Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CHSY1 22856 broad.mit.edu 37 15 101718818 101718818 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:101718818C>T ENST00000254190.3 - 3 1659 c.1184G>A c.(1183-1185)aGa>aAa p.R395K CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 395 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCCATTCCTCTTCGAGGGGG 0.542000 35 73 0 0 0.004289 0 0 MAN2A2 4122 broad.mit.edu 37 15 91456191 91456191 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:91456191C>A ENST00000360468.3 + 16 2572 c.2554C>A c.(2554-2556)Cac>Aac p.H852N MAN2A2_ENST00000430376.2_Missense_Mutation_p.H42N|MAN2A2_ENST00000431652.2_Missense_Mutation_p.H360N|MAN2A2_ENST00000559717.1_Missense_Mutation_p.H852N NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 852 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGAGCACATTCACCAGGCGGT 0.567000 23 65 1.10923e-09 1.51888e-09 0.002780 1 0 SOS1 6654 broad.mit.edu 37 2 39249913 39249913 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39249913C>G ENST00000426016.1 - 11 1742 c.1656G>C c.(1654-1656)agG>agC p.R552S SOS1_ENST00000402219.2_Missense_Mutation_p.R552S|SOS1_ENST00000395038.2_Missense_Mutation_p.R552S Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 552 R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation).|R -> K (in NS4).|R -> S (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CATCAAGCATCCTTTCCAGTG 0.403000 Noonan syndrome 29 83 0 0 0.008361 0 0 GXYLT2 727936 broad.mit.edu 37 3 73016856 73016856 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:73016856G>A ENST00000389617.4 + 6 1296 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 379 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 AGCACTCTATGAAGCAATACG 0.493000 9 38 0 0 0.008291 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724723 140724723 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140724723G>C ENST00000253812.6 + 1 1123 c.1123G>C c.(1123-1125)Gat>Cat p.D375H PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGACCGAGATTCTGGGCA 0.448000 23 99 0 0 0.003330 0 0 GCK 2645 broad.mit.edu 37 7 44192943 44192943 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44192943C>T ENST00000403799.3 - 2 634 c.165G>A c.(163-165)gtG>gtA p.V55V GCK_ENST00000345378.2_Silent_p.V56V|GCK_ENST00000437084.1_Silent_p.V55V|GCK_ENST00000395796.3_Silent_p.V54V NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 55 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GCAGCATCTTCACACTGGCCT 0.602000 65 131 0 0 0.003610 0 0 TRANK1 9881 broad.mit.edu 37 3 36899292 36899292 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:36899292G>A ENST00000429976.2 - 12 2036 c.1789C>T c.(1789-1791)Ctg>Ttg p.L597L TRANK1_ENST00000428977.2_Silent_p.L47L|TRANK1_ENST00000301807.6_Silent_p.L47L NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 597 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCCAAGAGCAGAGAGTCGTTC 0.532000 34 213 0 0 0.002836 0 0 TGFBR3 7049 broad.mit.edu 37 1 92184913 92184913 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:92184913G>A ENST00000212355.4 - 10 1987 c.1522C>T c.(1522-1524)Cgg>Tgg p.R508W TGFBR3_ENST00000525962.1_Missense_Mutation_p.R508W|TGFBR3_ENST00000370399.2_Missense_Mutation_p.R507W NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 508 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CACCGGGGCCGAGTACCGCAG 0.547000 35 62 0 0 0.002836 0 0 FAM83B 222584 broad.mit.edu 37 6 54805774 54805774 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:54805774G>C ENST00000306858.7 + 5 2121 c.2005G>C c.(2005-2007)Gac>Cac p.D669H NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 669 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CCCGTTATTTGACAACTCAAA 0.343000 17 65 0 0 0.007413 0 0 MKRN3 7681 broad.mit.edu 37 15 23811021 23811021 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:23811021A>G ENST00000314520.3 + 1 568 c.92A>G c.(91-93)gAc>gGc p.D31G MKRN3_ENST00000568252.1_Missense_Mutation_p.D31G|MKRN3_ENST00000564592.1_Missense_Mutation_p.D31G NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 31 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCTGGGCCGGACCTTCCCGTC 0.667000 3 40 0 0 0.004672 0 0 PBRM1 55193 broad.mit.edu 37 3 52696218 52696218 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:52696218C>T ENST00000356770.4 - 4 461 c.459G>A c.(457-459)caG>caA p.Q153Q PBRM1_ENST00000409114.3_Silent_p.Q153Q|PBRM1_ENST00000409057.1_Silent_p.Q153Q|PBRM1_ENST00000296302.7_Silent_p.Q153Q|PBRM1_ENST00000409767.1_Silent_p.Q153Q|PBRM1_ENST00000410007.1_Silent_p.Q153Q|PBRM1_ENST00000337303.4_Silent_p.Q153Q|PBRM1_ENST00000394830.3_Silent_p.Q153Q Q86U86 PB1_HUMAN polybromo 1 153 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CTTCTCCTTTCTGAACAAACT 0.418000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 32 217 0 0 0.001786 0 0 CYB5D1 124637 broad.mit.edu 37 17 7761959 7761959 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:7761959G>A ENST00000332439.4 + 3 425 c.273G>A c.(271-273)ctG>ctA p.L91L CYB5D1_ENST00000571846.1_Silent_p.L91L|CYB5D1_ENST00000570446.1_Intron|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'UTR NM_144607.4 NP_653208.2 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 91 Cytochrome b5 heme-binding. heme binding breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) CCGGCTGCCTGAGGTACTGCA 0.627000 OREG0024147 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 77 0 0 0.003610 0 0 MIER1 57708 broad.mit.edu 37 1 67436578 67436578 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:67436578G>A ENST00000357692.2 + 10 1009 c.752G>A c.(751-753)aGa>aAa p.R251K MIER1_ENST00000371014.1_Missense_Mutation_p.R287K|MIER1_ENST00000371018.3_Missense_Mutation_p.R251K|MIER1_ENST00000401041.1_Missense_Mutation_p.R287K|MIER1_ENST00000371016.1_Missense_Mutation_p.R251K|MIER1_ENST00000401042.3_Missense_Mutation_p.R234K|MIER1_ENST00000355356.3_Missense_Mutation_p.R234K|MIER1_ENST00000355977.6_Missense_Mutation_p.R171K NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 258 ELM2.|Interaction with HDAC1. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 GCATCTAGAAGAACAGGTGAT 0.358000 16 61 0 0 0.003163 0 0 DSP 1832 broad.mit.edu 37 6 7583844 7583844 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:7583844G>C ENST00000379802.3 + 24 6690 c.6349G>C c.(6349-6351)Gat>Cat p.D2117H DSP_ENST00000418664.2_Missense_Mutation_p.D1518H NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2117 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.D2117Y(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAATTTGATTGATAGAGAAAC 0.443000 27 109 0 0 0.006320 0 0 FTH1 2495 broad.mit.edu 37 11 61732243 61732243 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:61732243G>C ENST00000273550.7 - 4 742 c.508C>G c.(508-510)Ctc>Gtc p.L170V FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.L100V|FTH1_ENST00000526640.1_Missense_Mutation_p.L140V|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 170 cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TTGTCAAAGAGATATTCCGCC 0.522000 24 70 0 0 0.003954 0 0 MYH3 4621 broad.mit.edu 37 17 10543550 10543550 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:10543550G>C ENST00000583535.1 - 22 2532 c.2445C>G c.(2443-2445)atC>atG p.I815M MYH3_ENST00000226209.7_Missense_Mutation_p.I815M NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 815 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGTTGTACTGGATGCAGAAGA 0.478000 18 42 0 0 0.006122 0 0 SCG5 6447 broad.mit.edu 37 15 32988730 32988730 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:32988730C>G ENST00000300175.4 + 6 669 c.559C>G c.(559-561)Cta>Gta p.L187V SCG5_ENST00000413748.2_Missense_Mutation_p.L186V|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000497208.1_Missense_Mutation_p.L169V|SCG5_ENST00000494364.1_Missense_Mutation_p.L168V NM_001144757.1 NP_001138229.1 P05408 7B2_HUMAN secretogranin V (7B2 protein) 187 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule enzyme inhibitor activity|GTP binding|unfolded protein binding lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 6 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) CAATCCATATCTACAAGGACA 0.373000 13 26 0 0 0.002450 0 0 SMG6 23293 broad.mit.edu 37 17 2202598 2202598 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:2202598G>A ENST00000544865.1 - 2 1866 c.1356C>T c.(1354-1356)gtC>gtT p.V452V SMG6_ENST00000263073.6_Silent_p.V483V Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 483 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ATGTAGGGCTGACTTCATCAT 0.512000 102 157 0 0 0.003610 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879406 39879406 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:39879406G>A ENST00000530275.1 + 1 3256 c.3061G>A c.(3061-3063)Gcc>Acc p.A1021T MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1021 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGGAATCCGCCTCCGCAGC 0.682000 6 33 0 0 0.001168 0 0 CSPG4 1464 broad.mit.edu 37 15 75977247 75977247 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:75977247C>T ENST00000308508.5 - 5 4371 c.4279G>A c.(4279-4281)Gag>Aag p.E1427K NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1427 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ATCAGCTGCTCTTCCACCTAG 0.597000 18 62 0 0 0.008871 0 0 SVILP1 645954 broad.mit.edu 37 10 30987354 30987354 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:30987354C>T ENST00000435645.1 + 0 487 TAGAAACTAACTGCATTTACT 0.433000 15 38 0 0 0.002450 0 0 CGGBP1 8545 broad.mit.edu 37 3 88104904 88104904 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:88104904C>T ENST00000398392.2 - 1 1555 c.223G>A c.(223-225)Gaa>Aaa p.E75K CGGBP1_ENST00000462901.1_Missense_Mutation_p.E75K|CGGBP1_ENST00000309534.6_Missense_Mutation_p.E75K|CGGBP1_ENST00000482016.1_Missense_Mutation_p.E75K Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) TTCTGCTCTTCAAATTCTGCC 0.453000 15 112 0 0 0.003163 0 0 NMRK1 54981 broad.mit.edu 37 9 77683978 77683978 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:77683978C>G ENST00000376811.1 - 8 904 c.442G>C c.(442-444)Gat>Cat p.D148H NMRK1_ENST00000361092.4_Missense_Mutation_p.D144H|NMRK1_ENST00000376808.4_Missense_Mutation_p.D120H Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 144 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity ACATGGCCATCAAAGTATCCC 0.413000 15 70 0 0 0.003163 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467852 51467852 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51467852C>T ENST00000228515.1 - 3 462 c.165G>A c.(163-165)ctG>ctA p.L55L NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 55 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 TCTGCCGCTTCAGGATGGATG 0.493000 25 78 0 0 0.003330 0 0 COL4A3 1285 broad.mit.edu 37 2 228174028 228174028 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:228174028C>T ENST00000396578.3 + 50 4911 c.4749C>T c.(4747-4749)ttC>ttT p.F1583F AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1583 Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GATTTTCATTCATCATGGTGA 0.473000 5 22 0 0 0.001168 0 0 TXNIP 10628 broad.mit.edu 37 1 145440314 145440314 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:145440314G>T ENST00000369317.4 + 5 954 c.620G>T c.(619-621)cGa>cTa p.R207L TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 207 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACATGTTCCCGAATTGTGGTC 0.453000 40 84 1.43246e-33 2.03885e-33 0.007835 1 0 HADHB 3032 broad.mit.edu 37 2 26501592 26501592 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:26501592G>C ENST00000317799.5 + 8 657 c.553G>C c.(553-555)Gat>Cat p.D185H HADHB_ENST00000537713.1_Missense_Mutation_p.D170H|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.D163H NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 185 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGATGCTTGATCTCAATAA 0.453000 12 81 0 0 0.000978 0 0 ZNF845 91664 broad.mit.edu 37 19 53856074 53856074 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:53856074G>C ENST00000458035.1 + 4 2263 c.2146G>C c.(2146-2148)Gag>Cag p.E716Q ZNF845_ENST00000595091.1_Missense_Mutation_p.E716Q NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 716 Missing (in Ref. 1; BAG58121). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TCATACTGGAGAGAAACCTTA 0.418000 37 118 0 0 0.004289 0 0 BAZ2B 29994 broad.mit.edu 37 2 160182266 160182266 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:160182266C>A ENST00000392783.2 - 35 6602 c.6107G>T c.(6106-6108)aGa>aTa p.R2036I BAZ2B_ENST00000355831.2_Missense_Mutation_p.R2002I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1936I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R2000I NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 2036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CTCCATTTTTCTTTTCTTGAG 0.353000 39 84 2.40579e-17 3.37976e-17 0.006230 1 0 ABCF1 23 broad.mit.edu 37 6 30552094 30552094 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:30552094G>A ENST00000326195.8 + 13 1340 c.1228G>A c.(1228-1230)Gag>Aag p.E410K ABCF1_ENST00000376545.3_Missense_Mutation_p.E372K|ABCF1_ENST00000396515.4_Intron NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 410 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CACAGCTGCTGAGAGGCTAGA 0.597000 19 65 0 0 0.001523 0 0 MTMR3 8897 broad.mit.edu 37 22 30394779 30394779 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:30394779G>C ENST00000333027.3 + 8 818 c.490G>C c.(490-492)Gag>Cag p.E164Q MTMR3_ENST00000406629.1_Missense_Mutation_p.E164Q|MTMR3_ENST00000323630.5_Missense_Mutation_p.E28Q|MTMR3_ENST00000401950.2_Missense_Mutation_p.E164Q|MTMR3_ENST00000351488.3_Missense_Mutation_p.E164Q NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 164 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GTTTAAAAACGAGGTGGAGAG 0.408000 6 21 0 0 0.001168 0 0 ANXA9 8416 broad.mit.edu 37 1 150960575 150960575 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:150960575C>T ENST00000368947.4 + 11 1182 c.706C>T c.(706-708)Cag>Tag p.Q236* NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 236 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTGTTTGATCAGTACCAGCG 0.557000 20 48 0 0 0.003330 0 0 TRPM4 54795 broad.mit.edu 37 19 49661463 49661463 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49661463G>T ENST00000252826.5 + 2 165 c.39G>T c.(37-39)aaG>aaT p.K13N TRPM4_ENST00000427978.2_Missense_Mutation_p.K13N|TRPM4_ENST00000355712.5_5'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 13 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGATCCCCAAGATCTTCAAGA 0.602000 73 333 3.19358e-47 4.56145e-47 0.003610 1 0 DNAH7 56171 broad.mit.edu 37 2 196718190 196718190 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:196718190C>T ENST00000312428.6 - 46 8758 c.8658G>A c.(8656-8658)gaG>gaA p.E2886E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2886 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGAGTTTTCTCACCTCCAA 0.463000 9 54 0 0 0.004482 0 0 TTC30B 150737 broad.mit.edu 37 2 178417039 178417039 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:178417039C>G ENST00000408939.3 - 1 703 c.453G>C c.(451-453)gaG>gaC p.E151D NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CGGTCTCATTCTCGCCCCCAC 0.582000 51 327 0 0 0.003610 0 0 RHPN2 85415 broad.mit.edu 37 19 33490610 33490610 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:33490610C>T ENST00000254260.3 - 10 1142 c.1107G>A c.(1105-1107)gtG>gtA p.V369V RHPN2_ENST00000400226.4_Splice_Site_p.V218V NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 369 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TGCCTGGCTTCACTGCAAAGA 0.542000 27 64 0 0 0.002096 0 0 AP2B1 163 broad.mit.edu 37 17 34036247 34036247 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:34036247C>T ENST00000262325.7 + 18 2970 c.2417C>T c.(2416-2418)gCt>gTt p.A806V AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.A782V|AP2B1_ENST00000312678.8_Missense_Mutation_p.A820V|AP2B1_ENST00000537622.2_Missense_Mutation_p.A820V|AP2B1_ENST00000538556.1_Missense_Mutation_p.A749V|AP2B1_ENST00000589344.1_Missense_Mutation_p.A820V NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 806 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TGGCAGGTGGCTGTGAAAAAC 0.473000 12 67 0 0 0.000978 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16532692 16532692 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:16532692G>C ENST00000270747.3 - 7 1417 c.1281C>G c.(1279-1281)gtC>gtG p.V427V ARHGEF19_ENST00000478117.1_5'UTR NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 427 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGCTCTTGACCTCGGGCA 0.647000 5 14 0 0 0.001984 0 0 GPR63 81491 broad.mit.edu 37 6 97247300 97247300 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:97247300C>A ENST00000229955.3 - 2 653 c.308G>T c.(307-309)tGc>tTc p.C103F GPR63_ENST00000417980.1_Missense_Mutation_p.C103F NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 103 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AACCATGAGGCAAACAACCAA 0.443000 16 44 3.45872e-05 4.61162e-05 0.004007 1 0 NSFL1C 55968 broad.mit.edu 37 20 1447415 1447415 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:1447415C>A ENST00000216879.4 - 1 922 c.55G>T c.(55-57)Gag>Tag p.E19* NSFL1C_ENST00000350991.4_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000381658.4_5'UTR|NSFL1C_ENST00000476071.1_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000353088.2_Nonsense_Mutation_p.E19* NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 19 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 CGGTCCTCCTCGGCGCCCGTC 0.746000 3 8 0.00024832 0.000328665 0.000248 1 0 SPHKAP 80309 broad.mit.edu 37 2 228883230 228883230 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:228883230C>T ENST00000392056.3 - 7 2386 c.2340G>A c.(2338-2340)acG>acA p.T780T SPHKAP_ENST00000344657.5_Silent_p.T780T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 780 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGACAAGACTCGTGTTGTGTG 0.502000 46 124 0 0 0.003610 0 0 BOLA3 388962 broad.mit.edu 37 2 74372361 74372361 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:74372361C>G ENST00000327428.5 - 2 243 c.124G>C c.(124-126)Gaa>Caa p.E42Q BOLA3_ENST00000295326.4_Missense_Mutation_p.E42Q NM_212552.2 NP_997717.2 Q53S33 BOLA3_HUMAN bolA family member 3 42 extracellular region large_intestine(1)|lung(1) 2 GGAAACTTTTCTTTGAGAATT 0.478000 10 74 0 0 0.006214 0 0 P2RY13 53829 broad.mit.edu 37 3 151046539 151046539 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:151046539G>C ENST00000325602.5 - 2 324 c.305C>G c.(304-306)tCt>tGt p.S102C MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 102 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) GTGTGAGTCAGAGAGGATTTT 0.468000 21 36 0 0 0.001882 0 0 CYP2A7 1549 broad.mit.edu 37 19 41384835 41384835 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:41384835C>G ENST00000301146.4 - 5 1202 c.661G>C c.(661-663)Gag>Cag p.E221Q CYP2A7_ENST00000291764.3_Missense_Mutation_p.E170Q|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 221 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GAGAACATCTCATAGAGCTGG 0.527000 15 46 0 0 0.006122 0 0 CELSR3 1951 broad.mit.edu 37 3 48697852 48697852 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48697852G>A ENST00000544264.1 - 1 2496 c.2216C>T c.(2215-2217)tCa>tTa p.S739L CELSR3_ENST00000164024.4_Missense_Mutation_p.S739L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 739 Cadherin 4. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GACACTGGCTGAGGCAGAGAG 0.567000 34 53 0 0 0.007835 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40820225 40820225 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:40820225C>A ENST00000293349.6 - 13 2723 c.2293G>T c.(2293-2295)Gac>Tac p.D765Y PLEKHH3_ENST00000412503.1_Missense_Mutation_p.D591Y|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.D768Y Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 768 signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GGGGAGGTGTCTGGCAGGTCT 0.647000 22 41 1.10923e-09 1.51888e-09 0.002780 1 0 NEDD9 4739 broad.mit.edu 37 6 11190647 11190647 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:11190647C>T ENST00000379446.5 - 5 1621 c.1455G>A c.(1453-1455)atG>atA p.M485I RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.M485I NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 485 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GCTCCCGCTTCATCTTGTTGT 0.522000 12 38 0 0 0.001368 0 0 CACNA1D 776 broad.mit.edu 37 3 53783406 53783406 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:53783406C>T ENST00000288139.4 + 28 3604 c.3486C>T c.(3484-3486)ttC>ttT p.F1162F CACNA1D_ENST00000422281.2_Silent_p.F1142F|CACNA1D_ENST00000540742.1_Silent_p.F49F|CACNA1D_ENST00000350061.5_Silent_p.F1142F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TAGCTTTCTTCATGATGAACA 0.418000 33 44 0 0 0.002096 0 0 GBX1 2636 broad.mit.edu 37 7 150864185 150864185 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:150864185C>T ENST00000297537.4 - 1 450 c.451G>A c.(451-453)Gat>Aat p.D151N GBX1_ENST00000475831.1_5'UTR NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 151 Pro-rich. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCTCATCAGCTTCCAGC 0.711000 26 75 0 0 0.006320 0 0 ZNF16 7564 broad.mit.edu 37 8 146156262 146156262 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:146156262G>A ENST00000276816.4 - 4 2097 c.1911C>T c.(1909-1911)gcC>gcT p.A637A ZNF16_ENST00000394909.2_Silent_p.A637A NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GCTGACTGAAGGCTTTCCCAC 0.542000 28 77 0 0 0.005443 0 0 NR6A1 2649 broad.mit.edu 37 9 127289100 127289100 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:127289100C>A ENST00000487099.2 - 8 1316 c.1159G>T c.(1159-1161)Gag>Tag p.E387* NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E386*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E382*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E383* NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 387 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GCATACTCCTCGTTGCTGACC 0.498000 38 93 1.07637e-12 1.49403e-12 0.004878 1 0 HELZ2 85441 broad.mit.edu 37 20 62198716 62198716 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62198716G>C ENST00000467148.1 - 6 2064 c.1995C>G c.(1993-1995)ctC>ctG p.L665L HELZ2_ENST00000427522.2_Silent_p.L96L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCTCATCGATGAGAATGTGGG 0.706000 3 7 0 0 0.004672 0 0 PIGK 10026 broad.mit.edu 37 1 77627290 77627290 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:77627290C>G ENST00000370812.3 - 7 714 c.691G>C c.(691-693)Gat>Cat p.D231H PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.D155H|PIGK_ENST00000445065.1_Missense_Mutation_p.D137H|PIGK_ENST00000359130.1_Missense_Mutation_p.D231H NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 231 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 GAGAGTGAATCTTCTCCCACT 0.368000 14 65 0 0 0.002450 0 0 SCN1B 6324 broad.mit.edu 37 19 35523533 35523533 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:35523533G>C ENST00000262631.5 + 2 279 c.142G>C c.(142-144)Gag>Cag p.E48Q SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.E48Q|SCN1B_ENST00000415950.3_Missense_Mutation_p.E48Q NM_001037.4 NP_001028.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 48 Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCGCCGCAGCGAGACCAACGC 0.627000 43 190 0 0 0.003610 0 0 CARF 79800 broad.mit.edu 37 2 203839184 203839184 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:203839184G>A ENST00000402905.3 + 12 1780 c.1459G>A c.(1459-1461)Gat>Aat p.D487N CARF_ENST00000320443.8_Missense_Mutation_p.D487N|CARF_ENST00000414439.1_Missense_Mutation_p.D385N|CARF_ENST00000545262.1_Missense_Mutation_p.D411N|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.D411N|CARF_ENST00000438828.2_Missense_Mutation_p.D487N|CARF_ENST00000545253.1_Missense_Mutation_p.D399N NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor GAGAAATGGAGATACGGTATA 0.323000 15 37 0 0 0.004007 0 0 NIPBL 25836 broad.mit.edu 37 5 37019411 37019411 + Splice_Site SNP A A T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:37019411A>T ENST00000282516.8 + 25 5419 c.e25-1 NIPBL_ENST00000448238.2_Splice_Site NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTATTCTATAGGTTTCAGGA 0.318000 19 64 0 0 0.008871 0 0 RREB1 6239 broad.mit.edu 37 6 7229506 7229506 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:7229506C>T ENST00000379938.2 + 10 1711 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q392*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q392* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 392 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCAGGCAATTCAGCTCCAGAC 0.622000 8 38 0 0 0.003080 0 0 TAF12 6883 broad.mit.edu 37 1 28931934 28931934 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:28931934C>T ENST00000263974.4 - 5 834 c.400G>A c.(400-402)Gaa>Aaa p.E134K TAF12_ENST00000373824.4_Missense_Mutation_p.E134K|TAF12_ENST00000471683.1_5'UTR NM_001135218.1 NP_001128690.1 Q16514 TAF12_HUMAN TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa 134 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|transcription coactivator activity ovary(1)|upper_aerodigestive_tract(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123) Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CGGATTTCTTCAGAGCCAAAT 0.517000 35 88 0 0 0.003271 0 0 KRT6B 3854 broad.mit.edu 37 12 52843380 52843380 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:52843380G>T ENST00000252252.3 - 5 997 c.950C>A c.(949-951)tCc>tAc p.S317Y NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 317 Linker 12.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TAGCACCACGGATGTGTCTGA 0.527000 20 236 2.75727e-19 3.88362e-19 0.004878 1 0 TPR 7175 broad.mit.edu 37 1 186322927 186322927 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:186322927G>A ENST00000367478.4 - 18 2523 c.2227C>T c.(2227-2229)Cat>Tat p.H743Y TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTCTCTCATGAAGTGATGTT 0.353000 T NTRK1 papillary thyroid 13 98 0 0 0.001368 0 0 HELZ2 85441 broad.mit.edu 37 20 62198913 62198913 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62198913G>C ENST00000467148.1 - 6 1867 c.1798C>G c.(1798-1800)Cct>Gct p.P600A HELZ2_ENST00000427522.2_Missense_Mutation_p.P31A NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator ACACGGAGAGGAGTGGCCTCG 0.667000 4 8 0 0 0.000602 0 0 DUPD1 338599 broad.mit.edu 37 10 76803619 76803619 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:76803619G>C ENST00000338487.5 - 2 356 c.357C>G c.(355-357)ttC>ttG p.F119L NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 119 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.F119F(1) breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CACTGAGGTCGAAGGTGGGCA 0.677000 18 68 0 0 0.007413 0 0 POM121L12 285877 broad.mit.edu 37 7 53104099 53104099 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:53104099C>T ENST00000408890.4 + 1 751 c.735C>T c.(733-735)ctC>ctT p.L245L NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 245 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGGAGCCTCAGTTTTTGTG 0.647000 17 66 0 0 0.004007 0 0 RYR2 6262 broad.mit.edu 37 1 237819236 237819236 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:237819236C>T ENST00000366574.2 + 53 8398 c.8081C>T c.(8080-8082)tCa>tTa p.S2694L RYR2_ENST00000360064.6_Missense_Mutation_p.S2692L|RYR2_ENST00000542537.1_Missense_Mutation_p.S2678L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2694 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAACAGTCATCAATGGATTCT 0.413000 10 23 0 0 0.008291 0 0 CREBBP 1387 broad.mit.edu 37 16 3777746 3777746 + Silent SNP C C T rs144609433 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:3777746C>T ENST00000262367.5 - 31 8111 c.7302G>A c.(7300-7302)acG>acA p.T2434T CREBBP_ENST00000382070.3_Silent_p.T2396T NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2434 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACTTCTCTAGCGTGTCCCCCG 0.552000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 66 131 0 0 0.003610 0 0 PGM2 55276 broad.mit.edu 37 4 37839181 37839181 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:37839181C>T ENST00000381967.4 + 4 487 c.387C>T c.(385-387)atC>atT p.I129I PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 129 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 CCACATTTATCAGTCAGGGGA 0.458000 49 128 0 0 0.003610 0 0 PSMG2 56984 broad.mit.edu 37 18 12706694 12706694 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:12706694C>G ENST00000317615.6 + 2 885 c.203C>G c.(202-204)tCa>tGa p.S68* PSMG2_ENST00000590217.1_Nonsense_Mutation_p.S68*|PSMG2_ENST00000585331.2_Nonsense_Mutation_p.S37* NM_020232.4 NP_064617.2 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly chaperone 2 68 proteasome assembly nucleus protein binding lung(1)|prostate(2)|skin(1) 4 GAAGGAAATTCAACAGAACTT 0.323000 22 56 0 0 0.002299 0 0 ZNF99 7652 broad.mit.edu 37 19 22940381 22940381 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:22940381C>T ENST00000397104.3 - 5 2056 c.2057G>A c.(2056-2058)aGa>aAa p.R686K ZNF99_ENST00000596209.1_Missense_Mutation_p.R777K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTATGTTTTCTAAGGGCTGA 0.348000 11 77 0 0 0.008291 0 0 TYW1B 441250 broad.mit.edu 37 7 72081725 72081725 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:72081725G>C ENST00000343721.5 - 0 900 TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TCGGGGATCAGATCCACCAGC 0.473000 24 86 0 0 0.002780 0 0 CTF1 1489 broad.mit.edu 37 16 30910763 30910763 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:30910763C>T ENST00000279804.2 + 2 90 c.53C>T c.(52-54)tCa>tTa p.S18L CTF1_ENST00000395019.3_Missense_Mutation_p.S17L NM_001142544.1|NM_001330.3 NP_001136016.1|NP_001321.1 Q16619 CTF1_HUMAN cardiotrophin 1 18 cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation extracellular space cytokine activity|leukemia inhibitory factor receptor binding large_intestine(1)|urinary_tract(1) 2 Colorectal(24;0.198) TCCTCAGTCTCACTTCTTCCC 0.567000 25 88 0 0 0.002096 0 0 FAM98B 283742 broad.mit.edu 37 15 38766480 38766480 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:38766480G>C ENST00000397609.2 + 6 745 c.710G>C c.(709-711)gGa>gCa p.G237A FAM98B_ENST00000491535.1_Missense_Mutation_p.G237A NM_173611.2 NP_775882.2 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 237 tRNA-splicing ligase complex protein binding endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) CAGTCCTTTGGATGGTCTGAT 0.428000 18 188 0 0 0.007413 0 0 KIAA0513 9764 broad.mit.edu 37 16 85120761 85120761 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:85120761A>G ENST00000566428.1 + 12 1806 c.1175A>G c.(1174-1176)aAc>aGc p.N392S KIAA0513_ENST00000538274.1_Missense_Mutation_p.N382S|KIAA0513_ENST00000258180.3_Missense_Mutation_p.N392S O60268 K0513_HUMAN KIAA0513 392 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) GTGATTGGCAACCTGGATGAA 0.602000 OREG0023994 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 51 0 0 0.002450 0 0 ZNF441 126068 broad.mit.edu 37 19 11892189 11892189 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11892189C>T ENST00000357901.4 + 4 1652 c.1550C>T c.(1549-1551)tCa>tTa p.S517L ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S517L(1)|p.S450L(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTCCCAGTTCATTTCGAAGA 0.398000 32 61 0 0 0.001786 0 0 FBXO43 286151 broad.mit.edu 37 8 101153700 101153700 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:101153700G>C ENST00000428847.2 - 2 1098 c.782C>G c.(781-783)tCt>tGt p.S261C NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 261 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) ATGTGTGATAGAGTCTTTAAA 0.378000 23 46 0 0 0.002299 0 0 WDR59 79726 broad.mit.edu 37 16 74920244 74920244 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:74920244C>A ENST00000262144.6 - 24 2600 c.2470G>T c.(2470-2472)Gaa>Taa p.E824* NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 824 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CGGAGCTCTTCTGGTGAGGAT 0.527000 35 86 6.53348e-20 9.21839e-20 0.003755 1 0 DGKZ 8525 broad.mit.edu 37 11 46387826 46387826 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:46387826G>A ENST00000454345.1 + 2 145 c.20G>A c.(19-21)aGa>aAa p.R7K DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 7 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TTCTTTAGGAGACATTTCCGG 0.682000 7 19 0 0 0.001984 0 0 CIR1 9541 broad.mit.edu 37 2 175213338 175213338 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:175213338C>T ENST00000342016.3 - 10 1332 c.1240G>A c.(1240-1242)Gag>Aag p.E414K CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 414 Arg/Ser-rich (RS domain). mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 CTGCTTTGCTCTTCACCAGGA 0.507000 43 251 0 0 0.007835 0 0 TMEM131 23505 broad.mit.edu 37 2 98377308 98377308 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:98377308C>G ENST00000186436.5 - 37 5187 c.4959G>C c.(4957-4959)aaG>aaC p.K1653N NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1653 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GGTTGCCGTTCTTGCCCGGGA 0.537000 15 69 0 0 0.003163 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380455 28380455 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:28380455G>A ENST00000394835.3 + 10 1675 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K EFCAB5_ENST00000378738.3_Missense_Mutation_p.E495K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E152K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E495K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E439K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E495K NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 495 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TAAACTTAACGAACAGAGAAC 0.388000 33 216 0 0 0.002836 0 0 MAP7 9053 broad.mit.edu 37 6 136681163 136681163 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:136681163C>G ENST00000354570.3 - 14 2220 c.1810G>C c.(1810-1812)Gag>Cag p.E604Q MAP7_ENST00000454590.1_Missense_Mutation_p.E626Q|MAP7_ENST00000432797.2_Missense_Mutation_p.E458Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E589Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E589Q NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 604 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) ATAATCTCCTCAAGTCGCTAT 0.343000 18 51 0 0 0.006122 0 0 FLNA 2316 broad.mit.edu 37 X 153599343 153599343 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:153599343G>C ENST00000422373.1 - 2 519 c.271C>G c.(271-273)Cgc>Ggc p.R91G FLNA_ENST00000360319.4_Missense_Mutation_p.R91G|FLNA_ENST00000344736.4_Missense_Mutation_p.R91G|FLNA_ENST00000369850.3_Missense_Mutation_p.R91G NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 91 Actin-binding.|CH 1. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTGTGCTTGCGGTGCATCTTC 0.607000 14 9 0 0 0.003163 0 0 C15orf53 400359 broad.mit.edu 37 15 38990393 38990393 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:38990393G>A ENST00000318792.1 + 2 197 c.187G>A c.(187-189)Gag>Aag p.E63K NM_207444.2 NP_997327.1 Q8NAA6 CO053_HUMAN chromosome 15 open reading frame 53 63 endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) ccaccaacaagagctcaggga 0.463000 19 42 0 0 0.007413 0 0 ABCA7 10347 broad.mit.edu 37 19 1043124 1043124 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:1043124G>A ENST00000263094.6 + 8 895 c.664G>A c.(664-666)Gag>Aag p.E222K ABCA7_ENST00000433129.1_Missense_Mutation_p.E222K|ABCA7_ENST00000435683.2_Missense_Mutation_p.E84K NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 222 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGCTGTCAGAGGCCCTCTG 0.657000 15 68 0 0 0.003163 0 0 HLA-F 3134 broad.mit.edu 37 6 29694183 29694183 + Nonstop_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:29694183G>T ENST00000376861.1 + 8 1424 c.1040G>T c.(1039-1041)tGa>tTa p.*347L HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Intron|HLA-F_ENST00000334668.4_Nonstop_Mutation_p.*347L|HLA-F_ENST00000434407.2_Nonstop_Mutation_p.*255L|HLA-F_ENST00000440587.2_Intron P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TCTATAGTGTGAGACAGCTTC 0.358000 9 47 9.70103e-10 1.33287e-09 0.008291 1 0 SRCIN1 80725 broad.mit.edu 37 17 36715882 36715882 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:36715882C>T ENST00000264659.7 - 10 2188 c.1964G>A c.(1963-1965)cGa>cAa p.R655Q SRCIN1_ENST00000578925.1_Missense_Mutation_p.R689Q|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 527 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CTGCAGGCCTCGCAGGTGAAG 0.736000 8 25 0 0 0.004482 0 0 CBWD2 150472 broad.mit.edu 37 2 114220043 114220043 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:114220043G>A ENST00000433343.2 + 9 838 c.526G>A c.(526-528)Gat>Aat p.D176N CBWD2_ENST00000259199.4_Missense_Mutation_p.D212N|CBWD2_ENST00000416503.2_Missense_Mutation_p.D212N Q8IUF1 CBWD2_HUMAN COBW domain containing 2 212 ATP binding|protein binding endometrium(1)|lung(1) 2 TCCAGAAGAAGATGTAAAGAA 0.323000 40 95 0 0 0.002852 0 0 GSPT1 2935 broad.mit.edu 37 16 11980398 11980398 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:11980398G>A ENST00000434724.2 - 9 1382 c.1183C>T c.(1183-1185)Cac>Tac p.H395Y GSPT1_ENST00000439887.2_Missense_Mutation_p.H394Y|GSPT1_ENST00000564790.1_5'UTR|GSPT1_ENST00000420576.2_Missense_Mutation_p.H257Y|GSPT1_ENST00000563468.1_Missense_Mutation_p.H257Y|RP11-166B2.8_ENST00000574364.1_RNA NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085 P15170 ERF3A_HUMAN G1 to S phase transition 1 257 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 GGCATAAAGTGAATGTCCTTT 0.348000 24 64 0 0 0.002299 0 0 RNF25 64320 broad.mit.edu 37 2 219532976 219532976 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219532976G>A ENST00000295704.2 - 3 645 c.205C>T c.(205-207)Cag>Tag p.Q69* NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 69 RWD. positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGGGACCTGAAGCACCAGA 0.547000 26 56 0 0 0.003330 0 0 MLKL 197259 broad.mit.edu 37 16 74706420 74706420 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:74706420G>C ENST00000308807.7 - 11 1861 c.1398C>G c.(1396-1398)ctC>ctG p.L466L MLKL_ENST00000306247.7_Silent_p.L258L NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 466 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 AAAAGGTGGAGAGTTTCTTTA 0.408000 53 160 0 0 0.003610 0 0 INTS5 80789 broad.mit.edu 37 11 62415293 62415293 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62415293G>A ENST00000330574.2 - 2 2311 c.2259C>T c.(2257-2259)gtC>gtT p.V753V NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 753 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CACGGCCGATGACTCCAGCAT 0.547000 17 62 0 0 0.006122 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652699 121652699 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:121652699C>T ENST00000393386.2 + 12 4010 c.3599C>T c.(3598-3600)cCa>cTa p.P1200L PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1200 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACTGTTCTTCCAGCTGTGCCC 0.378000 50 161 0 0 0.003610 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616515 140616515 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140616515C>G ENST00000526308.1 + 0 2578 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 AATTAGGGATCTGATTATGAT 0.408000 4 16 0 0 0.000248 0 0 SRSF2 6427 broad.mit.edu 37 17 74732523 74732523 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74732523C>A ENST00000392485.2 - 2 558 c.386G>T c.(385-387)cGa>cTa p.R129L SRSF2_ENST00000359995.5_Missense_Mutation_p.R129L|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117L|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 129 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 ACTCCGGGATCGGCTGCGGCG 0.711000 Mis """MDS, CLL""" 13 66 1.49906e-05 2.00368e-05 0.002450 1 0 SRP68 6730 broad.mit.edu 37 17 74056437 74056437 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74056437C>T ENST00000307877.2 - 7 950 c.789G>A c.(787-789)atG>atA p.M263I SRP68_ENST00000355113.5_Missense_Mutation_p.M162I|SRP68_ENST00000539137.1_Missense_Mutation_p.M225I NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 263 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 ACCTCAATCTCATCTGCATGA 0.428000 19 96 0 0 0.003954 0 0 EMR1 2015 broad.mit.edu 37 19 6928195 6928195 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:6928195C>T ENST00000312053.4 + 17 2299 c.2262C>T c.(2260-2262)ttC>ttT p.F754F EMR1_ENST00000250572.8_Silent_p.F689F|EMR1_ENST00000381407.5_Silent_p.F613F|EMR1_ENST00000381404.4_Silent_p.F702F|EMR1_ENST00000450315.3_Silent_p.F577F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 754 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCTGGAGTTTCTTGGGGCCAG 0.498000 45 116 0 0 0.003610 0 0 IKBKB 3551 broad.mit.edu 37 8 42179979 42179979 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:42179979G>A ENST00000520810.1 + 19 2139 c.1953G>A c.(1951-1953)caG>caA p.Q651Q IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.Q428Q|IKBKB_ENST00000520835.1_Silent_p.Q649Q|IKBKB_ENST00000416505.2_Silent_p.Q592Q NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 651 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGAAGCGGCAGAAGGAGCTCT 0.567000 18 121 0 0 0.006122 0 0 TAB2 23118 broad.mit.edu 37 6 149730837 149730837 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:149730837G>C ENST00000367456.1 + 8 2641 c.2064G>C c.(2062-2064)gaG>gaC p.E688D TAB2_ENST00000286332.5_Missense_Mutation_p.E688D|TAB2_ENST00000538427.1_Missense_Mutation_p.E688D|TAB2_ENST00000536230.1_Missense_Mutation_p.E656D Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 688 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 AACAGTGTGAGATGCCAAGGC 0.433000 36 100 0 0 0.005524 0 0 PCDH8 5100 broad.mit.edu 37 13 53421533 53421533 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:53421533C>T ENST00000377942.3 - 1 1242 c.1039G>A c.(1039-1041)Gtc>Atc p.V347I PCDH8_ENST00000338862.4_Missense_Mutation_p.V347I NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 347 Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTGTCATTGACGTCTCGGATG 0.726000 8 31 0 0 0.006214 0 0 AHI1 54806 broad.mit.edu 37 6 135679284 135679284 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:135679284C>G ENST00000367800.4 - 22 3367 c.3151G>C c.(3151-3153)Gat>Cat p.D1051H AHI1_ENST00000417892.2_Missense_Mutation_p.D405H|AHI1_ENST00000457866.2_Missense_Mutation_p.D1051H NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 1051 SH3. adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GGTGCTGTATCTACCTGATGG 0.353000 75 295 0 0 0.003610 0 0 OPTN 10133 broad.mit.edu 37 10 13154581 13154581 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:13154581C>G ENST00000378748.3 + 6 860 c.498C>G c.(496-498)ctC>ctG p.L166L OPTN_ENST00000378757.2_Silent_p.L166L|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000263036.5_Silent_p.L166L|OPTN_ENST00000378764.2_Silent_p.L166L|OPTN_ENST00000378752.3_Silent_p.L166L|OPTN_ENST00000378747.3_Silent_p.L166L NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin 166 Interaction with Rab8. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AACTGCAGCTCAAGCTGAACT 0.498000 28 88 0 0 0.002096 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C C T rs121913381 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:21971036C>T ENST00000579755.1 - 2 657 c.365G>A c.(364-366)cGa>cAa p.R122Q CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122Q|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57N P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 138 G -> R (in CMM2).|G -> S (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 17 0 0 0.000978 0 0 ZNF608 57507 broad.mit.edu 37 5 123983433 123983433 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:123983433C>T ENST00000306315.5 - 4 3079 c.2644G>A c.(2644-2646)Gag>Aag p.E882K ZNF608_ENST00000504926.1_Missense_Mutation_p.E455K NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 882 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTATCGGCCTCAGCTTTGATA 0.527000 14 87 0 0 0.002450 0 0 SERPINB8 5271 broad.mit.edu 37 18 61647057 61647057 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:61647057G>A ENST00000397985.2 + 3 447 c.191G>A c.(190-192)gGa>gAa p.G64E HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.G64E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.G64E NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 64 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TACAAAGACGGAGATATTCAC 0.433000 OREG0025042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 108 0 0 0.003755 0 0 NPAS1 4861 broad.mit.edu 37 19 47535976 47535976 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47535976C>T ENST00000602212.1 + 5 728 c.508C>T c.(508-510)Ctg>Ttg p.L170L NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L170L Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 170 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) CTCCATCTATCTGGGTCTCTC 0.552000 OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 75 0 0 0.001523 0 0 GFPT2 9945 broad.mit.edu 37 5 179745840 179745840 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:179745840G>C ENST00000253778.8 - 10 1080 c.911C>G c.(910-912)tCt>tGt p.S304C GFPT2_ENST00000520165.1_5'UTR NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 304 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GATGGCTCGAGATGGGTCATC 0.607000 14 37 0 0 0.002450 0 0 TRPA1 8989 broad.mit.edu 37 8 72975076 72975076 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:72975076G>C ENST00000262209.4 - 6 972 c.765C>G c.(763-765)atC>atG p.I255M NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 255 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GGCACATTTTGATCATTTCCA 0.388000 13 71 0 0 0.001855 0 0 SZT2 23334 broad.mit.edu 37 1 43896196 43896196 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43896196G>T ENST00000562955.1 + 31 4339 c.4339G>T c.(4339-4341)Gag>Tag p.E1447* SZT2_ENST00000372442.1_Nonsense_Mutation_p.E605* NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1504 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGTGGTCACTGAGAGTGACCC 0.562000 26 53 4.22769e-11 5.85318e-11 0.006320 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85466779 85466779 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:85466779C>T ENST00000393217.2 + 11 2851 c.2790C>T c.(2788-2790)gtC>gtT p.V930V NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 930 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TGGCACAAGTCTGGATTCCAA 0.403000 17 76 0 0 0.004990 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62494157 62494157 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62494157C>G ENST00000301785.5 - 1 664 c.472G>C c.(472-474)Gag>Cag p.E158Q HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E158Q NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 158 Glu-rich. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CTCCGCTCCTCGGGTTCGTCT 0.701000 13 26 0 0 0.001368 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48820513 48820513 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48820513G>T ENST00000265563.8 - 5 697 c.448C>A c.(448-450)Caa>Aaa p.Q150K PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q150K|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q150K NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 150 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) TCGAGAACTTGAGAAAGCTGT 0.383000 10 67 4.68919e-08 6.35133e-08 0.008291 1 0 MED29 55588 broad.mit.edu 37 19 39882056 39882056 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39882056G>C ENST00000315588.5 + 1 106 c.57G>C c.(55-57)gcG>gcC p.A19A MED29_ENST00000599213.2_5'UTR|MED29_ENST00000594368.1_5'UTR NM_017592.1 NP_060062.1 Q9NX70 MED29_HUMAN mediator complex subunit 29 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(1)|pancreas(1) 4 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGGTCTACGCGAGGAAGATGG 0.617000 9 33 0 0 0.004482 0 0 DIDO1 11083 broad.mit.edu 37 20 61526493 61526493 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:61526493C>G ENST00000266070.4 - 9 2564 c.2239G>C c.(2239-2241)Gag>Cag p.E747Q DIDO1_ENST00000395340.1_Missense_Mutation_p.E747Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.E747Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.E747Q NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 747 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAGATTTCCTCACGCAGAACA 0.413000 66 191 0 0 0.003610 0 0 BCAN 63827 broad.mit.edu 37 1 156617443 156617443 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:156617443G>C ENST00000329117.5 + 4 946 c.610G>C c.(610-612)Gat>Cat p.D204H RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D204H NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGAGCAATGTGATGCTGGCTG 0.647000 17 122 0 0 0.007413 0 0 SLC5A4 6527 broad.mit.edu 37 22 32627028 32627028 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:32627028C>G ENST00000266086.4 - 10 1067 c.1056G>C c.(1054-1056)gtG>gtC p.V352V RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 352 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CACAGTGTTTCACGCATTCAG 0.493000 13 46 0 0 0.004990 0 0 FREM1 158326 broad.mit.edu 37 9 14805073 14805073 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:14805073C>T ENST00000380881.4 - 20 4170 c.3355G>A c.(3355-3357)Gcc>Acc p.A1119T FREM1_ENST00000380880.3_Missense_Mutation_p.A1118T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1118T Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1118 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AACTGGTCGGCAGTTGGTTCT 0.438000 50 60 0 0 0.003610 0 0 IL17C 27189 broad.mit.edu 37 16 88706324 88706324 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:88706324C>G ENST00000244241.4 + 3 487 c.438C>G c.(436-438)ctC>ctG p.L146L NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 146 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) CAGCTGCGCTCAACTCCGTGC 0.687000 12 25 0 0 0.000978 0 0 TNRC6B 23112 broad.mit.edu 37 22 40661277 40661277 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:40661277C>G ENST00000454349.2 + 5 1254 c.1043C>G c.(1042-1044)tCa>tGa p.S348* TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.S348*|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 348 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GAACAGCAGTCAAAGATGGAA 0.428000 24 64 0 0 0.003954 0 0 PRKDC 5591 broad.mit.edu 37 8 48711931 48711931 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:48711931C>T ENST00000314191.2 - 73 10190 c.10134G>A c.(10132-10134)caG>caA p.Q3378Q PRKDC_ENST00000338368.3_Silent_p.Q3378Q|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3379 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGAATGCTCTCTGGTACAGAC 0.552000 Non-homologous end-joining 59 93 0 0 0.003610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293519 145293519 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:145293519C>G ENST00000342960.5 + 1 149 c.114C>G c.(112-114)ctC>ctG p.L38L NBPF10_ENST00000369339.3_Silent_p.L38L|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 38 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCAGAAACCTCAAAGAGAAAT 0.473000 74 874 0 0 0.003610 0 0 MYL6 4637 broad.mit.edu 37 12 56553863 56553863 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56553863C>T ENST00000551589.1 + 4 313 c.280C>T c.(280-282)Cgg>Tgg p.R94W MYL6_ENST00000547649.1_Missense_Mutation_p.R94W|MYL6_ENST00000293422.5_Missense_Mutation_p.R95W|MYL6_ENST00000550697.1_Missense_Mutation_p.R94W|MYL6_ENST00000348108.4_Missense_Mutation_p.R95W|MYL6_ENST00000547408.1_Missense_Mutation_p.R94W|MYL6_ENST00000548580.1_Missense_Mutation_p.R46W|MYL6_ENST00000536128.1_Missense_Mutation_p.R187W|MYL6_ENST00000548293.1_Missense_Mutation_p.R94W|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000549566.1_Missense_Mutation_p.R139W|MYL6_ENST00000548400.1_Missense_Mutation_p.R58W P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 94 EF-hand 2. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) CGAAGGACTTCGGGTGTTTGA 0.512000 27 63 0 0 0.005443 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378767 113378767 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:113378767G>C ENST00000316407.4 - 7 2172 c.1762C>G c.(1762-1764)Cag>Gag p.Q588E KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q588E|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 588 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AAAGGATTCTGATTAGCAGCC 0.478000 21 102 0 0 0.008871 0 0 BRD4 23476 broad.mit.edu 37 19 15349940 15349940 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:15349940C>T ENST00000263377.2 - 18 3933 c.3712G>A c.(3712-3714)Gag>Aag p.E1238K NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1238 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) AGGGCCTTCTCACGCTCCTCT 0.662000 T C15orf55 lethal midline carcinoma of young people 12 11 0 0 0.001368 0 0 AHNAK 79026 broad.mit.edu 37 11 62289440 62289440 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62289440G>A ENST00000378024.4 - 5 12723 c.12449C>T c.(12448-12450)tCt>tTt p.S4150F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4150 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTGGGCAGAGAAACGTCCAC 0.522000 45 132 0 0 0.008740 0 0 ATP8B1 5205 broad.mit.edu 37 18 55322535 55322535 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:55322535C>T ENST00000536015.1 - 23 2941 c.2822G>A c.(2821-2823)cGa>cAa p.R941Q RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R941Q|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 941 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GTAAGACCATCGGCCATGCAC 0.433000 30 96 0 0 0.007291 0 0 KIF4B 285643 broad.mit.edu 37 5 154393975 154393975 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:154393975G>T ENST00000435029.4 + 1 716 c.556G>T c.(556-558)Gat>Tat p.D186Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 186 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGTTGCCTTGGATACTGTTTC 0.468000 10 224 0.00621372 0.00815111 0.006214 1 0 TNRC6A 27327 broad.mit.edu 37 16 24802034 24802034 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:24802034C>T ENST00000395799.3 + 6 2200 c.2071C>T c.(2071-2073)Cag>Tag p.Q691* TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q691* NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 691 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGGGGAAAGTCAGAGTAGAGA 0.473000 23 55 0 0 0.002780 0 0 CLTC 1213 broad.mit.edu 37 17 57743597 57743597 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:57743597C>G ENST00000269122.3 + 11 2052 c.1778C>G c.(1777-1779)cCt>cGt p.P593R CLTC_ENST00000393043.1_Missense_Mutation_p.P593R|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 593 Distal segment.|Heavy chain arm. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ATGCATGCGCCTCAAGTATGT 0.433000 T """ALK, TFE3""" """ALCL, renal """ 10 100 0 0 0.000978 0 0 FBXL17 64839 broad.mit.edu 37 5 107521822 107521822 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:107521822C>T ENST00000542267.1 - 6 2147 c.1741G>A c.(1741-1743)Gac>Aac p.D581N FBXL17_ENST00000359660.5_Missense_Mutation_p.D183N|FBXL17_ENST00000496714.1_Missense_Mutation_p.D183N NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 581 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) GGTTACCTGTCATTTATGATC 0.313000 6 45 0 0 0.001984 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678510 48678510 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:48678510G>A ENST00000352832.5 + 18 4193 c.3821G>A c.(3820-3822)cGc>cAc p.R1274H CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1274H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1274H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1274H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1274H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1297H NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1297 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCCATGGAGCGCCCCAAAATT 0.592000 31 35 0 0 0.007291 0 0 LARP1 23367 broad.mit.edu 37 5 154173531 154173531 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:154173531G>T ENST00000336314.4 + 6 833 c.809G>T c.(808-810)gGc>gTc p.G270V NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 347 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTGGTCGCGGCCGGGGACGC 0.692000 6 80 3.59834e-05 4.78992e-05 0.001168 1 0 DSG2 1829 broad.mit.edu 37 18 29126602 29126602 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:29126602C>G ENST00000261590.8 + 15 3462 c.3253C>G c.(3253-3255)Ctg>Gtg p.L1085V RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 1085 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCCTGGCCCTCTGCCAGATTT 0.478000 24 85 0 0 0.003954 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50657502 50657502 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:50657502C>G ENST00000248846.5 - 20 4725 c.4621G>C c.(4621-4623)Gag>Cag p.E1541Q TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1541 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCACCTTCTCAAAGAGCAGG 0.657000 4 47 0 0 0.000602 0 0 RWDD1 51389 broad.mit.edu 37 6 116892761 116892761 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:116892761G>A ENST00000466444.2 + 1 232 c.16G>A c.(16-18)Gag>Aag p.E6K RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000517800.1_3'UTR|RWDD1_ENST00000392526.1_5'UTR NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 6 protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) AGATTACGGCGAGGAGCAGCG 0.677000 7 36 0 0 0.004482 0 0 LRFN1 57622 broad.mit.edu 37 19 39804803 39804803 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39804803G>C ENST00000248668.4 - 1 1173 c.1174C>G c.(1174-1176)Ctg>Gtg p.L392V NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 392 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTGCCATCAGAGGCAGAGGT 0.672000 7 41 0 0 0.001984 0 0 ZNF133 7692 broad.mit.edu 37 20 18286394 18286394 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:18286394C>T ENST00000377671.3 + 5 623 c.64C>T c.(64-66)Caa>Taa p.Q22* ZNF133_ENST00000535822.1_Intron|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.Q25*|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000316358.4_Nonsense_Mutation_p.Q22*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.Q22* NM_001083330.2|NM_003434.4 NP_001076799.1|NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 22 KRAB. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 GAGCCCTGCTCAAAGGACTCT 0.512000 30 69 0 0 0.002096 0 0 RGAG1 57529 broad.mit.edu 37 X 109695911 109695911 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:109695911C>G ENST00000465301.2 + 3 2312 c.2066C>G c.(2065-2067)tCt>tGt p.S689C RGAG1_ENST00000540313.1_Missense_Mutation_p.S689C NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 689 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GCCACAGTCTCTGGAGGGATG 0.512000 26 21 0 0 0.005443 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149006694 149006694 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:149006694C>G ENST00000333677.6 + 11 1683 c.1520C>G c.(1519-1521)cCt>cGt p.P507R NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 507 SH3 1. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 AGGTATGGCCCTGGGAAGCTG 0.577000 25 146 0 0 0.003954 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228108 140228108 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140228108G>C ENST00000378122.3 + 1 752 c.28G>C c.(28-30)Gag>Cag p.E10Q PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E10Q|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGATCCAGAGGGTCAGCC 0.493000 50 113 0 0 0.003610 0 0 SMC5 23137 broad.mit.edu 37 9 72962046 72962046 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:72962046G>C ENST00000361138.5 + 20 2691 c.2633G>C c.(2632-2634)aGa>aCa p.R878T SMC5_ENST00000471372.1_3'UTR NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 878 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 GAAAGATCAAGAGCTTCCTGC 0.418000 7 23 0 0 0.004482 0 0 MED13 9969 broad.mit.edu 37 17 60108955 60108955 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60108955G>A ENST00000397786.2 - 6 935 c.859C>T c.(859-861)Cag>Tag p.Q287* MED13_ENST00000580896.1_5'UTR NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 287 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATGTCTGACTGAGGGACTAGA 0.468000 11 51 0 0 0.000978 0 0 ZBTB45 84878 broad.mit.edu 37 19 59025544 59025544 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:59025544C>T ENST00000594051.1 - 3 1893 c.1413G>A c.(1411-1413)aaG>aaA p.K471K ZBTB45_ENST00000354590.3_Silent_p.K471K|ZBTB45_ENST00000600990.1_Silent_p.K471K Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) TGAGCGAGCTCTTCTGCGTGA 0.682000 6 30 0 0 0.001984 0 0 IGHV3-9 28451 broad.mit.edu 37 14 106552446 106552446 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:106552446C>G ENST00000390600.2 - 0 272 GAGACCCACTCCAGGCCCTTC 0.552000 37 129 0 0 0.003755 0 0 MUC5AC 4586 broad.mit.edu 37 11 1157932 1157932 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:1157932C>G ENST00000356191.2 + 13 990 c.990C>G c.(988-990)ttC>ttG p.F330L mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GCCCTGACTTCTGCCGTGAGT 0.687000 8 47 0 0 0.006214 0 0 CHST4 10164 broad.mit.edu 37 16 71571634 71571634 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:71571634G>A ENST00000338482.5 + 3 1397 c.1054G>A c.(1054-1056)Gat>Aat p.D352N ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.D352N|CHST4_ENST00000539698.3_Missense_Mutation_p.D352N Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 352 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity p.D352N(1) cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 AGCCTGTGGCGATGCCATGAA 0.512000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 77 0 0 0.002450 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31711763 31711763 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:31711763C>G ENST00000493662.2 + 6 554 c.498C>G c.(496-498)ctC>ctG p.L166L MSH5_ENST00000375703.3_Silent_p.L166L|MSH5_ENST00000375750.3_Silent_p.L166L|MSH5_ENST00000375740.3_Silent_p.L166L|MSH5_ENST00000375742.3_Silent_p.L166L|MSH5_ENST00000534153.4_Silent_p.L166L|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375755.3_Silent_p.L166L AGAAAATCCTCTTCCTCTCTT 0.517000 37 228 0 0 0.005524 0 0 GPR173 54328 broad.mit.edu 37 X 53106214 53106214 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:53106214C>G ENST00000332582.4 + 2 902 c.411C>G c.(409-411)ctC>ctG p.L137L NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 137 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 GCATGACACTCTGGACATGCG 0.587000 28 14 0 0 0.005443 0 0 NOL9 79707 broad.mit.edu 37 1 6589194 6589194 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:6589194G>C ENST00000377705.5 - 10 1717 c.1685C>G c.(1684-1686)tCt>tGt p.S562C NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 562 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GGCGACATCAGAGTGGGTAAT 0.468000 6 46 0 0 0.001984 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73339501 73339501 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:73339501G>A ENST00000258098.6 - 1 645 c.405C>T c.(403-405)ttC>ttT p.F135F NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 135 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GGCCTGCGCCGAAGACCTCGT 0.711000 17 22 0 0 0.008871 0 0 LONP2 83752 broad.mit.edu 37 16 48329968 48329968 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:48329968C>T ENST00000285737.4 + 9 1519 c.1426C>T c.(1426-1428)Cta>Tta p.L476L LONP2_ENST00000535754.1_Silent_p.L432L NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 476 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AGATCATTATCTAAATGTGGC 0.393000 61 167 0 0 0.003610 0 0 HMHA1 23526 broad.mit.edu 37 19 1068607 1068607 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:1068607G>A ENST00000313093.2 + 2 516 c.285G>A c.(283-285)ctG>ctA p.L95L HMHA1_ENST00000586866.1_Silent_p.L99L|HMHA1_ENST00000539243.2_Silent_p.L111L|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Silent_p.L122L NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 95 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCCCACTGACAGCCGCCA 0.741000 8 30 0 0 0.003080 0 0 FANCI 55215 broad.mit.edu 37 15 89836185 89836185 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:89836185G>C ENST00000310775.7 + 22 2268 c.2182G>C c.(2182-2184)Gat>Cat p.D728H FANCI_ENST00000300027.8_Missense_Mutation_p.D728H NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 728 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TAAATCAGCAGATTTTTCTCA 0.328000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 88 0 0 0.007291 0 0 MYPN 84665 broad.mit.edu 37 10 69926110 69926110 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:69926110G>A ENST00000358913.5 + 10 2148 c.1660G>A c.(1660-1662)Gca>Aca p.A554T MYPN_ENST00000540630.1_Missense_Mutation_p.A554T|MYPN_ENST00000354393.2_Missense_Mutation_p.A279T NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 554 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CACCAACCTGGCAGCTATTGA 0.552000 11 56 0 0 0.001855 0 0 RHNO1 83695 broad.mit.edu 37 12 2997219 2997219 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:2997219C>T ENST00000489288.2 + 3 463 c.311C>T c.(310-312)tCa>tTa p.S104L RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.S90L NM_001252499.2|NM_001257097.1|NM_001257098.1 NP_001239428.1|NP_001244026.1|NP_001244027.1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 TCTTCCAGTTCAGAGACATTG 0.493000 8 50 0 0 0.004482 0 0 MALAT1 378938 broad.mit.edu 37 11 65269315 65269315 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65269315G>C ENST00000534336.1 + 0 4083 NR_002819.2 TATTAAAGGGGAGGGGCAAAT 0.388000 3 19 0 0 0.004672 0 0 TRPM4 54795 broad.mit.edu 37 19 49661514 49661514 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49661514G>A ENST00000252826.5 + 2 216 c.90G>A c.(88-90)ccG>ccA p.P30P TRPM4_ENST00000427978.2_Silent_p.P30P|TRPM4_ENST00000355712.5_5'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 30 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCACAGATCCGGGGTGAGGAG 0.627000 55 317 0 0 0.003610 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449287 89449287 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:89449287C>A ENST00000399794.2 - 3 938 c.223G>T c.(223-225)Gat>Tat p.D75Y CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D75Y|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 75 RRM. nucleotide binding|RNA binding GCTTTTCCATCTAATGACTTT 0.478000 OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 169 2.48254e-18 3.49363e-18 0.003610 1 0 LEMD3 23592 broad.mit.edu 37 12 65639552 65639552 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:65639552G>A ENST00000308330.2 + 11 2517 c.2491G>A c.(2491-2493)Gag>Aag p.E831K NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 831 Interaction with SMAD1, SMAD2, SMAD3 and SMAD5. negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) AAATTCACGTGAGGTAAAGTA 0.313000 34 60 0 0 0.002096 0 0 PHF1 5252 broad.mit.edu 37 6 33380560 33380560 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33380560G>A ENST00000374516.3 + 4 598 c.327G>A c.(325-327)aaG>aaA p.K109K PHF1_ENST00000374512.3_Silent_p.K109K NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 109 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) GCTGTGAGAAGTGTCGCCATG 0.577000 19 50 0 0 0.008871 0 0 DNAH10 196385 broad.mit.edu 37 12 124398924 124398924 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:124398924G>A ENST00000409039.3 + 60 10072 c.10047G>A c.(10045-10047)ctG>ctA p.L3349L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3349 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAAGCTGCTGGGGGACTGCC 0.607000 23 74 0 0 0.003954 0 0 YKT6 10652 broad.mit.edu 37 7 44250704 44250704 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44250704C>G ENST00000223369.2 + 6 629 c.542C>G c.(541-543)tCt>tGt p.S181C YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) 181 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 GGAACACAGTCTAAAGCCTTC 0.502000 12 41 0 0 0.000978 0 0 DAAM1 23002 broad.mit.edu 37 14 59834201 59834201 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:59834201G>C ENST00000395125.1 + 24 2934 c.2911G>C c.(2911-2913)Gag>Cag p.E971Q DAAM1_ENST00000360909.3_Missense_Mutation_p.E961Q|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.E971Q NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 971 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) ACAACCAGATGAGTTCTTTGG 0.378000 14 62 0 0 0.003163 0 0 EIF4A3 9775 broad.mit.edu 37 17 78115614 78115614 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:78115614G>A ENST00000269349.3 - 3 497 c.276C>T c.(274-276)ttC>ttT p.F92F NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 92 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) CTGAGATACTGAAGGTGGCTG 0.438000 17 42 0 0 0.006122 0 0 STK17B 9262 broad.mit.edu 37 2 197010766 197010766 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:197010766C>T ENST00000263955.4 - 4 635 c.349G>A c.(349-351)Gaa>Aaa p.E117K STK17B_ENST00000409228.1_Missense_Mutation_p.E117K NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 117 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) CTGAAAATTTCTCCACCTGCA 0.313000 6 9 0 0 0.001168 0 0 SBF2 81846 broad.mit.edu 37 11 10014566 10014566 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:10014566G>A ENST00000256190.8 - 11 1275 c.1138C>T c.(1138-1140)Cat>Tat p.H380Y SBF2_ENST00000527019.1_5'UTR NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 380 dDENN. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GGCTCTGCATGAATTCTTATA 0.318000 32 81 0 0 0.003271 0 0 TMEM45A 55076 broad.mit.edu 37 3 100277340 100277340 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:100277340C>T ENST00000403410.1 + 6 1163 c.543C>T c.(541-543)ctC>ctT p.L181L TMEM45A_ENST00000323523.4_Silent_p.L165L Q9NWC5 TM45A_HUMAN transmembrane protein 45A 165 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 TGACAGGCCTCGTTGCCTTCC 0.502000 32 178 0 0 0.008361 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530815 140530815 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140530815C>T ENST00000231136.1 + 1 977 c.977C>T c.(976-978)tCa>tTa p.S326L PCDHB6_ENST00000543635.1_Missense_Mutation_p.S190L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 326 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGCCTATCAGGAAAATGC 0.468000 17 48 0 0 0.004007 0 0 THSD7B 80731 broad.mit.edu 37 2 137852590 137852590 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:137852590G>A ENST00000409968.1 + 4 1276 c.1098G>A c.(1096-1098)cgG>cgA p.R366R THSD7B_ENST00000543459.1_Silent_p.R225R|THSD7B_ENST00000413152.2_Silent_p.R335R|THSD7B_ENST00000272643.3_Silent_p.R366R thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCAGGAGCCGGAACGTGAAGC 0.537000 7 47 0 0 0.003080 0 0 UBR2 23304 broad.mit.edu 37 6 42655960 42655960 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:42655960G>A ENST00000372901.1 + 45 5118 c.4860G>A c.(4858-4860)ccG>ccA p.P1620P UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.P1620P Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1620 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GGAGGTGCCCGAAATCAGGTG 0.483000 17 119 0 0 0.004007 0 0 ABCA8 10351 broad.mit.edu 37 17 66899010 66899010 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66899010G>C ENST00000269080.2 - 19 2625 c.2488C>G c.(2488-2490)Cta>Gta p.L830V ABCA8_ENST00000430352.2_Missense_Mutation_p.L870V|ABCA8_ENST00000586539.1_Missense_Mutation_p.L870V NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 830 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CCAGCCATTAGAATTAATAGC 0.348000 20 106 0 0 0.003954 0 0 C2CD3 26005 broad.mit.edu 37 11 73820130 73820130 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73820130C>A ENST00000334126.7 - 12 2137 c.1911G>T c.(1909-1911)tgG>tgT p.W637C C2CD3_ENST00000313663.7_Missense_Mutation_p.W637C Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 637 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GGTTGGAATTCCACCAGTGCT 0.433000 19 47 7.07596e-05 9.39604e-05 0.006122 1 0 MAP1S 55201 broad.mit.edu 37 19 17838864 17838864 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:17838864G>A ENST00000324096.4 + 5 2822 c.2671G>A c.(2671-2673)Ggt>Agt p.G891S CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.G865S NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 891 Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 GGGGCTTGCTGGTGGGGACCG 0.682000 10 26 0 0 0.008291 0 0 CNOT1 23019 broad.mit.edu 37 16 58621270 58621270 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:58621270G>C ENST00000317147.5 - 5 689 c.357C>G c.(355-357)ctC>ctG p.L119L CNOT1_ENST00000441024.2_Silent_p.L119L|CNOT1_ENST00000569240.1_Silent_p.L119L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 119 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGCTTAATTTGAGCACTTTAC 0.323000 15 118 0 0 0.006122 0 0 PGLS 25796 broad.mit.edu 37 19 17631815 17631815 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:17631815G>A ENST00000252603.2 + 5 746 c.702G>A c.(700-702)ggG>ggA p.G234G NM_012088.2 NP_036220.1 O95336 6PGL_HUMAN 6-phosphogluconolactonase 234 cytosol 6-phosphogluconolactonase activity endometrium(1)|lung(1) 2 CCCACACCGGGAAACTGTGCT 0.652000 5 9 0 0 0.000602 0 0 ADCY10 55811 broad.mit.edu 37 1 167871047 167871047 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:167871047C>G ENST00000367848.1 - 5 510 c.13G>C c.(13-15)Gaa>Caa p.E5Q ADCY10_ENST00000367851.4_Intron|ADCY10_ENST00000545172.1_Intron Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 0 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GCATCACCTTCAGAGAGAGAC 0.458000 27 147 0 0 0.005443 0 0 RELA 5970 broad.mit.edu 37 11 65427190 65427190 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65427190G>C ENST00000525693.1 - 6 568 c.506C>G c.(505-507)tCa>tGa p.S169* RELA_ENST00000406246.3_Nonsense_Mutation_p.S169*|RELA_ENST00000308639.9_Nonsense_Mutation_p.S166* Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 169 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GGGCCTGCCTGATGGGTCCCG 0.587000 26 74 0 0 0.007291 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340499 29340499 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:29340499G>T ENST00000269205.5 - 1 344 c.156C>A c.(154-156)ttC>ttA p.F52L SLC25A52_ENST00000579441.2_Missense_Mutation_p.F42L NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 42 transport integral to membrane|mitochondrial inner membrane CGACGTTGTTGAAGGCTGCAC 0.438000 49 126 6.03219e-31 8.57818e-31 0.003610 1 0 OCA2 4948 broad.mit.edu 37 15 28277301 28277301 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:28277301G>T ENST00000354638.3 - 3 391 c.236C>A c.(235-237)tCt>tAt p.S79Y OCA2_ENST00000382996.2_Missense_Mutation_p.S79Y|OCA2_ENST00000353809.5_Missense_Mutation_p.S79Y NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 79 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGGCAAAGAAGAGTGAGACCT 0.443000 Oculocutaneous Albinism 31 82 1.75199e-13 2.43598e-13 0.007291 1 0 CNNM2 54805 broad.mit.edu 37 10 104678701 104678701 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:104678701C>G ENST00000369878.4 + 1 652 c.464C>G c.(463-465)tCa>tGa p.S155* CNNM2_ENST00000433628.2_Nonsense_Mutation_p.S155*|CNNM2_ENST00000369875.3_Nonsense_Mutation_p.S155* NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ATCCGCACCTCAGACATCATC 0.677000 28 196 0 0 0.004656 0 0 CCDC114 93233 broad.mit.edu 37 19 48801464 48801464 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:48801464G>T ENST00000315396.7 - 11 1945 c.1263C>A c.(1261-1263)ctC>ctA p.L421L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 421 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GCACTGTCAGGAGCTCCACCA 0.652000 15 56 3.27435e-08 4.43869e-08 0.002450 1 0 TRAFD1 10906 broad.mit.edu 37 12 112585913 112585913 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:112585913C>T ENST00000257604.5 + 8 1580 c.963C>T c.(961-963)ctC>ctT p.L321L TRAFD1_ENST00000412615.2_Silent_p.L321L NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 321 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TACCTTCACTCAATACTGGCA 0.423000 15 47 0 0 0.003163 0 0 SLC25A33 84275 broad.mit.edu 37 1 9633411 9633411 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:9633411C>A ENST00000302692.6 + 5 633 c.423C>A c.(421-423)atC>atA p.I141I NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 141 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CAGCTTTTATCACAAATTCCT 0.294000 6 20 0.00116845 0.00154398 0.001168 1 0 ZNF549 256051 broad.mit.edu 37 19 58049333 58049333 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58049333G>A ENST00000376233.3 + 4 1142 c.961G>A c.(961-963)Gaa>Aaa p.E321K ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E308K|ZNF549_ENST00000594943.1_Intron NM_001199295.1 NP_001186224 Q6P9A3 ZN549_HUMAN zinc finger protein 549 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCACTTGTGGAACACCAGAG 0.438000 21 90 0 0 0.001523 0 0 ZNF555 148254 broad.mit.edu 37 19 2853858 2853858 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:2853858C>T ENST00000334241.4 + 4 1933 c.1795C>T c.(1795-1797)Cct>Tct p.P599S AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P598S NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTAGGACATCCTCCTGCAAA 0.388000 15 87 0 0 0.004007 0 0 GPR75 10936 broad.mit.edu 37 2 54080974 54080974 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:54080974G>A ENST00000394705.2 - 2 1190 c.920C>T c.(919-921)tCa>tTa p.S307L ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 307 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTTGATGGCTGATACGAGCTG 0.532000 11 41 0 0 0.008291 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39378461 39378461 + Translation_Start_Site SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:39378461G>C ENST00000402182.3 + 1 58 c.3G>C c.(1-3)atG>atC p.M1I APOBEC3B_ENST00000333467.3_Start_Codon_SNP_p.M1I|APOBEC3B_ENST00000407298.3_Start_Codon_SNP_p.M1I Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 1 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GGCTGAACATGAATCCACAGA 0.597000 30 19 0 0 0.002445 0 0 TMED8 283578 broad.mit.edu 37 14 77808143 77808143 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:77808143G>C ENST00000216468.7 - 6 1004 c.949C>G c.(949-951)Ctc>Gtc p.L317V NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 317 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) TGGAAGTAGAGAGTCTTGTTG 0.577000 38 86 0 0 0.002522 0 0 TMEM179B 374395 broad.mit.edu 37 11 62557518 62557518 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62557518G>A ENST00000333449.4 + 5 664 c.659G>A c.(658-660)tGa>tAa p.*220* TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 0 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 TCCCATTCCTGAAGAATAAGC 0.562000 19 42 0 0 0.008871 0 0 MSMO1 6307 broad.mit.edu 37 4 166254535 166254535 + Missense_Mutation SNP G G A rs146748626 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:166254535G>A ENST00000261507.6 + 2 186 c.13G>A c.(13-15)Gaa>Aaa p.E5K MSMO1_ENST00000504317.1_Missense_Mutation_p.E5K|MSMO1_ENST00000393766.2_Intron NM_006745.4 NP_006736.1 Q15800 ERG25_HUMAN methylsterol monooxygenase 1 5 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding NADH(DB00157) GGCAACAAATGAAAGTGTCAG 0.323000 21 56 0 0 0.003330 0 0 RAVER2 55225 broad.mit.edu 37 1 65243754 65243754 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:65243754C>T ENST00000294428.3 + 3 843 c.765C>T c.(763-765)gtC>gtT p.V255V RAVER2_ENST00000371072.4_Silent_p.V255V|RAVER2_ENST00000430964.2_5'UTR Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 255 RRM 3. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TTTCCAGTGTCCATAAACCTG 0.318000 22 49 0 0 0.003330 0 0 PDPK1 5170 broad.mit.edu 37 16 2647748 2647748 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:2647748C>G ENST00000342085.4 + 14 1800 c.1651C>G c.(1651-1653)Ccg>Gcg p.P551A PDPK1_ENST00000354836.5_Missense_Mutation_p.P527A|PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000268673.7_Missense_Mutation_p.P424A|PDPK1_ENST00000389224.3_Missense_Mutation_p.P524A NM_002613.4 NP_002604.1 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 551 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) CCAGAGCCACCCGGACGCCGC 0.662000 14 35 0 0 0.002450 0 0 ABCG4 64137 broad.mit.edu 37 11 119027643 119027643 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:119027643G>C ENST00000307417.3 + 9 1351 c.987G>C c.(985-987)caG>caC p.Q329H AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.Q329H|ABCG4_ENST00000449422.2_Missense_Mutation_p.Q329H NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 329 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GGGCTGTGCAGAATGGGCTGT 0.582000 22 98 0 0 0.002780 0 0 MAPT 4137 broad.mit.edu 37 17 44061213 44061213 + Missense_Mutation SNP A A T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:44061213A>T ENST00000344290.5 + 6 1365 c.1043A>T c.(1042-1044)gAg>gTg p.E348V MAPT_ENST00000571987.1_Missense_Mutation_p.E348V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E348V|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E348V|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 348 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GACACAAAAGAGGCTGACCTT 0.637000 27 98 0 0 0.005443 0 0 PFN3 345456 broad.mit.edu 37 5 176827416 176827416 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:176827416C>T ENST00000358571.2 - 1 221 c.162G>A c.(160-162)ccG>ccA p.P54P NM_001029886.2 NP_001025057.1 P60673 PROF3_HUMAN profilin 3 54 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTGCCTGTCCGGCCCCGTGA 0.746000 4 5 0 0 0.000248 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892252 205892252 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:205892252C>T ENST00000367135.3 - 16 1844 c.1731G>A c.(1729-1731)atG>atA p.M577I SLC26A9_ENST00000340781.4_Missense_Mutation_p.M577I|SLC26A9_ENST00000367134.2_Missense_Mutation_p.M577I NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 577 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GTGTGGGCCTCATTCTCCGCT 0.522000 23 101 0 0 0.003954 0 0 DHX35 60625 broad.mit.edu 37 20 37662928 37662928 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:37662928G>C ENST00000252011.3 + 21 2068 c.2035G>C c.(2035-2037)Gag>Cag p.E679Q DHX35_ENST00000373325.2_Missense_Mutation_p.E655Q|DHX35_ENST00000373323.4_Missense_Mutation_p.E648Q NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 679 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CTGGCTGTTGGAGCTGGCTCC 0.448000 33 78 0 0 0.005524 0 0 SZT2 23334 broad.mit.edu 37 1 43908143 43908143 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43908143G>C ENST00000562955.1 + 57 7834 c.7834G>C c.(7834-7836)Gac>Cac p.D2612H SZT2_ENST00000372442.1_Missense_Mutation_p.D1770H NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2669 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTGGGCTCCAGACCTGGGGGC 0.617000 24 55 0 0 0.003330 0 0 MAP6 4135 broad.mit.edu 37 11 75298605 75298605 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:75298605C>T ENST00000304771.3 - 4 2691 c.1941G>A c.(1939-1941)ccG>ccA p.P647P CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.P318P NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 647 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) TTTCATCCTTCGGATGCTCTG 0.512000 58 129 0 0 0.003610 0 0 C10orf67 256815 broad.mit.edu 37 10 23611391 23611391 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:23611391C>G ENST00000323327.4 - 3 473 c.406G>C c.(406-408)Gag>Cag p.E136Q NM_153714.2 NP_714925.2 Q8IYJ2 CJ067_HUMAN chromosome 10 open reading frame 67 136 central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 AAAGATTCCTCTTTCAGTCGG 0.348000 16 103 0 0 0.006122 0 0 ACTG1P17 283693 broad.mit.edu 37 15 83395260 83395260 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:83395260G>C ENST00000560958.1 - 0 1026 NR_036446.1 TCCTGTGTGTGATACTTGGGT 0.498000 5 7 0 0 0.000602 0 0 PPARG 5468 broad.mit.edu 37 3 12458253 12458253 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:12458253C>G ENST00000397026.2 + 8 1187 c.804C>G c.(802-804)atC>atG p.I268M PPARG_ENST00000309576.6_Missense_Mutation_p.I262M|PPARG_ENST00000397010.2_Missense_Mutation_p.I262M|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.I290M|PPARG_ENST00000397015.2_Missense_Mutation_p.I262M|PPARG_ENST00000397012.2_Missense_Mutation_p.I262M|PPARG_ENST00000539812.1_Intron P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 290 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AAGATAAAATCAAGTTCAAAC 0.473000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 17 27 0 0 0.004990 0 0 KRT12 3859 broad.mit.edu 37 17 39022938 39022938 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39022938C>T ENST00000251643.4 - 1 524 c.501G>A c.(499-501)ggG>ggA p.G167G NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 167 Linker 1.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CATCTGCAGTCCCAGTTCCTC 0.413000 46 146 0 0 0.003214 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255144 9255144 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:9255144G>A ENST00000262126.4 + 9 2119 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K ANKRD12_ENST00000383440.2_Missense_Mutation_p.E604K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E604K NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus p.E627K(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AATAAAGGATGAAGATCATAG 0.284000 25 82 0 0 0.002780 0 0 REPS2 9185 broad.mit.edu 37 X 17040287 17040287 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:17040287G>A ENST00000357277.3 + 3 610 c.439G>A c.(439-441)Gag>Aag p.E147K REPS2_ENST00000303843.7_Missense_Mutation_p.E147K|REPS2_ENST00000380064.4_Missense_Mutation_p.E8K NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 147 EH 1. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) GAATGATGGTGAGATACGATT 0.388000 107 57 0 0 0.003610 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091383 19091383 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:19091383G>A ENST00000365494.1 + 0 55 aagtttctctgaacgtgtaga 0.507000 30 354 0 0 0.003610 0 0 KNOP1 400506 broad.mit.edu 37 16 19726086 19726086 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:19726086C>G ENST00000219837.7 - 2 350 c.272G>C c.(271-273)aGa>aCa p.R91T AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 CTCTGTCCGTCTAGCAGGCAG 0.507000 17 92 0 0 0.006122 0 0 ZNF441 126068 broad.mit.edu 37 19 11892012 11892012 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11892012C>G ENST00000357901.4 + 4 1475 c.1373C>G c.(1372-1374)tCt>tGt p.S458C ZNF441_ENST00000454339.2_Missense_Mutation_p.S391C NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCTTCAGGTCTTCCAATTAC 0.398000 28 43 0 0 0.005443 0 0 DUSP10 11221 broad.mit.edu 37 1 221876002 221876002 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:221876002C>G ENST00000366899.3 - 4 1439 c.1201G>C c.(1201-1203)Ggg>Cgg p.G401R DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.G59R|DUSP10_ENST00000544095.1_Missense_Mutation_p.G59R NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 401 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) AGCCCCTTCCCACACTGGTGA 0.522000 14 42 0 0 0.003163 0 0 OR5A2 219981 broad.mit.edu 37 11 59190117 59190117 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:59190117C>A ENST00000302040.4 - 1 332 c.310G>T c.(310-312)Gtc>Ttc p.V104F NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 CCACAGAAGACAAAGTACTGA 0.507000 21 56 2.37509e-13 3.29953e-13 0.001523 1 0 NFE2 4778 broad.mit.edu 37 12 54686808 54686808 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54686808G>A ENST00000540264.2 - 2 981 c.472C>T c.(472-474)Ctt>Ttt p.L158F RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.L158F|NFE2_ENST00000553070.1_Missense_Mutation_p.L158F|NFE2_ENST00000435572.2_Missense_Mutation_p.L158F Q16621 NFE2_HUMAN nuclear factor, erythroid 2 158 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TCCAGCTCAAGAGATTCAGCA 0.572000 48 133 0 0 0.003610 0 0 IGSF10 285313 broad.mit.edu 37 3 151154669 151154669 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:151154669G>A ENST00000282466.3 - 6 7679 c.7680C>T c.(7678-7680)atC>atT p.I2560I MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2560 Ig-like C2-type 12. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTCCCATGTGATTTCTGGCT 0.522000 15 57 0 0 0.002450 0 0 OR5L2 26338 broad.mit.edu 37 11 55595152 55595152 + Missense_Mutation SNP C C T rs144590289 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:55595152C>T ENST00000378397.1 + 1 458 c.458C>T c.(457-459)aCg>aTg p.T153M NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TTCTGTGGGACGGTGTGTTCT 0.488000 HNSCC(27;0.073) 35 127 0 0 0.004878 0 0 ATIC 471 broad.mit.edu 37 2 216213870 216213870 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:216213870C>T ENST00000435675.1 + 14 1945 c.1554C>T c.(1552-1554)ctC>ctT p.L518L ATIC_ENST00000540518.1_Silent_p.L460L|ATIC_ENST00000236959.9_Silent_p.L519L P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 519 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CTGAGTTACTCACTGAGGCAG 0.448000 T ALK ALCL 34 87 0 0 0.003755 0 0 IQCG 84223 broad.mit.edu 37 3 197652965 197652965 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:197652965C>T ENST00000265239.6 - 7 1080 c.656G>A c.(655-657)gGa>gAa p.G219E IQCG_ENST00000455191.1_Missense_Mutation_p.G219E|IQCG_ENST00000453254.1_Missense_Mutation_p.G219E NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 219 p.G219V(1) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CTGTTTTCTTCCTTTTTCCTC 0.368000 21 41 0 0 0.008871 0 0 MYBL1 4603 broad.mit.edu 37 8 67507965 67507965 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:67507965C>T ENST00000522677.3 - 6 950 c.540G>A c.(538-540)tgG>tgA p.W180* MYBL1_ENST00000524176.2_Nonsense_Mutation_p.W180*|MYBL1_ENST00000517885.1_Intron NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 180 HTH myb-type 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TAGTAGAATTCCAATGATTTT 0.333000 4 6 0 0 0.000248 0 0 ZNF433 163059 broad.mit.edu 37 19 12125889 12125889 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12125889G>C ENST00000419886.2 - 5 1979 c.1688C>G c.(1687-1689)tCt>tGt p.S563C ZNF433_ENST00000344980.6_Missense_Mutation_p.S598C|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 ACATCCAAAAGACTTCCCACA 0.468000 30 125 0 0 0.001786 0 0 REC8 9985 broad.mit.edu 37 14 24648862 24648862 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:24648862G>C ENST00000311457.3 + 18 1977 c.1378G>C c.(1378-1380)Gag>Cag p.E460Q REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Missense_Mutation_p.E460Q O95072 REC8_HUMAN REC8 meiotic recombination protein 461 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) TGAACTCCCTGAGGTGCCCAT 0.627000 27 68 0 0 0.003954 0 0 CPN1 1369 broad.mit.edu 37 10 101841262 101841262 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:101841262C>G ENST00000370418.3 - 1 372 c.121G>C c.(121-123)Gaa>Caa p.E41Q NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 41 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCGGGGCATTCGTTTTGCACC 0.597000 21 36 0 0 0.001882 0 0 CLDN14 23562 broad.mit.edu 37 21 37833718 37833718 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:37833718G>A ENST00000399137.1 - 3 1142 c.276C>T c.(274-276)ggC>ggT p.G92G CLDN14_ENST00000342108.2_Silent_p.G92G|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Silent_p.G92G|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Silent_p.G92G|CLDN14_ENST00000399136.1_Silent_p.G92G NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 92 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 CGCAGGCTATGCCCGAGAGCA 0.662000 26 36 0 0 0.004656 0 0 ZNF668 79759 broad.mit.edu 37 16 31075325 31075325 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:31075325G>A ENST00000538906.1 - 2 1240 c.456C>T c.(454-456)ctC>ctT p.L152L ZNF668_ENST00000535577.1_Silent_p.L152L|ZNF668_ENST00000539836.3_Silent_p.L175L|ZNF668_ENST00000300849.4_Silent_p.L152L|ZNF668_ENST00000426488.2_Silent_p.L175L|ZNF668_ENST00000394983.2_Silent_p.L152L NM_001172668.1 NP_001166139 Q96K58 ZN668_HUMAN zinc finger protein 668 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TGAGCTTGGAGAGCGCGCCAT 0.672000 11 16 0 0 0.001368 0 0 CERS5 91012 broad.mit.edu 37 12 50536906 50536906 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:50536906G>A ENST00000317551.6 - 3 509 c.385C>T c.(385-387)Cgg>Tgg p.R129W CERS5_ENST00000422340.2_Missense_Mutation_p.R71W NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 129 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGATTCCTCCGATGGCGAAAC 0.478000 124 307 0 0 0.003610 0 0 DDX20 11218 broad.mit.edu 37 1 112309338 112309338 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:112309338G>C ENST00000475700.1 + 3 3474 c.1116G>C c.(1114-1116)ctG>ctC p.L372L DDX20_ENST00000369702.4_Silent_p.L764L Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 764 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATACGTCTGAGTTTTTCTG 0.453000 5 55 0 0 0.001984 0 0 OAS3 4940 broad.mit.edu 37 12 113376424 113376424 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:113376424G>A ENST00000228928.7 + 1 268 c.89G>A c.(88-90)cGg>cAg p.R30Q OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Missense_Mutation_p.R30Q|OAS3_ENST00000551007.1_Missense_Mutation_p.R30Q|RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 30 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GAGAAGGCGCGGCGCGCTCTG 0.721000 6 31 0 0 0.001984 0 0 OR6F1 343169 broad.mit.edu 37 1 247875277 247875277 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:247875277G>A ENST00000302084.2 - 1 828 c.781C>T c.(781-783)Cgc>Tgc p.R261C RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ATAGAGGTGCGGACGTGAAGG 0.522000 15 71 0 0 0.002450 0 0 SLC6A3 6531 broad.mit.edu 37 5 1414876 1414876 + Missense_Mutation SNP G G C rs28363072 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:1414876G>C ENST00000270349.9 - 8 1213 c.1086C>G c.(1084-1086)ttC>ttG p.F362L SLC6A3_ENST00000453492.2_Missense_Mutation_p.F362L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 362 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGAAGACGACGAAGCCGGAGG 0.617000 14 62 0 0 0.004990 0 0 C5orf56 441108 broad.mit.edu 37 5 131796262 131796262 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:131796262C>G ENST00000337752.2 + 4 228 c.97C>G c.(97-99)Caa>Gaa p.Q33E C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 33 breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 agggaatcttcaaactcttct 0.552000 33 254 0 0 0.003755 0 0 LPHN2 23266 broad.mit.edu 37 1 82409390 82409390 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:82409390G>A ENST00000370728.1 + 8 1780 c.1135G>A c.(1135-1137)Gtg>Atg p.V379M LPHN2_ENST00000335786.5_Missense_Mutation_p.V379M|LPHN2_ENST00000370730.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370721.1_Missense_Mutation_p.V383M|LPHN2_ENST00000370715.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370727.1_Missense_Mutation_p.V379M|LPHN2_ENST00000271029.4_Missense_Mutation_p.V379M|LPHN2_ENST00000370713.1_Missense_Mutation_p.V379M|LPHN2_ENST00000394879.1_Missense_Mutation_p.V379M|LPHN2_ENST00000359929.3_Missense_Mutation_p.V379M|LPHN2_ENST00000370717.2_Missense_Mutation_p.V379M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.V379M|LPHN2_ENST00000319517.6_Missense_Mutation_p.V379M|LPHN2_ENST00000370723.1_Missense_Mutation_p.V379M O95490 LPHN2_HUMAN latrophilin 2 379 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CCAACTTTACGTGTGGAACAA 0.408000 24 91 0 0 0.002780 0 0 IFIT3 3437 broad.mit.edu 37 10 91099478 91099478 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:91099478G>A ENST00000371818.4 + 2 1246 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K IFIT3_ENST00000371811.4_Missense_Mutation_p.E356K|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 356 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 CCCTGATGCTGAAAAGCAACA 0.453000 27 38 0 0 0.003954 0 0 WNT6 7475 broad.mit.edu 37 2 219738481 219738481 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219738481G>C ENST00000233948.3 + 4 1229 c.1012G>C c.(1012-1014)Gag>Cag p.E338Q NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 338 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGCTCGAAGAGAACTGCCT 0.711000 3 14 0 0 0.004672 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36096603 36096603 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:36096603C>G ENST00000258840.6 - 34 5563 c.5173G>C c.(5173-5175)Gaa>Caa p.E1725Q RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1691Q|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E1678Q|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1678Q NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1678 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGAACATCTTCTTCATCTCTT 0.368000 11 121 0 0 0.000978 0 0 C19orf45 374877 broad.mit.edu 37 19 7569023 7569023 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:7569023C>T ENST00000361664.2 + 3 735 c.594C>T c.(592-594)ctC>ctT p.L198L NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 198 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 CCAACACCCTCAAGTGGGACT 0.547000 7 34 0 0 0.003080 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500575 31500575 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:31500575C>G ENST00000330498.3 + 12 1600 c.1581C>G c.(1579-1581)ctC>ctG p.L527L NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 527 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TGCACTACCTCTACTTCGCCA 0.642000 13 43 0 0 0.001855 0 0 TTC25 83538 broad.mit.edu 37 17 40095357 40095357 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:40095357G>C ENST00000591658.1 + 0 1058 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding p.Q330Q(1) endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) GGAATGCCCAGATTGAGCTGG 0.537000 9 35 0 0 0.004482 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610264 47610264 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:47610264G>A ENST00000371891.3 + 8 971 c.940G>A c.(940-942)Gag>Aag p.E314K CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.E314K NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 314 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding p.E314Q(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTCCGTGCTGAGGTGGACAC 0.552000 14 129 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9084097 9084097 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9084097G>A ENST00000397910.4 - 1 7921 c.7718C>T c.(7717-7719)tCt>tTt p.S2573F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2573 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTGGTGAAGAATGAATGGC 0.502000 28 102 0 0 0.006320 0 0 PKD2L1 9033 broad.mit.edu 37 10 102089772 102089772 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:102089772G>A ENST00000318222.3 - 1 471 c.89C>T c.(88-90)tCc>tTc p.S30F PKD2L1_ENST00000353274.3_Missense_Mutation_p.S30F|PKD2L1_ENST00000338519.3_Missense_Mutation_p.S30F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 30 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CCCGTGTGGGGAAGGGGGACC 0.622000 39 80 0 0 0.002222 0 0 DMBT1 1755 broad.mit.edu 37 10 124390773 124390773 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:124390773G>A ENST00000338354.3 + 46 6041 c.5935G>A c.(5935-5937)Gaa>Aaa p.E1979K DMBT1_ENST00000359586.6_Missense_Mutation_p.E699K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1969K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1979K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1969K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1351K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1351K Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1979 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TAATCATCGTGAAGATGCTGG 0.537000 30 139 0 0 0.003271 0 0 SMYD2 56950 broad.mit.edu 37 1 214505378 214505378 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:214505378G>A ENST00000366957.5 + 10 977 c.955G>A c.(955-957)Gag>Aag p.E319K SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 319 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) TGAGCTGCTGGAGATCTGCGA 0.562000 OREG0012979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 38 0 0 0.003080 0 0 ITGA6 3655 broad.mit.edu 37 2 173355768 173355768 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:173355768G>A ENST00000375221.2 + 22 3016 c.2813G>A c.(2812-2814)aGa>aAa p.R938K ITGA6_ENST00000264106.6_Missense_Mutation_p.R938K|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.R899K|ITGA6_ENST00000409532.1_Missense_Mutation_p.R780K|ITGA6_ENST00000343713.4_Missense_Mutation_p.R894K|ITGA6_ENST00000264107.7_Missense_Mutation_p.R899K P23229 ITA6_HUMAN integrin, alpha 6 938 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CACAACTCAAGAAAGAAACGG 0.308000 35 191 0 0 0.003755 0 0 USP24 23358 broad.mit.edu 37 1 55595217 55595217 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:55595217C>T ENST00000294383.6 - 32 3567 c.3568G>A c.(3568-3570)Gat>Aat p.D1190N USP24_ENST00000407756.1_Missense_Mutation_p.D1030N NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1190 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 ATGTCATCATCAGCTGTTGGC 0.398000 9 60 0 0 0.004482 0 0 SLC16A5 9121 broad.mit.edu 37 17 73089809 73089809 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:73089809C>T ENST00000450736.2 + 2 493 c.78C>T c.(76-78)ctC>ctT p.L26L SLC16A5_ENST00000329783.4_Silent_p.L26L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Silent_p.L26L|SLC16A5_ENST00000538213.2_Silent_p.L66L O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 26 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CCCAGGGCCTCACCCTGGGCT 0.637000 27 85 0 0 0.004656 0 0 CHD9 80205 broad.mit.edu 37 16 53352139 53352139 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:53352139G>A ENST00000566029.1 + 37 7761 c.7552G>A c.(7552-7554)Gag>Aag p.E2518K CHD9_ENST00000447540.1_Missense_Mutation_p.E2519K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2534K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2518K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2534 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GCAGCTTCATGAGGGAAGACC 0.338000 12 33 0 0 0.001368 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788139 140788139 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140788139G>A ENST00000520790.1 + 1 370 c.370G>A c.(370-372)Gag>Aag p.E124K PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGTGATTGAGGATGTTAA 0.398000 47 88 0 0 0.003610 0 0 DHRS13 147015 broad.mit.edu 37 17 27228278 27228278 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:27228278G>A ENST00000394901.3 - 3 654 c.262C>T c.(262-264)Ctg>Ttg p.L88L DHRS13_ENST00000378895.4_Silent_p.L138L|DHRS13_ENST00000426464.2_Silent_p.L57L Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 138 extracellular region binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) ACCCGAAGCAGCAGGTTAAAC 0.602000 11 141 0 0 0.000978 0 0 DHX35 60625 broad.mit.edu 37 20 37662949 37662949 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:37662949C>G ENST00000252011.3 + 21 2089 c.2056C>G c.(2056-2058)Caa>Gaa p.Q686E DHX35_ENST00000373325.2_Missense_Mutation_p.Q662E|DHX35_ENST00000373323.4_Missense_Mutation_p.Q655E NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 686 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) ACACTTTTATCAACAAGGAAC 0.448000 25 74 0 0 0.005443 0 0 BIRC6 57448 broad.mit.edu 37 2 32678919 32678919 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:32678919C>T ENST00000421745.2 + 23 4796 c.4662C>T c.(4660-4662)ttC>ttT p.F1554F NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1554 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGGGTAGTTTCACATCTCTCA 0.383000 70 125 0 0 0.003610 0 0 IRF6 3664 broad.mit.edu 37 1 209974644 209974644 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:209974644G>C ENST00000367021.3 - 3 287 c.115C>G c.(115-117)Ccc>Gcc p.P39A IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 39 P -> A (in VWS). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGTTTCCAGGGAATCTGGAAG 0.512000 HNSCC(57;0.16) 15 120 0 0 0.004007 0 0 CASP1 834 broad.mit.edu 37 11 104903799 104903799 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:104903799G>A ENST00000533400.1 - 3 364 c.329C>T c.(328-330)tCc>tTc p.S110F CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.S110F|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.S71F|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.S110F NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 110 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) ACCTGGAAAGGAAGAAAGTAC 0.368000 14 37 0 0 0.004990 0 0 FANCI 55215 broad.mit.edu 37 15 89835963 89835963 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:89835963G>C ENST00000310775.7 + 21 2123 c.2037G>C c.(2035-2037)aaG>aaC p.K679N FANCI_ENST00000300027.8_Missense_Mutation_p.K679N NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 679 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CCTGGTATAAGAATACAGTCA 0.378000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 58 0 0 0.006320 0 0 TDRD6 221400 broad.mit.edu 37 6 46660346 46660346 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46660346G>C ENST00000544460.1 + 1 4735 c.4481G>C c.(4480-4482)aGt>aCt p.S1494T TDRD6_ENST00000316081.6_Missense_Mutation_p.S1494T NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1494 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTAATTAAAAGTGCCAGTTCA 0.348000 10 68 0 0 0.008291 0 0 SVIL 6840 broad.mit.edu 37 10 29820964 29820964 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:29820964G>T ENST00000375398.2 - 11 2425 c.1976C>A c.(1975-1977)cCt>cAt p.P659H SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.P659H O95425 SVIL_HUMAN supervillin 659 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGAAGTTATAGGTTGGGTTCT 0.488000 18 139 1.15919e-05 1.55195e-05 0.008871 1 0 BTBD10 84280 broad.mit.edu 37 11 13435141 13435141 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:13435141C>T ENST00000278174.5 - 6 989 c.744G>A c.(742-744)ctG>ctA p.L248L BTBD10_ENST00000530907.1_Silent_p.L256L|BTBD10_ENST00000528120.1_Silent_p.L200L NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 248 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) ATGCTTCTCTCAGTTCAGGAA 0.328000 8 61 0 0 0.003080 0 0 NF1 4763 broad.mit.edu 37 17 29552264 29552264 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:29552264C>G ENST00000358273.4 + 17 2380 c.1997C>G c.(1996-1998)tCt>tGt p.S666C NF1_ENST00000356175.3_Missense_Mutation_p.S666C NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 666 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGGAACTCCTCTATGGTCAGC 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 16 111 0 0 0.007413 0 0 MALAT1 378938 broad.mit.edu 37 11 65268884 65268884 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65268884G>A ENST00000534336.1 + 0 3652 NR_002819.2 GTCTGTGGAAGAGATGTCCAT 0.383000 4 25 0 0 0.000602 0 0 S1PR2 9294 broad.mit.edu 37 19 10335096 10335096 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10335096G>A ENST00000590320.1 - 2 596 c.486C>T c.(484-486)ctC>ctT p.L162L NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 162 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCAGGCCACCGAGGACCAGCG 0.627000 22 54 0 0 0.002299 0 0 DSC2 1824 broad.mit.edu 37 18 28673588 28673588 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:28673588C>G ENST00000280904.6 - 2 531 c.88G>C c.(88-90)Gat>Cat p.D30H DSC2_ENST00000251081.6_Missense_Mutation_p.D30H NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 30 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTGCAGGCATCACTGGCAAAT 0.269000 54 135 0 0 0.003610 0 0 PRPF4 9128 broad.mit.edu 37 9 116053935 116053935 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:116053935G>C ENST00000374199.4 + 14 1962 c.1561G>C c.(1561-1563)Gaa>Caa p.E521Q PRPF4_ENST00000374198.4_Missense_Mutation_p.E522Q O43172 PRP4_HUMAN pre-mRNA processing factor 4 522 A -> L (in Ref. 1; AAB87640). Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GTGGATGGCTGAATAGATGAC 0.453000 20 17 0 0 0.007413 0 0 FAM46B 115572 broad.mit.edu 37 1 27332842 27332842 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:27332842G>A ENST00000289166.5 - 2 1036 c.871C>T c.(871-873)Cgg>Tgg p.R291W NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 291 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GGCCGGGGCCGGAAGCCCCGC 0.677000 7 33 0 0 0.003080 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102502930 102502930 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:102502930G>A ENST00000360184.4 + 57 11023 c.10859G>A c.(10858-10860)aGa>aAa p.R3620K RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3620 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GACGCCTTCAGAAAGAACTTA 0.468000 40 118 0 0 0.007835 0 0 RSPH10B 222967 broad.mit.edu 37 7 5983622 5983622 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:5983622C>T ENST00000405415.1 - 13 1916 c.e13-1 RSPH10B_ENST00000441023.2_Splice_Site|RSPH10B_ENST00000535104.1_Intron|RSPH10B_ENST00000404406.1_Splice_Site|RSPH10B_ENST00000337579.3_Splice_Site|RSPH10B_ENST00000539903.1_Intron B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) GCTTCTCTTTCTGTGATAATC 0.393000 14 36 0 0 0.002780 0 0 DNMT1 1786 broad.mit.edu 37 19 10250949 10250949 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10250949G>A ENST00000340748.4 - 32 3766 c.3531C>T c.(3529-3531)ttC>ttT p.F1177F DNMT1_ENST00000359526.4_Silent_p.F1193F|DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Silent_p.F1177F P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1177 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TGTTCAGCCGGAACGCCTGGG 0.612000 17 55 0 0 0.004990 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464123 5464123 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:5464123C>T ENST00000296564.7 + 13 4898 c.4676C>T c.(4675-4677)tCa>tTa p.S1559L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1559 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TCAAAGATTTCAAACAAAGAT 0.373000 8 55 0 0 0.003080 0 0 CNST 163882 broad.mit.edu 37 1 246811273 246811273 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:246811273G>A ENST00000366513.4 + 9 2039 c.1770G>A c.(1768-1770)gaG>gaA p.E590E CNST_ENST00000366512.3_Silent_p.E590E|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 590 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GTCTCCAGGAGAATCTGCCTT 0.403000 31 85 0 0 0.001786 0 0 CACNA1G 8913 broad.mit.edu 37 17 48669297 48669297 + Splice_Site SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:48669297G>T ENST00000352832.5 + 13 3126 c.e13-1 CACNA1G_ENST00000514717.1_Splice_Site|CACNA1G_ENST00000510366.1_Splice_Site|CACNA1G_ENST00000354983.4_Splice_Site|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000513689.2_Splice_Site|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000514079.1_Splice_Site|CACNA1G_ENST00000358244.5_Splice_Site|CACNA1G_ENST00000515411.1_Splice_Site|CACNA1G_ENST00000514181.1_Splice_Site|CACNA1G_ENST00000510115.1_Splice_Site|CACNA1G_ENST00000507609.1_Splice_Site|CACNA1G_ENST00000515165.1_Splice_Site|CACNA1G_ENST00000513964.1_Splice_Site|CACNA1G_ENST00000442258.2_Splice_Site|CACNA1G_ENST00000359106.5_Splice_Site|CACNA1G_ENST00000507896.1_Splice_Site|CACNA1G_ENST00000507510.2_Splice_Site|CACNA1G_ENST00000503485.1_Splice_Site|CACNA1G_ENST00000512389.1_Splice_Site|CACNA1G_ENST00000360761.4_Splice_Site|CACNA1G_ENST00000505165.1_Splice_Site|CACNA1G_ENST00000429973.2_Splice_Site|CACNA1G_ENST00000515765.1_Splice_Site|CACNA1G_ENST00000416767.4_Splice_Site NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCTGCCCGCAGATCCTGACCC 0.582000 15 12 6.31663e-08 8.5485e-08 0.003163 1 0 TYW5 129450 broad.mit.edu 37 2 200803731 200803731 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:200803731G>C ENST00000354611.4 - 5 676 c.411C>G c.(409-411)ttC>ttG p.F137L C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 137 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 CCTCTTTGAAGAATTCTGGAA 0.308000 5 36 0 0 0.000602 0 0 AKAP11 11215 broad.mit.edu 37 13 42874796 42874796 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:42874796A>G ENST00000025301.2 + 8 2089 c.1914A>G c.(1912-1914)atA>atG p.I638M NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 638 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAAGCAGATATTCACAAACA 0.398000 8 72 0 0 0.003080 0 0 SERPIND1 3053 broad.mit.edu 37 22 21138315 21138315 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:21138315G>A ENST00000215727.5 + 3 1228 c.945G>A c.(943-945)ctG>ctA p.L315L PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L315L|PI4KA_ENST00000255882.6_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 315 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) ACTTCCGGCTGAATGAGAGAG 0.493000 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 184 0 0 0.003610 0 0 ERC2 26059 broad.mit.edu 37 3 55733504 55733504 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:55733504C>T ENST00000288221.6 - 16 3004 c.2749G>A c.(2749-2751)Gat>Aat p.D917N NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 917 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) tggtCATCATCATAGTTGTCT 0.498000 121 193 0 0 0.003610 0 0 HELZ2 85441 broad.mit.edu 37 20 62198551 62198551 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62198551G>C ENST00000467148.1 - 6 2229 c.2160C>G c.(2158-2160)ctC>ctG p.L720L HELZ2_ENST00000427522.2_Silent_p.L151L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator AGCACAGGAAGAGGCGGTGCA 0.677000 12 49 0 0 0.001368 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47198344 47198344 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47198344G>C ENST00000524782.1 - 1 289 c.61C>G c.(61-63)Cca>Gca p.P21A ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.P21A|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 21 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TTGTTGGTTGGAACTGCGCGA 0.617000 8 44 0 0 0.004482 0 0 SCCPDH 51097 broad.mit.edu 37 1 246923504 246923504 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:246923504C>G ENST00000366510.3 + 9 1341 c.965C>G c.(964-966)tCa>tGa p.S322* NM_016002.2 NP_057086.2 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 322 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) GGCTATTTTTCAAAACAAGGC 0.299000 23 38 0 0 0.005443 0 0 VCAN 1462 broad.mit.edu 37 5 82850806 82850806 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:82850806C>T ENST00000265077.3 + 12 10249 c.9684C>T c.(9682-9684)ctC>ctT p.L3228L VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.L2241L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Silent_p.L487L|VCAN_ENST00000512590.2_Silent_p.L1426L|VCAN_ENST00000342785.4_Silent_p.L1474L|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3228 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGATAGGCCTCAATGACAAGA 0.403000 23 62 0 0 0.003330 0 0 GPHN 10243 broad.mit.edu 37 14 67291216 67291216 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:67291216G>A ENST00000478722.1 + 4 1347 c.226G>A c.(226-228)Gaa>Aaa p.E76K GPHN_ENST00000459628.1_Intron|GPHN_ENST00000543237.1_Missense_Mutation_p.E76K|GPHN_ENST00000315266.5_Missense_Mutation_p.E76K|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_3'UTR NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 76 MPT Mo-transferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTGGTGTGATGAAAAGGAACT 0.398000 T MLL AL 11 35 0 0 0.001368 0 0 MAMDC2 256691 broad.mit.edu 37 9 72840940 72840940 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:72840940G>C ENST00000377182.4 + 14 2670 c.2053G>C c.(2053-2055)Gag>Cag p.E685Q SMC5-AS1_ENST00000594708.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 685 endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 AAATGAAATTGAGTATTAAGA 0.303000 7 16 0 0 0.004482 0 0 UCP3 7352 broad.mit.edu 37 11 73718076 73718076 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73718076C>T ENST00000314032.4 - 2 564 c.12G>A c.(10-12)ctG>ctA p.L4L UCP3_ENST00000348534.4_Silent_p.L4L|UCP3_ENST00000426995.2_Silent_p.L4L NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 4 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) CTGAAGGCTTCAGTCCAACCA 0.602000 9 31 0 0 0.000978 0 0 GCDH 2639 broad.mit.edu 37 19 13007200 13007200 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:13007200G>C ENST00000222214.5 + 8 1028 c.817G>C c.(817-819)Gag>Cag p.E273Q GCDH_ENST00000591470.1_Missense_Mutation_p.E273Q|GCDH_ENST00000422947.2_Missense_Mutation_p.E229Q|GCDH_ENST00000457854.1_Missense_Mutation_p.E273Q Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 273 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 GGAGGTGCCAGAGGAGAATGT 0.632000 5 35 0 0 0.001984 0 0 MTFP1 51537 broad.mit.edu 37 22 30824562 30824562 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:30824562C>T ENST00000355143.4 + 3 413 c.309C>T c.(307-309)ttC>ttT p.F103F RP4-539M6.19_ENST00000439838.1_3'UTR|MTFP1_ENST00000407550.3_3'UTR|MTFP1_ENST00000266263.5_3'UTR NM_001003704.2 NP_001003704.1 mitochondrial fission process 1 endometrium(1)|large_intestine(1)|lung(2) 4 CCTCCTGCTTCATGTCAACCT 0.592000 23 112 0 0 0.002780 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144194515 144194515 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:144194515G>C ENST00000295095.6 + 8 774 c.607G>C c.(607-609)Gaa>Caa p.E203Q AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 203 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AAGAAACCTGGAATTATTCAA 0.338000 11 38 0 0 0.001368 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138447178 138447178 + Splice_Site SNP G G A rs144802156 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:138447178G>A ENST00000310018.2 - 7 701 c.419C>T c.(418-420)aCg>aTg p.T140M ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Splice_Site_p.T140M|ATP6V0A4_ENST00000353492.4_Splice_Site_p.T140M NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 140 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ATTGGTTTCCGTCTGAAAGTC 0.393000 15 43 0 0 0.003163 0 0 NRXN2 9379 broad.mit.edu 37 11 64410027 64410027 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64410027G>A ENST00000301894.2 - 1 760 c.249C>T c.(247-249)ctC>ctT p.L83L NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000409571.1_Intron NM_138734.2 NP_620063.1 Q9P2S2 NRX2A_HUMAN neurexin 2 0 Laminin G-like 1. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGCCGCGGGTGAGGAAGGGCA 0.731000 7 18 0 0 0.003080 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160244633 160244633 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:160244633T>G ENST00000264431.4 + 5 949 c.530T>G c.(529-531)cTc>cGc p.L177R NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 177 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TCAGTGATTCTCAATGGATCT 0.398000 22 46 0 0 0.003330 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301959 110301959 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:110301959C>T ENST00000369805.3 - 5 535 c.306G>A c.(304-306)gcG>gcA p.A102A EPS8L3_ENST00000361965.4_Silent_p.A102A|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.A102A|EPS8L3_ENST00000494151.1_5'UTR NM_139053.2 NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 102 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) ATGTGTTGAGCGCCACATTCA 0.607000 68 144 0 0 0.003610 0 0 SVOP 55530 broad.mit.edu 37 12 109309593 109309593 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:109309593C>G ENST00000299134.5 - 13 1209 c.1210G>C c.(1210-1212)Gag>Cag p.E404Q NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 AGCACCCACTCTTGCCATGCC 0.612000 4 11 0 0 0.001168 0 0 PVRL4 81607 broad.mit.edu 37 1 161046192 161046192 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:161046192G>C ENST00000368012.3 - 4 1106 c.804C>G c.(802-804)ctC>ctG p.L268L PVRL4_ENST00000453926.2_Silent_p.L2L NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 268 Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TCAGGCACTTGAGCATAGCTC 0.562000 9 49 0 0 0.004482 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36431360 36431360 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:36431360G>C ENST00000405275.2 + 12 1285 c.1042G>C c.(1042-1044)Gac>Cac p.D348H CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D188H|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D123H|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D375H|CTNNBL1_ENST00000473857.1_3'UTR NM_001281495.1 NP_001268424.1 Q8WYA6 CTBL1_HUMAN catenin, beta like 1 375 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TAAGTTTGTTGACATTCTTGG 0.483000 25 81 0 0 0.003954 0 0 SZT2 23334 broad.mit.edu 37 1 43889974 43889974 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43889974C>G ENST00000562955.1 + 16 2342 c.2342C>G c.(2341-2343)tCa>tGa p.S781* SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 781 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCAGGCCGCTCAGCCTCTTCT 0.617000 14 69 0 0 0.001855 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551908 58551908 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58551908C>T ENST00000282326.1 + 4 708 c.461C>T c.(460-462)tCg>tTg p.S154L NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 154 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AAAGAACCATCGCAGGTGAGC 0.627000 9 172 0 0 0.006214 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37151043 37151043 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:37151043G>A ENST00000421307.1 - 12 1006 c.584C>T c.(583-585)tCt>tTt p.S195F LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S195F|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 195 DVL3-binding.|Ser-rich. Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CAGCAGACCAGAATTTGCAGT 0.438000 48 75 0 0 0.003610 0 0 HSPA9 3313 broad.mit.edu 37 5 137902369 137902369 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:137902369C>G ENST00000297185.3 - 9 1043 c.918G>C c.(916-918)caG>caC p.Q306H HSPA9_ENST00000501917.2_5'UTR NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 306 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCCGTACCCTCTGAAGTGCCA 0.438000 22 185 0 0 0.004656 0 0 COL12A1 1303 broad.mit.edu 37 6 75831126 75831126 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:75831126G>C ENST00000322507.8 - 44 7287 c.6978C>G c.(6976-6978)ttC>ttG p.F2326L COL12A1_ENST00000483888.2_Missense_Mutation_p.F2326L|COL12A1_ENST00000416123.2_Missense_Mutation_p.F2326L|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1162L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2326 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CATCAGTCAAGAACACAATAT 0.388000 25 79 0 0 0.006320 0 0 SIX1 6495 broad.mit.edu 37 14 61115580 61115580 + Missense_Mutation SNP G G A rs80356459 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:61115580G>A ENST00000247182.6 - 1 600 c.328C>T c.(328-330)Cgg>Tgg p.R110W SIX1_ENST00000554986.1_Intron NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 110 R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction). branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R110G(1)|p.R110R(1) breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CGGCGCACCCGATATTTGCCC 0.632000 43 76 0 0 0.007835 0 0 PROCR 10544 broad.mit.edu 37 20 33762609 33762609 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33762609G>A ENST00000216968.4 + 2 257 c.175G>A c.(175-177)Gaa>Aaa p.E59K EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 59 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GCACGTGCTGGAAGGCCCAGA 0.617000 27 75 0 0 0.005443 0 0 MMP9 4318 broad.mit.edu 37 20 44642135 44642135 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:44642135C>A ENST00000372330.3 + 9 1591 c.1572C>A c.(1570-1572)atC>atA p.I524I NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 524 Hemopexin-like 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TCGACGCCATCGCGGAGATTG 0.627000 OREG0025990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 19 4.3838e-07 5.89834e-07 0.001855 1 0 HERC2 8924 broad.mit.edu 37 15 28437183 28437183 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:28437183G>A ENST00000261609.7 - 53 8483 c.8375C>T c.(8374-8376)tCg>tTg p.S2792L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2792 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACGGAGGACGACACATTCAG 0.587000 OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 166 0 0 0.003610 0 0 SYTL3 94120 broad.mit.edu 37 6 159181754 159181754 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:159181754G>A ENST00000297239.9 + 14 1585 c.1391G>A c.(1390-1392)aGa>aAa p.R464K SYTL3_ENST00000367081.3_Missense_Mutation_p.R190K|SYTL3_ENST00000360448.3_Missense_Mutation_p.R396K Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 464 intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCACGGCCCAGAAAACTCCAA 0.567000 17 41 0 0 0.006122 0 0 UBA52 7311 broad.mit.edu 37 19 18684102 18684102 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:18684102G>A ENST00000442744.2 + 2 50 c.e2-1 UBA52_ENST00000595683.1_Splice_Site|UBA52_ENST00000596304.1_Splice_Site|UBA52_ENST00000595158.1_Splice_Site|UBA52_ENST00000430157.2_Splice_Site|UBA52_ENST00000599595.1_5'UTR|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000597451.1_5'UTR|UBA52_ENST00000596273.1_Splice_Site|UBA52_ENST00000599551.1_Splice_Site|UBA52_ENST00000598780.1_Splice_Site NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 TCCTCCTGCAGACGCAAACAT 0.517000 6 28 0 0 0.001984 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182921966 182921966 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:182921966C>G ENST00000367547.3 - 1 539 c.303G>C c.(301-303)gaG>gaC p.E101D SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 173 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 GCTGCGCCTCCTCTTCATCCT 0.701000 9 22 0 0 0.000978 0 0 DAAM1 23002 broad.mit.edu 37 14 59819345 59819345 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:59819345G>A ENST00000395125.1 + 18 2315 c.2292G>A c.(2290-2292)atG>atA p.M764I DAAM1_ENST00000360909.3_Missense_Mutation_p.M754I|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.M764I NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 764 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTTTTGAGATGAGCCGGTGAG 0.398000 4 14 0 0 0.000248 0 0 CLSPN 63967 broad.mit.edu 37 1 36202663 36202663 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:36202663G>C ENST00000251195.5 - 24 3857 c.3761C>G c.(3760-3762)tCa>tGa p.S1254* CLSPN_ENST00000318121.3_Nonsense_Mutation_p.S1254*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.S1190*|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.S1201* Q9HAW4 CLSPN_HUMAN claspin 1254 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTTAGCAGTGAGCCTGTCTT 0.463000 21 107 0 0 0.001523 0 0 METTL2B 55798 broad.mit.edu 37 7 128119545 128119545 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:128119545C>T ENST00000480046.1 + 2 456 c.341C>T c.(340-342)tCa>tTa p.S114L METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.S179L Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 179 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CCTGGATCCTCAGCCACCTAC 0.428000 22 81 0 0 0.002780 0 0 GATA6 2627 broad.mit.edu 37 18 19780746 19780746 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:19780746C>A ENST00000269216.3 + 7 2025 c.1748C>A c.(1747-1749)tCc>tAc p.S583Y RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Missense_Mutation_p.S583Y NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 583 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GTCACGTCCTCCGTGCGACCG 0.672000 27 253 2.79863e-10 3.85168e-10 0.004656 1 0 ABCA13 154664 broad.mit.edu 37 7 48319282 48319282 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:48319282C>T ENST00000435803.1 + 18 8515 c.8491C>T c.(8491-8493)Ctg>Ttg p.L2831L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2831 L -> R (in Ref. 1; AAP13576). transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GAAAGGACTTCTGTTTAACAA 0.348000 48 116 0 0 0.003610 0 0 PTK2 5747 broad.mit.edu 37 8 141754781 141754781 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:141754781G>A ENST00000522684.1 - 19 1833 c.1604C>T c.(1603-1605)gCa>gTa p.A535V PTK2_ENST00000340930.3_Missense_Mutation_p.A535V|PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000535192.1_Missense_Mutation_p.A535V|PTK2_ENST00000395218.2_Missense_Mutation_p.A535V|PTK2_ENST00000521059.1_Missense_Mutation_p.A535V|PTK2_ENST00000519465.1_Missense_Mutation_p.A163V|PTK2_ENST00000517887.1_Missense_Mutation_p.A579V|PTK2_ENST00000519419.1_Missense_Mutation_p.A579V|PTK2_ENST00000538769.1_Missense_Mutation_p.A203V NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 535 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) CTCTAGATATGCAAGAGCTGT 0.383000 30 110 0 0 0.003271 0 0 GON4L 54856 broad.mit.edu 37 1 155796774 155796774 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:155796774G>A ENST00000437809.1 - 3 673 c.551C>T c.(550-552)tCa>tTa p.S184L GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S184L|GON4L_ENST00000271883.5_Missense_Mutation_p.S184L|GON4L_ENST00000368331.1_Missense_Mutation_p.S184L NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 184 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTGGCTGCCTGATGGCAGGGA 0.473000 13 72 0 0 0.001855 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769071 140769071 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140769071C>G ENST00000519479.1 + 1 1620 c.1620C>G c.(1618-1620)ctC>ctG p.L540L PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCAGCGCTCAGCGCGAACG 0.701000 7 50 0 0 0.001984 0 0 SV2C 22987 broad.mit.edu 37 5 75621207 75621207 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:75621207C>G ENST00000502798.2 + 13 2461 c.2019C>G c.(2017-2019)ttC>ttG p.F673L SV2C_ENST00000322285.7_Intron NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 673 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCTTTGGCTTCTTAAATGCGC 0.463000 26 71 0 0 0.006320 0 0 CACNA1C 775 broad.mit.edu 37 12 2690861 2690861 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:2690861C>A ENST00000399655.1 + 14 2266 c.2001C>A c.(1999-2001)ctC>ctA p.L667L CACNA1C_ENST00000399649.1_Silent_p.L667L|CACNA1C_ENST00000399595.1_Silent_p.L667L|CACNA1C_ENST00000399603.1_Silent_p.L667L|CACNA1C_ENST00000399644.1_Silent_p.L667L|CACNA1C_ENST00000399617.1_Silent_p.L667L|CACNA1C_ENST00000327702.7_Silent_p.L667L|CACNA1C_ENST00000347598.4_Silent_p.L667L|CACNA1C_ENST00000399629.1_Silent_p.L667L|CACNA1C_ENST00000402845.3_Silent_p.L667L|CACNA1C_ENST00000399606.1_Silent_p.L667L|CACNA1C_ENST00000399601.1_Silent_p.L667L|CACNA1C_ENST00000344100.3_Silent_p.L667L|CACNA1C_ENST00000399637.1_Silent_p.L667L|CACNA1C_ENST00000335762.5_Silent_p.L692L|CACNA1C_ENST00000399641.1_Silent_p.L667L|CACNA1C_ENST00000399634.1_Silent_p.L667L|CACNA1C_ENST00000399638.1_Silent_p.L667L|CACNA1C_ENST00000399621.1_Silent_p.L667L|CACNA1C_ENST00000399591.1_Silent_p.L667L|CACNA1C_ENST00000406454.3_Silent_p.L667L|CACNA1C_ENST00000399597.1_Silent_p.L667L|CACNA1C_ENST00000480911.1_Silent_p.L667L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 667 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) tcttctccctcctGGGGATGC 0.537000 12 86 5.50884e-06 7.38757e-06 0.001368 1 0 DHX29 54505 broad.mit.edu 37 5 54567922 54567922 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54567922C>G ENST00000251636.5 - 18 3005 c.2857G>C c.(2857-2859)Gaa>Caa p.E953Q RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 953 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TACTTATTTTCTTTTGTTCTT 0.318000 45 31 0 0 0.002522 0 0 MALAT1 378938 broad.mit.edu 37 11 65268496 65268496 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65268496G>A ENST00000534336.1 + 0 3264 NR_002819.2 TTTTTTACACGAATTTGAGGA 0.363000 22 80 0 0 0.003954 0 0 C7orf25 79020 broad.mit.edu 37 7 42949965 42949965 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:42949965C>G ENST00000350427.4 - 2 810 c.535G>C c.(535-537)Gag>Cag p.E179Q PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.E237Q|C7orf25_ENST00000438029.1_Missense_Mutation_p.E179Q|C7orf25_ENST00000447342.1_Missense_Mutation_p.E179Q Q9BPX7 CG025_HUMAN chromosome 7 open reading frame 25 179 endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 TTCAGCTTCTCTGCCATGGGG 0.493000 13 88 0 0 0.001368 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1810466 1810466 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:1810466G>C ENST00000250894.4 + 12 1544 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E457Q NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 463 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GGGCGAGTTGGAGGCTGCTAA 0.537000 37 89 0 0 0.005524 0 0 C3P1 388503 broad.mit.edu 37 19 10163020 10163020 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10163020G>C ENST00000495140.1 + 0 1454 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 CATCGTCCTGGAACCCCAAGG 0.517000 14 50 0 0 0.003163 0 0 EEA1 8411 broad.mit.edu 37 12 93172980 93172980 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:93172980C>G ENST00000322349.8 - 25 3829 c.3565G>C c.(3565-3567)Gag>Cag p.E1189Q NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 1189 Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TTTCTCTTCTCCTGTTCAACA 0.388000 34 100 0 0 0.002445 0 0 SCN10A 6336 broad.mit.edu 37 3 38739903 38739903 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:38739903G>T ENST00000449082.2 - 27 4807 c.4808C>A c.(4807-4809)tCc>tAc p.S1603Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1603 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGCAGGCAGGGACATCATGAG 0.562000 27 124 5.61819e-17 7.88586e-17 0.005443 1 0 RTN4R 65078 broad.mit.edu 37 22 20229926 20229926 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:20229926C>T ENST00000043402.7 - 2 1168 c.730G>A c.(730-732)Gag>Aag p.E244K NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 244 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GCCAGGGCCTCAGTGGGCAGC 0.642000 19 32 0 0 0.008871 0 0 ASH1L 55870 broad.mit.edu 37 1 155313492 155313492 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:155313492C>T ENST00000368346.3 - 23 8677 c.8038G>A c.(8038-8040)Gat>Aat p.D2680N ASH1L_ENST00000392403.3_Missense_Mutation_p.D2675N Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2680 BAH. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGGTGGCCATCAGGGGTGCGC 0.438000 7 64 0 0 0.001984 0 0 PNPO 55163 broad.mit.edu 37 17 46023278 46023278 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:46023278T>C ENST00000225573.4 + 5 574 c.469T>C c.(469-471)Tac>Cac p.Y157H PNPO_ENST00000544840.1_Missense_Mutation_p.Y139H|PNPO_ENST00000434554.2_Intron|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000534893.1_Missense_Mutation_p.Y62H NM_018129.3 NP_060599.1 Q9NVS9 PNPO_HUMAN pyridoxamine 5'-phosphate oxidase 157 pyridoxine biosynthetic process cytosol FMN binding|pyridoxamine-phosphate oxidase activity endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1) 5 Pyridoxal Phosphate(DB00114) GGCTGAGTGCTACTTCCACTC 0.597000 19 42 0 0 0.006122 0 0 STX17 55014 broad.mit.edu 37 9 102722413 102722413 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:102722413C>T ENST00000259400.6 + 6 694 c.558C>T c.(556-558)gtC>gtT p.V186V STX17_ENST00000525640.1_Silent_p.V186V|STX17_ENST00000534052.1_Silent_p.V186V|STX17_ENST00000525847.1_3'UTR NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 186 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCCAACTGGTCACTGACTTCT 0.333000 29 71 0 0 0.002445 0 0 ALK 238 broad.mit.edu 37 2 29519819 29519819 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:29519819G>A ENST00000389048.3 - 9 2658 c.1752C>T c.(1750-1752)gtC>gtT p.V584V ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 584 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.V584V(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATAGGCGGCGACATGCCAGA 0.557000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 12 38 0 0 0.001368 0 0 CYP51A1 1595 broad.mit.edu 37 7 91761093 91761093 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:91761093C>T ENST00000003100.8 - 2 451 c.286G>A c.(286-288)Gag>Aag p.E96K LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 90 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTTACCTTCTCATATGCATTT 0.318000 10 29 0 0 0.008291 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224931 20224931 + RNA SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:20224931T>C ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA p.V101A(1) CACGTCTTGGTTCCTGGAGAC 0.642000 6 355 0 0 0.000978 0 0 CDH10 1008 broad.mit.edu 37 5 24505321 24505321 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:24505321G>C ENST00000264463.4 - 8 1800 c.1293C>G c.(1291-1293)atC>atG p.I431M NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 431 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GAATGTTAAAGATTCTGTCAA 0.363000 HNSCC(23;0.051) 10 34 0 0 0.006214 0 0 FMO1 2326 broad.mit.edu 37 1 171251468 171251468 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:171251468G>C ENST00000354841.4 + 6 1310 c.1179G>C c.(1177-1179)ctG>ctC p.L393L FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.L330L|FMO1_ENST00000367750.3_Silent_p.L393L NM_001282692.1 NP_001269621.1 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 393 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding 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) TTCGAGTCCTGAAAGGTAAGT 0.448000 7 51 0 0 0.001984 0 0 PROCR 10544 broad.mit.edu 37 20 33762683 33762683 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33762683G>C ENST00000216968.4 + 2 331 c.249G>C c.(247-249)caG>caC p.Q83H EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 83 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) CGCGCACGCAGAGTGGCCTGC 0.682000 9 14 0 0 0.004482 0 0 UBR1 197131 broad.mit.edu 37 15 43281096 43281096 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:43281096C>G ENST00000290650.4 - 35 3996 c.3918G>C c.(3916-3918)ttG>ttC p.L1306F UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1306 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GTGGCACTTTCAATCCAATTC 0.373000 38 105 0 0 0.003755 0 0 POU2F3 25833 broad.mit.edu 37 11 120169015 120169015 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:120169015C>T ENST00000260264.4 + 4 214 c.180C>T c.(178-180)ctC>ctT p.L60L POU2F3_ENST00000543440.2_Silent_p.L58L NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 58 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) AGCAGACCCTCTCCCATCGGC 0.532000 43 227 0 0 0.002522 0 0 COL23A1 91522 broad.mit.edu 37 5 177690292 177690292 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:177690292G>C ENST00000390654.3 - 9 913 c.556C>G c.(556-558)Ccg>Gcg p.P186A COL23A1_ENST00000407622.1_Missense_Mutation_p.P150A NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 186 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) GGGGGCCCCGGAGGCCCAGCA 0.672000 11 21 0 0 0.001855 0 0 RYR1 6261 broad.mit.edu 37 19 39017663 39017663 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39017663C>G ENST00000355481.4 + 71 10773 c.10642C>G c.(10642-10644)Ctg>Gtg p.L3548V RYR1_ENST00000359596.3_Missense_Mutation_p.L3553V|RYR1_ENST00000360985.3_Missense_Mutation_p.L3553V|AC067969.1_ENST00000597015.1_RNA NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3553 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCGGGAATTTCTGCACAACAA 0.507000 11 88 0 0 0.000978 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058710 152058710 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:152058710C>T ENST00000368806.1 - 3 1512 c.1448G>A c.(1447-1449)aGc>aAc p.S483N NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 483 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGCGTTTTTGCTGTTCACAAA 0.483000 98 225 0 0 0.003610 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94655506 94655506 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:94655506G>A ENST00000260526.6 - 13 1597 c.1415C>T c.(1414-1416)tCa>tTa p.S472L ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 472 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.S472L(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCTTCAGTTGAATTTGTGGC 0.368000 12 60 0 0 0.000978 0 0 ZNF556 80032 broad.mit.edu 37 19 2873567 2873567 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:2873567G>C ENST00000586426.1 + 2 164 c.77G>C c.(76-78)aGa>aCa p.R26T ZNF556_ENST00000307635.2_Missense_Mutation_p.R26T Q9HAH1 ZN556_HUMAN zinc finger protein 556 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCTCAGAGAAAACTCTAC 0.438000 30 93 0 0 0.008361 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45671765 45671765 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:45671765G>T ENST00000359600.5 - 1 463 c.258C>A c.(256-258)ttC>ttA p.F86L ZSWIM5_ENST00000464588.1_Intron NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 86 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GGATCCGCTCGAAGCGCTCCT 0.667000 10 24 5.16669e-11 7.1471e-11 0.000978 1 0 STAM2 10254 broad.mit.edu 37 2 153006744 153006744 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:153006744C>T ENST00000263904.4 - 2 390 c.e2-1 NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) GTGGCTTTTTCTATAAAATAT 0.353000 4 29 0 0 0.000602 0 0 UQCC1 55245 broad.mit.edu 37 20 33891806 33891806 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33891806G>A ENST00000374385.5 - 10 1009 c.832C>T c.(832-834)Cta>Tta p.L278L UQCC1_ENST00000397556.3_Silent_p.L179L|UQCC1_ENST00000349714.5_Silent_p.L251L|UQCC1_ENST00000407996.2_Silent_p.L141L|UQCC1_ENST00000374377.5_Silent_p.L166L|UQCC1_ENST00000374384.2_Silent_p.L252L|UQCC1_ENST00000359226.2_Silent_p.L198L|UQCC1_ENST00000374380.2_Silent_p.L210L|UQCC1_ENST00000540457.1_Silent_p.L123L NM_018244.4 NP_060714.3 ubiquinol-cytochrome c reductase complex assembly factor 1 278 TTCTCCACTAGAGGGCGCCAG 0.607000 OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 96 0 0 0.003610 0 0 QSER1 79832 broad.mit.edu 37 11 32955538 32955538 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:32955538C>T ENST00000399302.2 + 4 2682 c.2347C>T c.(2347-2349)Cag>Tag p.Q783* QSER1_ENST00000527788.1_Nonsense_Mutation_p.Q544* NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 783 Gln-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TGATCATTCTCAGCAGCAACT 0.403000 16 104 0 0 0.004007 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146088 10146088 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:10146088G>A ENST00000450660.2 - 2 587 c.371C>T c.(370-372)tCa>tTa p.S124L FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S124L NM_001164839.1 NP_001158311.1 FANCD2 opposite strand GCAAAAGGCTGACTTGTCTGA 0.522000 23 173 0 0 0.002780 0 0 ZNF812 729648 broad.mit.edu 37 19 9801233 9801233 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9801233G>A ENST00000457674.2 - 5 1464 c.946C>T c.(946-948)Cag>Tag p.Q316* ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCCGTGTACTGAGTGAAGGCT 0.443000 26 79 0 0 0.003954 0 0 NOX5 79400 broad.mit.edu 37 15 69325600 69325600 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:69325600G>C ENST00000260364.5 + 6 1085 c.784G>C c.(784-786)Gac>Cac p.D262H NOX5_ENST00000448182.3_Missense_Mutation_p.D234H|NOX5_ENST00000388866.3_Missense_Mutation_p.D280H|NOX5_ENST00000455873.3_Missense_Mutation_p.D245H|NOX5_ENST00000530406.2_Missense_Mutation_p.D252H Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 280 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CCTCAACTTCGACTGCAGCTT 0.647000 10 40 0 0 0.000978 0 0 OR2T12 127064 broad.mit.edu 37 1 248458107 248458107 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:248458107C>T ENST00000317996.1 - 1 773 c.774G>A c.(772-774)atG>atA p.M258I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTGGGTCTCATATAGGTAA 0.483000 27 126 0 0 0.003954 0 0 ADCY10 55811 broad.mit.edu 37 1 167871010 167871010 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:167871010C>T ENST00000367848.1 - 5 547 c.50G>A c.(49-51)cGa>cAa p.R17Q ADCY10_ENST00000367851.4_Missense_Mutation_p.R109Q|ADCY10_ENST00000545172.1_Intron Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 109 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CAGCTGCTTTCGCTCCACCCT 0.493000 26 140 0 0 0.004656 0 0 ZNF687 57592 broad.mit.edu 37 1 151262635 151262635 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262635C>T ENST00000368879.2 + 7 3100 c.3002C>T c.(3001-3003)tCc>tTc p.S1001F NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1001 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGTGAGCGCTCCTTCTGCTCC 0.597000 13 95 0 0 0.003271 0 0 MYCN 4613 broad.mit.edu 37 2 16082244 16082244 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:16082244G>C ENST00000281043.3 + 2 355 c.58G>C c.(58-60)Gag>Cag p.E20Q MYCNOS_ENST00000448719.1_RNA NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 20 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCCAGACCTCGAGTTTGACTC 0.642000 A neuroblastoma 5 41 0 0 0.000602 0 0 FBXO34 55030 broad.mit.edu 37 14 55817474 55817474 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:55817474C>G ENST00000313833.4 + 2 611 c.366C>G c.(364-366)ttC>ttG p.F122L FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.F122L NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 122 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 AAATTGCATTCTTTGCATCCC 0.428000 23 34 0 0 0.002299 0 0 SRD5A3 79644 broad.mit.edu 37 4 56236183 56236183 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:56236183C>T ENST00000264228.4 + 5 1110 c.882C>T c.(880-882)ctC>ctT p.L294L SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 294 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CTGCCTTTCTCAGCCACCAAT 0.423000 26 86 0 0 0.004656 0 0 CARF 79800 broad.mit.edu 37 2 203842024 203842024 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:203842024C>G ENST00000402905.3 + 13 1848 c.1527C>G c.(1525-1527)ctC>ctG p.L509L CARF_ENST00000320443.8_Silent_p.L509L|CARF_ENST00000414439.1_Silent_p.L407L|CARF_ENST00000545262.1_Silent_p.L433L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Silent_p.L433L|CARF_ENST00000438828.2_Silent_p.L509L|CARF_ENST00000545253.1_Silent_p.L421L NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor GGAATATTCTCAAAGAGACCA 0.303000 26 118 0 0 0.005443 0 0 CDHR5 53841 broad.mit.edu 37 11 618014 618014 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:618014G>A ENST00000358353.3 - 15 2380 c.2058C>T c.(2056-2058)ctC>ctT p.L686L CDHR5_ENST00000397542.2_Silent_p.L686L|CDHR5_ENST00000349570.7_Silent_p.L492L Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 686 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CAAGGACGGCGAGGCCAAGGA 0.682000 7 27 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9090786 9090786 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9090786G>C ENST00000397910.4 - 1 1232 c.1029C>G c.(1027-1029)gtC>gtG p.V343V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 343 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTGCTTCTGACCCTTTCGG 0.507000 16 51 0 0 0.003163 0 0 ZNF91 7644 broad.mit.edu 37 19 23578152 23578152 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:23578152G>A ENST00000300619.7 - 1 210 c.5C>T c.(4-6)cCa>cTa p.P2L ZNF91_ENST00000397082.2_Missense_Mutation_p.P2L|ZNF91_ENST00000599743.1_Missense_Mutation_p.P2L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 2 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGGGGTTCCTGGCATCTTAGC 0.612000 21 78 0 0 0.004656 0 0 DCTN1 1639 broad.mit.edu 37 2 74598163 74598163 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:74598163C>G ENST00000361874.3 - 9 1103 c.786G>C c.(784-786)aaG>aaC p.K262N DCTN1_ENST00000407639.2_Missense_Mutation_p.K128N|DCTN1_ENST00000394003.3_Missense_Mutation_p.K255N|DCTN1_ENST00000409438.1_Missense_Mutation_p.K128N|DCTN1_ENST00000409868.1_Missense_Mutation_p.K245N|DCTN1_ENST00000409567.3_Missense_Mutation_p.K242N|DCTN1_ENST00000409240.1_Missense_Mutation_p.K225N NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 262 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GCATTTTGCTCTTCCATTCCT 0.552000 59 373 0 0 0.003610 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73339600 73339600 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:73339600G>A ENST00000258098.6 - 1 546 c.306C>T c.(304-306)tcC>tcT p.S102S NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 102 C2. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 AGGCGGCGGCGGAGCTCGCGG 0.751000 6 14 0 0 0.001984 0 0 PHF1 5252 broad.mit.edu 37 6 33383743 33383743 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33383743G>A ENST00000374516.3 + 15 1843 c.1572G>A c.(1570-1572)ggG>ggA p.G524G PHF1_ENST00000374512.3_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 524 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) TGTCTCCTGGGACTGGGGGAG 0.612000 36 101 0 0 0.003755 0 0 CNNM2 54805 broad.mit.edu 37 10 104816644 104816644 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:104816644G>A ENST00000369878.4 + 4 2184 c.1996G>A c.(1996-1998)Gag>Aag p.E666K CNNM2_ENST00000433628.2_Missense_Mutation_p.E666K NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GAAATATGATGAGAAGAACAA 0.433000 35 98 0 0 0.005524 0 0 ACBD6 84320 broad.mit.edu 37 1 180283851 180283851 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:180283851C>G ENST00000367595.3 - 7 1357 c.670G>C c.(670-672)Gaa>Caa p.E224Q ACBD6_ENST00000475338.2_5'UTR NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 224 cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 GTTTGGCCTTCATTGTCCTAT 0.264000 11 77 0 0 0.000978 0 0 CCDC88C 440193 broad.mit.edu 37 14 91744440 91744440 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:91744440G>A ENST00000389857.6 - 29 4970 c.4884C>T c.(4882-4884)ctC>ctT p.L1628L CCDC88C_ENST00000331194.7_Silent_p.L152L NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1628 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CGTGGCGGCCGAGGGCGTTGC 0.687000 8 17 0 0 0.006214 0 0 ANO2 57101 broad.mit.edu 37 12 5708682 5708682 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:5708682T>C ENST00000546188.1 - 21 2275 c.2204A>G c.(2203-2205)tAc>tGc p.Y735C ANO2_ENST00000356134.5_Missense_Mutation_p.Y735C|ANO2_ENST00000327087.8_Missense_Mutation_p.Y734C Q9NQ90 ANO2_HUMAN anoctamin 2 739 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CAGTCCTGTGTATGGTTCCAA 0.527000 5 248 0 0 0.001168 0 0 PKD2 5311 broad.mit.edu 37 4 88996667 88996667 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:88996667C>A ENST00000237596.2 + 15 2794 c.2728C>A c.(2728-2730)Cgt>Agt p.R910S PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.R328S|PKD2_ENST00000502363.1_Missense_Mutation_p.R328S NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 910 C-terminal coiled coil domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACGGCTAGTACGTGAAGAGTT 0.507000 33 256 2.61193e-14 3.64101e-14 0.001786 1 0 TTN 7273 broad.mit.edu 37 2 179611886 179611886 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:179611886G>C ENST00000360870.5 - 46 15463 c.15241C>G c.(15241-15243)Cta>Gta p.L5081V TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1188 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATCTCTCTAGAGTCTCTCCT 0.552000 30 69 0 0 0.008361 0 0 SPSB4 92369 broad.mit.edu 37 3 140785627 140785627 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:140785627C>G ENST00000310546.2 + 2 1425 c.681C>G c.(679-681)atC>atG p.I227M NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 227 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 TGCGCTACATCAACGGCCTTG 0.637000 14 37 0 0 0.008871 0 0 SKA1 220134 broad.mit.edu 37 18 47918545 47918545 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:47918545G>A ENST00000285116.3 + 7 907 c.696G>A c.(694-696)ctG>ctA p.L232L SKA1_ENST00000488454.1_Silent_p.L81L|SKA1_ENST00000398452.2_Silent_p.L232L|SKA1_ENST00000417656.2_Silent_p.L186L NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 232 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 ACGTGTTACTGAATATTTTAC 0.393000 33 82 0 0 0.003271 0 0 PPP1CB 5500 broad.mit.edu 37 2 29016810 29016810 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:29016810G>C ENST00000395366.2 + 7 1098 c.826G>C c.(826-828)Gat>Cat p.D276H PPP1CB_ENST00000296122.6_Missense_Mutation_p.D276H|PPP1CB_ENST00000358506.2_Missense_Mutation_p.D276H|SPDYA_ENST00000462832.1_3'UTR NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 276 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) TGGCGAGTTTGATAATGCTGG 0.348000 25 53 0 0 0.003330 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39483104 39483104 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:39483104G>T ENST00000407997.3 + 7 1470 c.1113G>T c.(1111-1113)ctG>ctT p.L371L APOBEC3G_ENST00000452957.2_Silent_p.L371L NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) GCCAAGACCTGAGTGGGAGGC 0.622000 27 70 6.07407e-21 8.57765e-21 0.007291 1 0 ZNF812 729648 broad.mit.edu 37 19 9801284 9801284 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9801284G>A ENST00000457674.2 - 5 1413 c.895C>T c.(895-897)Cac>Tac p.H299Y ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTCCAGTGTGAGTTCTTACA 0.413000 30 85 0 0 0.006320 0 0 CLNK 116449 broad.mit.edu 37 4 10566338 10566338 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:10566338G>A ENST00000226951.6 - 7 595 c.356C>T c.(355-357)tCc>tTc p.S119F CLNK_ENST00000442825.2_Missense_Mutation_p.S77F|CLNK_ENST00000507719.1_Missense_Mutation_p.S77F NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 119 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity p.S119C(2) NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 CTGTCCAATGGAGATAGAGGT 0.453000 37 42 0 0 0.002852 0 0 DMXL2 23312 broad.mit.edu 37 15 51772972 51772972 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51772972C>G ENST00000251076.5 - 24 6618 c.6331G>C c.(6331-6333)Gat>Cat p.D2111H RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1475H|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2111H NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2111 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTTCCTGATCCAGCAGATCA 0.393000 22 125 0 0 0.003330 0 0 CREBBP 1387 broad.mit.edu 37 16 3823904 3823904 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:3823904G>A ENST00000262367.5 - 13 3120 c.2311C>T c.(2311-2313)Cag>Tag p.Q771* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q733* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 771 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTCGGAGGCTGAGGCATTCGG 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 17 134 0 0 0.001882 0 0 ACACA 31 broad.mit.edu 37 17 35631157 35631157 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:35631157G>C ENST00000353139.5 - 9 1416 c.935C>G c.(934-936)tCa>tGa p.S312* ACACA_ENST00000360679.3_Nonsense_Mutation_p.S217*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.S275*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.S197* NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 275 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GATACGTTTTGAAAAATCATT 0.413000 17 61 0 0 0.008871 0 0 KIAA1244 57221 broad.mit.edu 37 6 138612877 138612877 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:138612877G>C ENST00000251691.4 + 19 3221 c.3055G>C c.(3055-3057)Gaa>Caa p.E1019Q NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1019 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TAGGGTGTGTGAATACGTGGG 0.602000 4 13 0 0 0.000248 0 0 ERP29 10961 broad.mit.edu 37 12 112460294 112460294 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:112460294G>C ENST00000261735.3 + 3 774 c.624G>C c.(622-624)aaG>aaC p.K208N ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.K107N NM_006817.3 NP_006808.1 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 208 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 TCATGGGGAAGATCTTAGACC 0.542000 17 48 0 0 0.004990 0 0 IL17C 27189 broad.mit.edu 37 16 88706361 88706361 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:88706361C>T ENST00000244241.4 + 3 524 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 159 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) GCTGGTGCTGCGCCGCCGGCC 0.701000 17 38 0 0 0.004990 0 0 IKBKE 9641 broad.mit.edu 37 1 206652436 206652436 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:206652436C>G ENST00000367120.3 + 10 1516 c.1143C>G c.(1141-1143)ctC>ctG p.L381L IKBKE_ENST00000537984.1_Silent_p.L296L NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 381 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body 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) CCCTGACCCTCTTCAGCACAG 0.607000 17 43 0 0 0.004007 0 0 ITGBL1 9358 broad.mit.edu 37 13 102235651 102235651 + Nonsense_Mutation SNP T T A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:102235651T>A ENST00000376180.3 + 6 1032 c.813T>A c.(811-813)tgT>tgA p.C271* ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.C130*|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.C178* NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 271 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCTGTGAATGTGATGAGAGGG 0.502000 33 141 0 0 0.002445 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929006 32929006 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:32929006C>T ENST00000361627.3 + 12 2754 c.2032C>T c.(2032-2034)Caa>Taa p.Q678* ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.Q489*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.Q489* NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 678 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TTCACCCCTTCAAACTCAAAC 0.308000 7 29 0 0 0.001984 0 0 SNHG14 104472715 broad.mit.edu 37 15 25432710 25432710 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:25432710C>T ENST00000424208.1 + 0 761 SNORD115-10_ENST00000365073.1_RNA NR_003305.1 CTTATATTGTCTGAAGAGAGG 0.512000 112 323 0 0 0.003610 0 0 TTLL13 440307 broad.mit.edu 37 15 90799463 90799463 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:90799463C>T ENST00000438251.1 + 6 929 c.639C>T c.(637-639)ttC>ttT p.F213F RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Silent_p.F213F A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 213 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) GTGGCATCTTCATTACCCGAA 0.537000 10 126 0 0 0.001855 0 0 DPY19L2P3 442524 broad.mit.edu 37 7 29726900 29726900 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:29726900C>G ENST00000602980.1 + 0 718 NR_036482.1 TAAAGGTAATCATAGCCTCCT 0.333000 15 36 0 0 0.002450 0 0 KBTBD3 143879 broad.mit.edu 37 11 105923824 105923824 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:105923824C>G ENST00000526793.1 - 3 1751 c.1592G>C c.(1591-1593)tGg>tCg p.W531S KBTBD3_ENST00000534815.1_Missense_Mutation_p.W452S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.W531S NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 527 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TTCGCCTTTCCAAACACAAGT 0.358000 5 46 0 0 0.000602 0 0 IGFLR1 79713 broad.mit.edu 37 19 36230880 36230880 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36230880T>C ENST00000592537.1 - 4 552 c.452A>G c.(451-453)gAg>gGg p.E151G IGFLR1_ENST00000588992.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.E151G Q9H665 IGFR1_HUMAN IGF-like family receptor 1 151 integral to membrane|plasma membrane protein binding|receptor activity endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1) 15 AGGGACAGGCTCAGGGGTCCT 0.632000 40 51 0 0 0.006999 0 0 EIF4A1 1973 broad.mit.edu 37 17 7480991 7480991 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:7480991G>T ENST00000293831.8 + 8 889 c.873G>T c.(871-873)aaG>aaT p.K291N EIF4A1_ENST00000582746.1_Missense_Mutation_p.K291N|EIF4A1_ENST00000577269.1_Missense_Mutation_p.K291N|SENP3-EIF4A1_ENST00000579777.1_RNA NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 291 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 TCACCGAGAAGATGCATGCTC 0.547000 23 107 2.98393e-07 4.02484e-07 0.002780 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204438482 204438482 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:204438482G>C ENST00000367187.3 - 3 1005 c.449C>G c.(448-450)tCt>tGt p.S150C PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S150C NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 150 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTTCTTGCAAGAGCCCTCTAT 0.577000 6 68 0 0 0.001168 0 0 TRIM3 10612 broad.mit.edu 37 11 6470362 6470362 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:6470362C>T ENST00000525074.1 - 12 2525 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K TRIM3_ENST00000345851.3_Missense_Mutation_p.E711K|TRIM3_ENST00000359518.3_Missense_Mutation_p.E711K|TRIM3_ENST00000536344.1_Missense_Mutation_p.E592K|TRIM3_ENST00000537602.1_Missense_Mutation_p.E633K NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 711 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACAGTGGTTCTGCAGATGTG 0.547000 18 40 0 0 0.008871 0 0 RHPN1 114822 broad.mit.edu 37 8 144463988 144463988 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:144463988G>A ENST00000289013.6 + 14 1748 c.1647G>A c.(1645-1647)ctG>ctA p.L549L NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 574 PDZ. signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CGGCTGGCCTGAAGGAGGGCG 0.677000 8 15 0 0 0.003080 0 0 STH 246744 broad.mit.edu 37 17 44076776 44076776 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:44076776G>C ENST00000537309.1 + 1 161 c.131G>C c.(130-132)aGa>aCa p.R44T MAPT_ENST00000571987.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 44 cytoplasm|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CAGGTTGCCAGAGACAGAACC 0.527000 12 48 0 0 0.001368 0 0 ATP1A1 476 broad.mit.edu 37 1 116935566 116935566 + Missense_Mutation SNP G G A rs148719009 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:116935566G>A ENST00000537345.1 + 11 1786 c.1423G>A c.(1423-1425)Gcc>Acc p.A475T ATP1A1_ENST00000295598.5_Missense_Mutation_p.A475T|ATP1A1_ENST00000369496.4_Missense_Mutation_p.A444T NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 475 A -> T (in Ref. 12; CAA27390). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) AGAAAGATACGCCAAAATCGT 0.537000 14 109 0 0 0.003163 0 0 SLC38A9 153129 broad.mit.edu 37 5 54922343 54922343 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54922343C>G ENST00000396865.2 - 16 2256 c.1665G>C c.(1663-1665)ctG>ctC p.L555L SLC38A9_ENST00000512595.1_Silent_p.L492L|SLC38A9_ENST00000318672.3_Silent_p.L555L|SLC38A9_ENST00000416547.2_Silent_p.L431L|SLC38A9_ENST00000515629.1_Silent_p.L492L|SLC38A9_ENST00000539768.1_3'UTR NM_173514.3 NP_775785.2 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 555 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) ACTGAACAATCAGGTTAGCCA 0.358000 85 90 0 0 0.003610 0 0 FOSB 2354 broad.mit.edu 37 19 45976195 45976195 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:45976195C>T ENST00000353609.3 + 4 1534 c.942C>T c.(940-942)ttC>ttT p.F314F FOSB_ENST00000586615.1_Silent_p.F265F|FOSB_ENST00000443841.2_Silent_p.F171F|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000585836.1_Silent_p.F239F|FOSB_ENST00000417353.2_Silent_p.F278F|FOSB_ENST00000591858.1_Silent_p.F275F|FOSB_ENST00000592811.1_3'UTR|ERCC1_ENST00000423698.2_Intron NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 314 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) TCTCCGCGTTCGCCGGCGCCC 0.577000 25 169 0 0 0.003330 0 0 MCF2L2 23101 broad.mit.edu 37 3 182923668 182923668 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:182923668G>C ENST00000328913.3 - 25 3177 c.2880C>G c.(2878-2880)atC>atG p.I960M MCF2L2_ENST00000473233.1_Missense_Mutation_p.I960M|MCF2L2_ENST00000468976.1_5'UTR NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 960 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACCTACCTTTGATATTATTTT 0.368000 10 21 0 0 0.001368 0 0 GREB1 9687 broad.mit.edu 37 2 11756766 11756766 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:11756766C>G ENST00000381486.2 + 21 3632 c.3332C>G c.(3331-3333)tCg>tGg p.S1111W GREB1_ENST00000396123.1_Missense_Mutation_p.S109W|GREB1_ENST00000234142.5_Missense_Mutation_p.S1111W NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1111 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCTCTACCTCGGAGAAGAGA 0.542000 27 168 0 0 0.006320 0 0 CDK14 5218 broad.mit.edu 37 7 90356077 90356077 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:90356077C>G ENST00000406263.1 + 2 624 c.182C>G c.(181-183)tCc>tGc p.S61C CDK14_ENST00000265741.3_Missense_Mutation_p.S89C|CDK14_ENST00000380050.3_Missense_Mutation_p.S107C|CDK14_ENST00000436577.2_Missense_Mutation_p.P10A O94921 CDK14_HUMAN cyclin-dependent kinase 14 107 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AAGACCTCCTCCACTGGCAAA 0.458000 8 83 0 0 0.003080 0 0 MME 4311 broad.mit.edu 37 3 154834674 154834674 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:154834674G>A ENST00000460393.1 + 7 673 c.553G>A c.(553-555)Gaa>Aaa p.E185K MME_ENST00000360490.2_Missense_Mutation_p.E185K|MME_ENST00000462745.1_Missense_Mutation_p.E185K|MME_ENST00000492661.1_Missense_Mutation_p.E185K|MME_ENST00000493237.1_Missense_Mutation_p.E185K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 185 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGGACAGCTGAAAAAGCTAT 0.284000 12 35 0 0 0.001368 0 0 ABCA9 10350 broad.mit.edu 37 17 66980209 66980209 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66980209G>A ENST00000340001.4 - 35 4698 c.4487C>T c.(4486-4488)tCa>tTa p.S1496L ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.S1458L NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1496 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CAGCCTTCCTGACACCATGAT 0.597000 24 110 0 0 0.004656 0 0 ZNF812 729648 broad.mit.edu 37 19 9801374 9801374 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9801374G>C ENST00000457674.2 - 5 1323 c.805C>G c.(805-807)Caa>Gaa p.Q269E ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGTGAATTTGAATGTGAACA 0.363000 17 49 0 0 0.004007 0 0 HOXC11 3227 broad.mit.edu 37 12 54367605 54367605 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54367605G>A ENST00000546378.1 + 1 696 c.580G>A c.(580-582)Gag>Aag p.E194K HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E194K O43248 HXC11_HUMAN homeobox C11 194 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 GTCCCGGGCTGAGGCGGGTGC 0.756000 T NUP98 AML 7 13 0 0 0.001984 0 0 PARD6G 84552 broad.mit.edu 37 18 77917935 77917935 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:77917935C>T ENST00000353265.3 - 3 1047 c.850G>A c.(850-852)Gtc>Atc p.V284I AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 284 cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) TTCTGCAGGACGCGCGGGGCG 0.731000 5 18 0 0 0.000602 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202747 140202747 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140202747G>A ENST00000529859.1 + 1 1387 c.1387G>A c.(1387-1389)Gtg>Atg p.V463M PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V463M|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V463M NM_018908.2 NP_061731.1 p.V463M(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCGTGTTCGTGAAGGAGAA 0.662000 28 94 0 0 0.006320 0 0 NCK2 8440 broad.mit.edu 37 2 106498397 106498397 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:106498397C>T ENST00000233154.4 + 4 1282 c.840C>T c.(838-840)ttC>ttT p.F280F NCK2_ENST00000393349.2_Silent_p.F280F|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 280 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GCGGGCGCTTCGCGGGCAGAG 0.672000 6 33 0 0 0.001984 0 0 LRRK1 79705 broad.mit.edu 37 15 101588736 101588736 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:101588736G>A ENST00000284395.5 + 23 3564 c.3164G>A c.(3163-3165)aGg>aAg p.R1055K RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.R1058K Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1058 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCAGGAACAGGAAAGTCACC 0.448000 26 108 0 0 0.004656 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909880 32909880 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:32909880C>G ENST00000304056.4 - 4 1648 c.949G>C c.(949-951)Gat>Cat p.D317H AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 317 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) ATGTAGATATCATTATCAGGA 0.413000 28 83 0 0 0.006320 0 0 RALGDS 5900 broad.mit.edu 37 9 135979668 135979668 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:135979668C>G ENST00000393160.3 - 10 1841 c.1488G>C c.(1486-1488)caG>caC p.Q496H RALGDS_ENST00000372047.3_Missense_Mutation_p.Q539H|RALGDS_ENST00000542690.1_Missense_Mutation_p.Q622H|RALGDS_ENST00000393157.3_Missense_Mutation_p.Q550H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.Q551H|RALGDS_ENST00000372062.3_Missense_Mutation_p.Q522H NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 551 Ras-GEF. R -> L (in a colorectal cancer sample; somatic mutation). nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCGGCCGTTTCTGGGCTCTCT 0.662000 T CIITA """PMBL, Hodgkin Lymphona, """ 16 34 0 0 0.004007 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105456731 105456731 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:105456731C>G ENST00000258494.9 - 7 996 c.856G>C c.(856-858)Ggt>Cgt p.G286R ALDH1L2_ENST00000424857.2_Missense_Mutation_p.G286R NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 286 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TTCTTGGCACCTTTAATTTCC 0.403000 19 55 0 0 0.008871 0 0 GBP3 2635 broad.mit.edu 37 1 89486323 89486323 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:89486323G>T ENST00000370481.4 - 2 302 c.82C>A c.(82-84)Ctg>Atg p.L28M GBP3_ENST00000475853.2_5'UTR NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 28 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) AGGATTTTCAGAGCTTCTGGA 0.517000 37 106 6.05902e-23 8.59375e-23 0.003755 1 0 SZT2 23334 broad.mit.edu 37 1 43896036 43896036 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43896036G>C ENST00000562955.1 + 30 4285 c.4285G>C c.(4285-4287)Gag>Cag p.E1429Q SZT2_ENST00000372442.1_Missense_Mutation_p.E587Q NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1486 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGAGTTTTCAGAGGCTGAGCT 0.522000 27 59 0 0 0.008361 0 0 DDX59 83479 broad.mit.edu 37 1 200617569 200617569 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:200617569G>C ENST00000447706.2 - 7 1745 c.1594C>G c.(1594-1596)Cag>Gag p.Q532E DDX59_ENST00000331314.6_Missense_Mutation_p.Q532E|DDX59_ENST00000367348.3_Missense_Mutation_p.Q532E Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 532 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 CTCCTTACCTGATGGACATAC 0.418000 26 54 0 0 0.006320 0 0 SRM 6723 broad.mit.edu 37 1 11116794 11116794 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:11116794C>A ENST00000376957.2 - 4 482 c.402G>T c.(400-402)aaG>aaT p.K134N NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 134 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) GCAGGAACTTCTTGGAGACTT 0.577000 11 48 6.40141e-05 8.50728e-05 0.000978 1 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184038 26184038 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:26184038G>A ENST00000356530.3 + 1 81 c.15G>A c.(13-15)gcG>gcA p.A5A NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 5 A -> S (in Ref. 2; CAB02545). defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CTGAGCCAGCGAAATCCGCTC 0.512000 29 73 0 0 0.007291 0 0 ZNF311 282890 broad.mit.edu 37 6 28966565 28966565 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:28966565C>G ENST00000377179.3 - 6 873 c.361G>C c.(361-363)Gac>Cac p.D121H ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 ACACAGGGGTCTACTTCTCGC 0.448000 10 68 0 0 0.000978 0 0 TDRD6 221400 broad.mit.edu 37 6 46661399 46661399 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46661399C>G ENST00000544460.1 + 1 5788 c.5534C>G c.(5533-5535)tCa>tGa p.S1845* TDRD6_ENST00000316081.6_Nonsense_Mutation_p.S1845* NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1845 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GATGATGAATCAAAAGAATTC 0.418000 11 71 0 0 0.000978 0 0 ATP1A4 480 broad.mit.edu 37 1 160136489 160136489 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:160136489G>T ENST00000368081.4 + 8 1690 c.1219G>T c.(1219-1221)Gag>Tag p.E407* NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 407 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GACCGTGTATGAGGCCGACAC 0.552000 10 71 1.76689e-08 2.39719e-08 0.006214 1 0 MGA 23269 broad.mit.edu 37 15 42042799 42042799 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42042799G>C ENST00000219905.7 + 17 7175 c.6994G>C c.(6994-6996)Gat>Cat p.D2332H MGA_ENST00000570161.1_Missense_Mutation_p.D2332H|MGA_ENST00000389936.4_Missense_Mutation_p.D2293H|MGA_ENST00000545763.1_Missense_Mutation_p.D2123H|MGA_ENST00000566586.1_Missense_Mutation_p.D2123H NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2293 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGAGGAGGTTGATGATGTAGA 0.348000 5 19 0 0 0.001168 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124212437 124212437 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:124212437C>T ENST00000330342.3 + 6 877 c.629C>T c.(628-630)tCc>tTc p.S210F NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 210 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CTGGATGAATCCCTTGAAGAC 0.418000 6 64 0 0 0.001168 0 0 KLKB1 3818 broad.mit.edu 37 4 187173013 187173013 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187173013C>G ENST00000264690.6 + 10 1329 c.1142C>G c.(1141-1143)tCt>tGt p.S381C KLKB1_ENST00000513864.1_Missense_Mutation_p.S381C NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 381 S -> A (in dbSNP:rs4253301). blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGGGACAACTCTGGTGAGTAA 0.423000 20 109 0 0 0.001523 0 0 LRBA 987 broad.mit.edu 37 4 151511949 151511949 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:151511949G>C ENST00000535741.1 - 39 6582 c.6109C>G c.(6109-6111)Cag>Gag p.Q2037E LRBA_ENST00000507224.1_Missense_Mutation_p.Q2037E|LRBA_ENST00000357115.3_Missense_Mutation_p.Q2048E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q2037E P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2048 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TCTGAGTTCTGATTTCCTAAA 0.428000 40 45 0 0 0.008740 0 0 DDX24 57062 broad.mit.edu 37 14 94528596 94528596 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:94528596C>G ENST00000330836.5 - 3 1221 c.1090G>C c.(1090-1092)Gag>Cag p.E364Q DDX24_ENST00000555054.1_Missense_Mutation_p.E321Q|DDX24_ENST00000544005.1_Missense_Mutation_p.E114Q NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 364 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CCAGTCTGCTCTTTATCAAGA 0.483000 41 110 0 0 0.002852 0 0 PPFIA1 8500 broad.mit.edu 37 11 70189871 70189871 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:70189871G>C ENST00000253925.7 + 15 2019 c.1804G>C c.(1804-1806)Gat>Cat p.D602H PPFIA1_ENST00000389547.3_Missense_Mutation_p.D602H|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 602 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGACGTGTCTGATGGTGAAGA 0.532000 7 58 0 0 0.001984 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675946 54675946 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54675946G>C ENST00000546500.1 + 4 967 c.352G>C c.(352-354)Gaa>Caa p.E118Q HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E118Q|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.E118Q|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E118Q P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 118 Globular B domain.|RRM 2. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 AGACACTGAAGAACATCACCT 0.383000 14 35 0 0 0.002450 0 0 RET 5979 broad.mit.edu 37 10 43601965 43601965 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:43601965G>A ENST00000355710.3 + 5 1241 c.1009G>A c.(1009-1011)Gag>Aag p.E337K RET_ENST00000340058.5_Missense_Mutation_p.E337K NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 337 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CTGGCCCAACGAGACCTCGGT 0.652000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 11 20 0 0 0.008291 0 0 CHIA 27159 broad.mit.edu 37 1 111854934 111854934 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:111854934G>A ENST00000369740.1 + 4 281 c.178G>A c.(178-180)Ggg>Agg p.G60R CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.G60R|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000353665.6_Intron NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 60 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CGCCTTTGCTGGGAGGCAGAA 0.522000 14 119 0 0 0.002450 0 0 LAMA3 3909 broad.mit.edu 37 18 21494446 21494446 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:21494446G>C ENST00000313654.9 + 57 7643 c.7402G>C c.(7402-7404)Gag>Cag p.E2468Q LAMA3_ENST00000269217.6_Missense_Mutation_p.E859Q|LAMA3_ENST00000587184.1_Missense_Mutation_p.E803Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2412Q|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2468 Laminin G-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGGACCGTGAGGCTGAACT 0.537000 5 72 0 0 0.001168 0 0 NFE2 4778 broad.mit.edu 37 12 54686810 54686810 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54686810G>A ENST00000540264.2 - 2 979 c.470C>T c.(469-471)tCt>tTt p.S157F RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.S157F|NFE2_ENST00000553070.1_Missense_Mutation_p.S157F|NFE2_ENST00000435572.2_Missense_Mutation_p.S157F Q16621 NFE2_HUMAN nuclear factor, erythroid 2 157 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 CAGCTCAAGAGATTCAGCATC 0.567000 50 133 0 0 0.003610 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850597 58850597 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58850597G>C ENST00000329665.4 + 3 1528 c.1381G>C c.(1381-1383)Gag>Cag p.E461Q NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 461 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CCACACGGGAGAGAAGCCTTA 0.542000 8 110 0 0 0.004482 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209836 140209836 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140209836G>A ENST00000529310.1 + 1 2274 c.2160G>A c.(2158-2160)gcG>gcA p.A720A PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACACAGCGCTGCGGTGCT 0.677000 12 79 0 0 0.000978 0 0 KANK2 25959 broad.mit.edu 37 19 11277264 11277264 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11277264C>G ENST00000432929.2 - 13 2910 c.2550G>C c.(2548-2550)gaG>gaC p.E850D KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Missense_Mutation_p.E842D|KANK2_ENST00000355150.5_Missense_Mutation_p.E842D|KANK2_ENST00000589359.1_Missense_Mutation_p.E850D NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 842 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATGTAGGGCTCTCGTCATCTG 0.587000 11 71 0 0 0.001368 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081206 53081206 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:53081206G>C ENST00000305901.5 - 1 1003 c.876C>G c.(874-876)atC>atG p.I292M ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 292 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) CTTTGGTATTGATCTCTTCCA 0.627000 36 101 0 0 0.003755 0 0 DFFB 1677 broad.mit.edu 37 1 3782299 3782299 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:3782299C>T ENST00000378212.2 + 3 657 c.334C>T c.(334-336)Cag>Tag p.Q112* DFFB_ENST00000338895.3_Intron|DFFB_ENST00000378209.3_Intron O76075 DFFB_HUMAN DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 0 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) AAGATGTGGTCAGAGGCTCTT 0.587000 6 27 0 0 0.001984 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675092 40675092 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:40675092C>T ENST00000416151.2 + 1 171 c.56C>T c.(55-57)tCt>tTt p.S19F KNSTRN_ENST00000249776.8_Missense_Mutation_p.S19F|KNSTRN_ENST00000448395.2_Missense_Mutation_p.S19F NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein ACATGGCTGTCTACAGAGTGC 0.592000 6 44 0 0 0.001168 0 0 VPS13D 55187 broad.mit.edu 37 1 12326961 12326961 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:12326961C>G ENST00000358136.3 + 14 1748 c.1618C>G c.(1618-1620)Ctt>Gtt p.L540V VPS13D_ENST00000356315.4_Missense_Mutation_p.L540V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 540 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGCAGAGTCTCTTCCTCGAAG 0.368000 22 42 0 0 0.001882 0 0 ZMYND8 23613 broad.mit.edu 37 20 45850058 45850058 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:45850058C>A ENST00000311275.7 - 20 3517 c.3264G>T c.(3262-3264)ggG>ggT p.G1088G ZMYND8_ENST00000360911.3_Silent_p.G1037G|ZMYND8_ENST00000352431.2_Silent_p.G1062G|ZMYND8_ENST00000262975.4_Silent_p.G1042G|ZMYND8_ENST00000540497.1_Silent_p.G1036G|ZMYND8_ENST00000536340.1_Silent_p.G1115G|ZMYND8_ENST00000446994.2_Silent_p.G979G|ZMYND8_ENST00000355972.4_Silent_p.G1088G|ZMYND8_ENST00000461685.1_Silent_p.G1062G|ZMYND8_ENST00000372023.3_Silent_p.G1010G|ZMYND8_ENST00000396281.4_Silent_p.G1088G|ZMYND8_ENST00000471951.2_Silent_p.G1108G|ZMYND8_ENST00000458360.2_Silent_p.G956G NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 1088 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCGAGGAGCTCCCCTGGGAGG 0.547000 27 43 3.6726e-16 5.14164e-16 0.003954 1 0 PCNXL2 80003 broad.mit.edu 37 1 233314877 233314877 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:233314877G>A ENST00000258229.9 - 16 3345 c.3111C>T c.(3109-3111)ttC>ttT p.F1037F PCNXL2_ENST00000488780.2_Silent_p.F170F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGAGGCCACAGAAGGCCGAAA 0.512000 10 57 0 0 0.001368 0 0 ALDH3A1 218 broad.mit.edu 37 17 19642974 19642974 + Silent SNP G G A rs151020632 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:19642974G>A ENST00000457500.2 - 7 1292 c.963C>T c.(961-963)ctC>ctT p.L321L ALDH3A1_ENST00000225740.6_Silent_p.L321L|ALDH3A1_ENST00000444455.1_Silent_p.L321L|ALDH3A1_ENST00000494157.2_Silent_p.L248L|ALDH3A1_ENST00000395555.3_Intron NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 321 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CCACGTCCGTGAGGATGGTGG 0.642000 14 47 0 0 0.004007 0 0 CELF4 56853 broad.mit.edu 37 18 34839145 34839145 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:34839145G>A ENST00000420428.2 - 11 1727 c.1332C>T c.(1330-1332)ttC>ttT p.F444F CELF4_ENST00000601019.1_Splice_Site_p.F442F|CELF4_ENST00000603232.1_Splice_Site_p.F443F|CELF4_ENST00000591282.1_Splice_Site_p.F444F|CELF4_ENST00000591287.1_Splice_Site_p.F442F|CELF4_ENST00000361795.5_Splice_Site_p.F442F|CELF4_ENST00000412753.1_Splice_Site_p.F443F|CELF4_ENST00000588597.1_Silent_p.F432F|CELF4_ENST00000334919.5_Intron NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 444 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TGACATTACCGAAAGGGAGGA 0.522000 24 61 0 0 0.005443 0 0 SPTAN1 6709 broad.mit.edu 37 9 131369932 131369932 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:131369932G>T ENST00000372739.3 + 32 4206 c.4096G>T c.(4096-4098)Gag>Tag p.E1366* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E1366*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1366* NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1366 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GTCCTCAGATGAGCTAGCCAA 0.542000 73 94 1.78839e-46 2.55215e-46 0.003610 1 0 SLC26A3 1811 broad.mit.edu 37 7 107430026 107430026 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:107430026G>C ENST00000340010.5 - 6 862 c.678C>G c.(676-678)ctC>ctG p.L226L SLC26A3_ENST00000422236.2_Silent_p.L191L NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 226 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 AAATGAATTTGAGTTGGGAAA 0.388000 3 34 0 0 0.000248 0 0 TSIX 9383 broad.mit.edu 37 X 73042995 73042995 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:73042995G>C ENST00000604411.1 + 0 30956 XIST_ENST00000429829.1_lincRNA NR_003255.2 AATAAAAGCAGAATGTTTAGT 0.358000 7 13 0 0 0.001984 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 20 0 0 0.000978 0 0 UHMK1 127933 broad.mit.edu 37 1 162468057 162468057 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:162468057C>T ENST00000489294.1 + 1 425 c.267C>T c.(265-267)atC>atT p.I89I UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Splice_Site_p.I89I|UHMK1_ENST00000545294.1_Intron NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 89 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) ACAGAAACATCGGTAATTGCC 0.607000 4 22 0 0 0.001168 0 0 NIPBL 25836 broad.mit.edu 37 5 37064931 37064931 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:37064931G>A ENST00000282516.8 + 47 8851 c.8352G>A c.(8350-8352)ctG>ctA p.L2784L NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2784 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTAATAAGCTGACTAATAAAG 0.408000 23 61 0 0 0.002299 0 0 LOXL3 84695 broad.mit.edu 37 2 74762786 74762786 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:74762786C>T ENST00000264094.3 - 8 1416 c.1345G>A c.(1345-1347)Gac>Aac p.D449N LOXL3_ENST00000409986.1_Missense_Mutation_p.D304N|LOXL3_ENST00000393937.2_Missense_Mutation_p.D304N|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 449 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 GTCCCCCAGTCATCCCCACAG 0.662000 23 114 0 0 0.003330 0 0 MALAT1 378938 broad.mit.edu 37 11 65272099 65272099 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65272099G>C ENST00000534336.1 + 0 6867 NR_002819.2 CTGGTGGTGGGAGGGGACTGA 0.373000 10 34 0 0 0.006214 0 0 MDN1 23195 broad.mit.edu 37 6 90442463 90442463 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:90442463G>A ENST00000369393.3 - 34 4870 c.4755C>T c.(4753-4755)ttC>ttT p.F1585F MDN1_ENST00000428876.1_Silent_p.F1585F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1585 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCCAGTCAATGAAATCCAGCA 0.438000 14 88 0 0 0.003163 0 0 MIA3 375056 broad.mit.edu 37 1 222826446 222826446 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:222826446C>T ENST00000344922.5 + 14 4208 c.4183C>T c.(4183-4185)Ctt>Ttt p.L1395F MIA3_ENST00000344441.6_Missense_Mutation_p.L1395F|MIA3_ENST00000340535.7_Missense_Mutation_p.L273F|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1395 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GGAAGTAGCTCTTACTCACAA 0.348000 4 48 0 0 0.000248 0 0 ECE2 9718 broad.mit.edu 37 3 183967544 183967544 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:183967544G>T ENST00000402825.3 + 1 62 c.62G>T c.(61-63)cGc>cTc p.R21L ECE2_ENST00000324557.4_Missense_Mutation_p.R21L|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 21 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCGGGTACCGCGAAGTCGAG 0.667000 OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 56 0.00307968 0.00404644 0.003080 1 0 GPR55 9290 broad.mit.edu 37 2 231775629 231775629 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:231775629C>T ENST00000392040.1 - 2 241 c.49G>A c.(49-51)Gag>Aag p.E17K GPR55_ENST00000392039.2_Missense_Mutation_p.E17K NM_005683.3 NP_005674.2 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 17 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) TTCATCAGCTCGTTGACACCG 0.527000 17 75 0 0 0.004007 0 0 SZT2 23334 broad.mit.edu 37 1 43905590 43905590 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43905590G>C ENST00000562955.1 + 50 6910 c.6910G>C c.(6910-6912)Gaa>Caa p.E2304Q SZT2_ENST00000372442.1_Missense_Mutation_p.E1462Q NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2361 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGATGTGTGGGAAAAGGGGAA 0.577000 27 45 0 0 0.007291 0 0 MTDH 92140 broad.mit.edu 37 8 98712020 98712020 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:98712020G>C ENST00000336273.3 + 7 1415 c.1087G>C c.(1087-1089)Gat>Cat p.D363H MTDH_ENST00000519934.1_Intron NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 363 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TACCACTTCTGATTATCAGTG 0.333000 27 183 0 0 0.008361 0 0 HADHA 3030 broad.mit.edu 37 2 26414459 26414459 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:26414459C>G ENST00000380649.3 - 19 2168 c.2039G>C c.(2038-2040)aGa>aCa p.R680T NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 680 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) ATTCACAAATCTTGTCACCAG 0.542000 38 61 0 0 0.007835 0 0 KMT2B 9757 broad.mit.edu 37 19 36211234 36211234 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36211234C>T ENST00000222270.7 + 3 985 c.985C>T c.(985-987)Caa>Taa p.Q329* KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.Q329*|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.Q329* NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B AGGTCAAGGTCAAGGTCAACA 0.512000 5 26 0 0 0.000602 0 0 GCSAM 257144 broad.mit.edu 37 3 111851948 111851948 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:111851948C>G ENST00000308910.4 - 1 204 c.20G>C c.(19-21)aGa>aCa p.R7T GCSAM_ENST00000484193.1_Missense_Mutation_p.R7T NM_001190259.1|NM_001190260.1|NM_152785.4 NP_001177188.1|NP_001177189.1|NP_689998.1 germinal center-associated, signaling and motility CCTGTTTTCTCTCAGCAGAGA 0.502000 30 169 0 0 0.002836 0 0 LRIG1 26018 broad.mit.edu 37 3 66502041 66502041 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:66502041C>T ENST00000383703.3 - 3 910 c.307G>A c.(307-309)Gag>Aag p.E103K LRIG1_ENST00000273261.3_Missense_Mutation_p.E103K Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 103 integral to membrane p.E103*(1) NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCTGTCAACTCATTATTATTG 0.438000 51 68 0 0 0.003610 0 0 ABCC11 85320 broad.mit.edu 37 16 48237196 48237196 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:48237196G>C ENST00000394747.1 - 13 2170 c.1821C>G c.(1819-1821)ctC>ctG p.L607L ABCC11_ENST00000394748.1_Silent_p.L607L|ABCC11_ENST00000356608.2_Silent_p.L607L|ABCC11_ENST00000537808.1_Silent_p.L607L|ABCC11_ENST00000353782.5_Silent_p.L607L NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 607 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCAGCAGTGGAGCACCTGGA 0.582000 8 10 0 0 0.006214 0 0 ZXDC 79364 broad.mit.edu 37 3 126193905 126193905 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:126193905G>C ENST00000389709.3 - 1 857 c.804C>G c.(802-804)ttC>ttG p.F268L ZXDC_ENST00000336332.5_Missense_Mutation_p.F268L NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 268 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) CCTCGCACTTGAACAGGCTCT 0.627000 3 13 0 0 0.000248 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58285149 58285149 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:58285149G>A ENST00000249750.4 - 6 1445 c.678C>T c.(676-678)atC>atT p.I226I ALDH1A2_ENST00000559517.1_Silent_p.I130I|ALDH1A2_ENST00000537372.1_Silent_p.I205I|ALDH1A2_ENST00000558231.1_Silent_p.I197I|ALDH1A2_ENST00000347587.3_Silent_p.I226I NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 226 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTACCTCCTTGATGAGGGCTC 0.473000 48 125 0 0 0.003610 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82197748 82197748 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:82197748C>T ENST00000258169.4 - 2 153 c.103G>A c.(103-105)Gaa>Aaa p.E35K MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.E17K|MPHOSPH6_ENST00000567729.1_5'UTR|MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.E35K NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 35 Poly-Glu. M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding endometrium(1)|large_intestine(1)|lung(3) 5 ATTTTCTTTTCTTCTTCTTCT 0.353000 22 58 0 0 0.002780 0 0 MIR515-2 574465 broad.mit.edu 37 19 54188280 54188280 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:54188280C>G ENST00000384883.1 + 0 18 NR_030184.1|NR_030187.1 CAGTCATTCTCCAAAAGAAAG 0.388000 54 85 0 0 0.003610 0 0 LGI3 203190 broad.mit.edu 37 8 22011497 22011497 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:22011497C>G ENST00000306317.2 - 5 767 c.478G>C c.(478-480)Gac>Cac p.D160H LGI3_ENST00000424267.2_Missense_Mutation_p.D136H NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 160 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) TTCAGGATGTCCAGGGGCCGG 0.572000 12 81 0 0 0.003163 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580555 140580555 + Nonsense_Mutation SNP T T A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140580555T>A ENST00000354757.3 + 1 1208 c.1208T>A c.(1207-1209)tTg>tAg p.L403* PCDHB11_ENST00000536699.1_Nonsense_Mutation_p.L38* NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 403 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACTACACGTTGGAAACAGAG 0.478000 20 114 0 0 0.001882 0 0 ST7L 54879 broad.mit.edu 37 1 113159453 113159453 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:113159453C>T ENST00000358039.4 - 2 574 c.270G>A c.(268-270)ttG>ttA p.L90L ST7L_ENST00000538187.1_Silent_p.L34L|ST7L_ENST00000490067.1_Silent_p.L73L|ST7L_ENST00000360743.4_Silent_p.L90L|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Silent_p.L90L|ST7L_ENST00000544629.1_Silent_p.L90L|ST7L_ENST00000543570.1_Silent_p.L73L|ST7L_ENST00000343210.7_Silent_p.L90L|ST7L_ENST00000369669.1_5'UTR|ST7L_ENST00000369666.1_Silent_p.L73L NM_017744.4|NM_138727.3 NP_060214.2|NP_620055.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like 90 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCCTGATATCAATGAAGAGG 0.299000 10 105 0 0 0.000978 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014950 75014950 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:75014950C>T ENST00000379727.3 - 2 687 c.489G>A c.(487-489)gtG>gtA p.V163V CYP1A1_ENST00000395049.4_Silent_p.V163V|CYP1A1_ENST00000395048.2_Silent_p.V163V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.V163V P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 163 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCTCCTTGCTCACATGCTCTT 0.582000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 34 110 0 0 0.002836 0 0 IGLV1-40 28825 broad.mit.edu 37 22 22764341 22764341 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:22764341C>T ENST00000390299.2 + 0 134 CAGCCGCCCTCAGTGTCTGGG 0.582000 OREG0026360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 208 0 0 0.003610 0 0 ATP4A 495 broad.mit.edu 37 19 36054367 36054367 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36054367C>T ENST00000262623.3 - 2 103 c.75G>A c.(73-75)aaG>aaA p.K25K NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 25 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCTTGCTCATCTTGGCAGCCA 0.577000 75 280 0 0 0.003610 0 0 DMXL2 23312 broad.mit.edu 37 15 51772963 51772963 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51772963C>T ENST00000251076.5 - 24 6627 c.6340G>A c.(6340-6342)Gaa>Aaa p.E2114K RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1478K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2114K NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2114 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTACCATTTCTTCCTGATCC 0.398000 25 130 0 0 0.004656 0 0 MALAT1 378938 broad.mit.edu 37 11 65268341 65268341 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65268341G>C ENST00000534336.1 + 0 3109 NR_002819.2 GAGGTGTAAAGGGATTTATAT 0.403000 16 38 0 0 0.004007 0 0 SHROOM3 57619 broad.mit.edu 37 4 77651964 77651964 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:77651964G>A ENST00000296043.6 + 4 1416 c.463G>A c.(463-465)Gag>Aag p.E155K SHROOM3_ENST00000473602.1_3'UTR NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 155 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CAGGCGCAGTGAGCCTGCAGG 0.562000 48 87 0 0 0.003610 0 0 DMXL2 23312 broad.mit.edu 37 15 51773374 51773374 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51773374C>G ENST00000251076.5 - 24 6216 c.5929G>C c.(5929-5931)Gat>Cat p.D1977H RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1341H|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1977H NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1977 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCACCCCAATCAAGATTAAGA 0.408000 72 193 0 0 0.003610 0 0 CELSR1 9620 broad.mit.edu 37 22 46859643 46859643 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:46859643C>T ENST00000262738.3 - 2 4143 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1382 EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TAGCCGCCCTCGCGGCTGCGG 0.687000 5 15 0 0 0.001168 0 0 SCN11A 11280 broad.mit.edu 37 3 38962667 38962667 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:38962667G>A ENST00000450244.1 - 6 990 c.792C>T c.(790-792)ctC>ctT p.L264L SCN11A_ENST00000456224.3_Silent_p.L264L|SCN11A_ENST00000302328.3_Silent_p.L264L|SCN11A_ENST00000444237.2_Silent_p.L264L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 264 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAAAGATGCTGAGGCAAAAGA 0.498000 34 252 0 0 0.002836 0 0 MICAL1 64780 broad.mit.edu 37 6 109769984 109769984 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:109769984C>T ENST00000368952.4 - 12 1962 c.1672G>A c.(1672-1674)Gat>Aat p.D558N MICAL1_ENST00000358807.3_Missense_Mutation_p.D539N|MICAL1_ENST00000358577.3_Missense_Mutation_p.D453N Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 539 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GCTAGCCCATCAGCCCAGGAG 0.622000 56 122 0 0 0.003610 0 0 GIGYF1 64599 broad.mit.edu 37 7 100284421 100284421 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100284421C>G ENST00000275732.5 - 7 1754 c.545G>C c.(544-546)gGa>gCa p.G182A GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 182 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCCAGCCCCTCCCTCCTCAAA 0.642000 17 51 0 0 0.007413 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252372 145252372 + Silent SNP G G A rs150272088 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:145252372G>A ENST00000377976.1 - 1 159 c.160C>T c.(160-162)Ctg>Ttg p.L54L NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 54 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GACTCTTGCAGAAAACTGTGA 0.493000 40 92 0 0 0.005524 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222611 140222611 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140222611C>G ENST00000531613.1 + 1 1705 c.1705C>G c.(1705-1707)Cgg>Ggg p.R569G PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R569G|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018911.2 NP_061734.1 p.R569W(2) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGAGCCTCGGGTGGGTGG 0.721000 36 76 0 0 0.005524 0 0 MCF2L 23263 broad.mit.edu 37 13 113720402 113720402 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:113720402G>C ENST00000397030.1 + 8 935 c.898G>C c.(898-900)Gag>Cag p.E300Q MCF2L_ENST00000375601.3_Missense_Mutation_p.E271Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.E265Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.E271Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.E324Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.E297Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.E273Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.E265Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.E267Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.E297Q O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 297 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CAGTGTCCTGGAGAGCCTCAG 0.642000 9 19 0 0 0.006214 0 0 GCFC2 6936 broad.mit.edu 37 2 75915007 75915007 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:75915007C>G ENST00000321027.3 - 11 1769 c.1636G>C c.(1636-1638)Gat>Cat p.D546H GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.D508H|MRPL19_ENST00000358788.6_Intron NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 546 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ACTTTTTTATCTGAACTACTT 0.348000 8 55 0 0 0.004482 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730768 22730768 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:22730768C>G ENST00000390296.2 + 0 291 AGCCGCTTCTCTGGATCCAAA 0.527000 43 147 0 0 0.008740 0 0 SFSWAP 6433 broad.mit.edu 37 12 132198734 132198734 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:132198734G>C ENST00000261674.4 + 2 478 c.337G>C c.(337-339)Gag>Cag p.E113Q SFSWAP_ENST00000541286.1_Missense_Mutation_p.E113Q NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 113 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 GTGTGATGAAGAGAGGTATTT 0.453000 5 35 0 0 0.000602 0 0 SEPT14 346288 broad.mit.edu 37 7 55873034 55873034 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:55873034G>A ENST00000388975.3 - 9 1152 c.1036C>T c.(1036-1038)Cag>Tag p.Q346* NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 346 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCTTCCCTCTGACATTGATCA 0.348000 5 52 0 0 0.000602 0 0 RIPK2 8767 broad.mit.edu 37 8 90798902 90798902 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:90798902G>A ENST00000220751.4 + 9 1425 c.1111G>A c.(1111-1113)Gat>Aat p.D371N RIPK2_ENST00000540020.1_Missense_Mutation_p.D234N NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 371 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCAAGACAATGATTTTTTATC 0.338000 13 124 0 0 0.001855 0 0 SNAP47 116841 broad.mit.edu 37 1 227923158 227923158 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:227923158G>A ENST00000366759.4 + 1 462 c.48G>A c.(46-48)ccG>ccA p.P16P SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.P16P NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 16 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCGAGCGGCCGAGGCGCCGCG 0.761000 3 5 0 0 0.004672 0 0 CPXM1 56265 broad.mit.edu 37 20 2776510 2776510 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:2776510C>A ENST00000380605.2 - 11 1519 c.1455G>T c.(1453-1455)tgG>tgT p.W485C NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 485 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TCCGCTTCATCCACTTGATTA 0.637000 21 70 1.96292e-10 2.7107e-10 0.001523 1 0 TIGD2 166815 broad.mit.edu 37 4 90034378 90034378 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:90034378G>C ENST00000317005.2 + 1 411 c.253G>C c.(253-255)Gag>Cag p.E85Q NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 85 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) AGTTATGATAGAGTGGTTTAA 0.393000 15 65 0 0 0.006122 0 0 MFAP1 4236 broad.mit.edu 37 15 44109443 44109443 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:44109443C>T ENST00000267812.3 - 2 515 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 95 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TCCACATCTTCACTAATACGG 0.403000 27 145 0 0 0.002096 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858021 149858021 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:149858021G>A ENST00000369155.2 - 1 211 c.170C>T c.(169-171)tCc>tTc p.S57F NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 57 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CATGGCCTTGGACGAGATGCC 0.587000 82 172 0 0 0.003610 0 0 NAPA 8775 broad.mit.edu 37 19 47998837 47998837 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47998837C>G ENST00000263354.3 - 4 611 c.312G>C c.(310-312)ttG>ttC p.L104F NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.L65F NM_003827.3 NP_003818.2 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment protein, alpha 104 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3) 11 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) TTGCTCGCATCAAACAGTTAA 0.567000 19 216 0 0 0.001523 0 0 BTLA 151888 broad.mit.edu 37 3 112185019 112185019 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:112185019G>C ENST00000334529.5 - 5 1008 c.806C>G c.(805-807)tCa>tGa p.S269* BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Nonsense_Mutation_p.S221* NM_181780.3 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 269 T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TGCCAGTCTTGAGTTCGGTCC 0.418000 35 90 0 0 0.004289 0 0 PRKDC 5591 broad.mit.edu 37 8 48801695 48801695 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:48801695C>A ENST00000314191.2 - 34 4213 c.4157G>T c.(4156-4158)gGa>gTa p.G1386V PRKDC_ENST00000338368.3_Missense_Mutation_p.G1386V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1387 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGGACGTCTCCGATGTTGAA 0.463000 Non-homologous end-joining 18 54 2.4624e-09 3.36045e-09 0.008871 1 0 DNHD1 144132 broad.mit.edu 37 11 6592126 6592126 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:6592126C>T ENST00000254579.6 + 42 13948 c.13384C>T c.(13384-13386)Cgc>Tgc p.R4462C DNHD1_ENST00000527990.2_Missense_Mutation_p.R4462C NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4462 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCACGTGATTCGCCAAGACGA 0.627000 18 42 0 0 0.004990 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144194548 144194548 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:144194548G>A ENST00000295095.6 + 8 807 c.640G>A c.(640-642)Gaa>Aaa p.E214K AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 214 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CTCTAGCACTGAATTGCTAAG 0.333000 6 39 0 0 0.001984 0 0 USP49 25862 broad.mit.edu 37 6 41774070 41774070 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:41774070C>T ENST00000394253.3 - 3 981 c.652G>A c.(652-654)Gac>Aac p.D218N USP49_ENST00000373010.1_Missense_Mutation_p.D218N|USP49_ENST00000373006.1_Missense_Mutation_p.D218N|USP49_ENST00000297229.2_Missense_Mutation_p.D218N|USP49_ENST00000373009.3_Missense_Mutation_p.D218N Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 218 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.D218N(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) gggcccgcgtcgcggggcgTG 0.771000 8 12 0 0 0.003080 0 0 TCN2 6948 broad.mit.edu 37 22 31011378 31011378 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:31011378G>C ENST00000215838.3 + 5 1165 c.671G>C c.(670-672)aGa>aCa p.R224T TCN2_ENST00000407817.3_Missense_Mutation_p.R197T|TCN2_ENST00000405742.3_Missense_Mutation_p.R220T P20062 TCO2_HUMAN transcobalamin II 224 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGGCCATCAGAACAGTGCGA 0.562000 34 78 0 0 0.003271 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43937240 43937240 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:43937240C>T ENST00000282406.4 + 12 2188 c.2078C>T c.(2077-2079)tCa>tTa p.S693L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 693 Poly-Ser. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAAACTTGCTCATCTTCCAGT 0.398000 11 100 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141762977 141762977 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:141762977C>G ENST00000389484.3 - 15 3401 c.2430G>C c.(2428-2430)ttG>ttC p.L810F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 810 EGF-like 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L810F(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGGATAGCCAAGCAAAGTG 0.433000 TSP Lung(27;0.18) 9 72 0 0 0.006214 0 0 INTS5 80789 broad.mit.edu 37 11 62414702 62414702 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62414702G>C ENST00000330574.2 - 2 2902 c.2850C>G c.(2848-2850)ctC>ctG p.L950L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 950 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CATGCTCCCGGAGAAAACCCC 0.587000 49 198 0 0 0.003610 0 0 ADCK3 56997 broad.mit.edu 37 1 227149128 227149128 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:227149128C>T ENST00000366779.1 + 7 2813 c.42C>T c.(40-42)ggC>ggT p.G14G ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366777.3_Silent_p.G14G Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 14 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 TGGCTAAAGGCCTTGTCAAGC 0.642000 6 92 0 0 0.001168 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4451467 4451467 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:4451467G>A ENST00000254718.4 - 12 2001 c.1695C>T c.(1693-1695)ttC>ttT p.F565F MYBBP1A_ENST00000381556.2_Silent_p.F565F Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 565 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 GCTGCGCAGTGAAGGGTGTCA 0.662000 22 34 0 0 0.002299 0 0 TAB2 23118 broad.mit.edu 37 6 149700238 149700238 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:149700238G>C ENST00000367456.1 + 4 1764 c.1187G>C c.(1186-1188)gGa>gCa p.G396A TAB2_ENST00000286332.5_Missense_Mutation_p.G396A|TAB2_ENST00000538427.1_Missense_Mutation_p.G396A|TAB2_ENST00000392282.1_Missense_Mutation_p.G396A|TAB2_ENST00000536230.1_Missense_Mutation_p.G364A Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 396 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 GCTGCCACAGGAGATGAACAG 0.512000 10 45 0 0 0.008291 0 0 VPS13C 54832 broad.mit.edu 37 15 62283250 62283250 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:62283250G>T ENST00000261517.5 - 18 1600 c.1527C>A c.(1525-1527)ttC>ttA p.F509L VPS13C_ENST00000395898.3_Missense_Mutation_p.F466L|VPS13C_ENST00000249837.3_Missense_Mutation_p.F466L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F509L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 509 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CAATGGCAGTGAAGAGTTTAT 0.299000 21 97 2.32416e-17 3.26791e-17 0.002299 1 0 DHX32 55760 broad.mit.edu 37 10 127542652 127542652 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:127542652C>T ENST00000284690.3 - 4 1460 c.970G>A c.(970-972)Gaa>Aaa p.E324K DHX32_ENST00000368721.1_5'UTR|DHX32_ENST00000284688.6_Intron NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 324 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTTCTGTTTCATCGAGTGGC 0.388000 13 106 0 0 0.002450 0 0 TET1 80312 broad.mit.edu 37 10 70412289 70412289 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:70412289G>A ENST00000373644.4 + 6 4608 c.4399G>A c.(4399-4401)Gaa>Aaa p.E1467K NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1467 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AATAAGGATAGAAATAGTAGT 0.363000 19 46 0 0 0.002780 0 0 SCN2A 6326 broad.mit.edu 37 2 166231393 166231393 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:166231393G>C ENST00000375437.2 + 22 4461 c.4171G>C c.(4171-4173)Gag>Cag p.E1391Q SCN2A_ENST00000375427.2_Missense_Mutation_p.E1391Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1391Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1391Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1391 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGCTCTCATTGAGAGCAATCA 0.378000 22 35 0 0 0.002299 0 0 ASAP1 50807 broad.mit.edu 37 8 131200403 131200403 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:131200403G>A ENST00000357668.1 - 5 459 c.432C>T c.(430-432)atC>atT p.I144I ASAP1_ENST00000518721.1_Silent_p.I144I Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 144 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CCAAGGTGAAGATCACATTGT 0.353000 44 265 0 0 0.003610 0 0 MYO7B 4648 broad.mit.edu 37 2 128388376 128388376 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:128388376G>C ENST00000389524.4 + 35 4805 c.4752G>C c.(4750-4752)gaG>gaC p.E1584D MYO7B_ENST00000428314.1_Missense_Mutation_p.E1584D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E437D|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1584D Q6PIF6 MYO7B_HUMAN myosin VIIB 1584 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGTCACCAGAGAAGAGGAAGC 0.637000 5 45 0 0 0.000602 0 0 PROCR 10544 broad.mit.edu 37 20 33764071 33764071 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33764071G>A ENST00000216968.4 + 3 505 c.423G>A c.(421-423)gtG>gtA p.V141V EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 141 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GCTCCTTTGTGAGTTTCCGGC 0.602000 39 120 0 0 0.008740 0 0 SCN1A 6323 broad.mit.edu 37 2 166898905 166898905 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:166898905C>G ENST00000423058.2 - 12 2090 c.2073G>C c.(2071-2073)aaG>aaC p.K691N AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K663N|SCN1A_ENST00000303395.4_Missense_Mutation_p.K691N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K680N NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 691 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTGACCTTCTCTTTCTCATTT 0.368000 29 45 0 0 0.006320 0 0 CCDC81 60494 broad.mit.edu 37 11 86119250 86119250 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:86119250G>A ENST00000445632.2 + 9 1323 c.1051G>A c.(1051-1053)Gat>Aat p.D351N CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.D261N NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 351 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) AGAGATAGAAGATGAGAGACT 0.428000 11 35 0 0 0.000978 0 0 CCR7 1236 broad.mit.edu 37 17 38711414 38711414 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:38711414C>T ENST00000246657.2 - 3 779 c.717G>A c.(715-717)atG>atA p.M239I CCR7_ENST00000579344.1_Missense_Mutation_p.M233I NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 239 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) AACAGAAGCTCATGGCCAGCA 0.557000 11 47 0 0 0.008291 0 0 MRC2 9902 broad.mit.edu 37 17 60743976 60743976 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60743976C>G ENST00000303375.5 + 4 1257 c.855C>G c.(853-855)atC>atG p.I285M NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 285 C-type lectin 1. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 AGACCTACATCAACGGTGAGC 0.677000 4 18 0 0 0.000248 0 0 CERCAM 51148 broad.mit.edu 37 9 131190687 131190687 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:131190687C>T ENST00000372842.1 + 7 3783 c.639C>T c.(637-639)atC>atT p.I213I CERCAM_ENST00000372838.4_Silent_p.I291I Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 291 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TCCACCTGATCTTAGAAGCAC 0.612000 5 26 0 0 0.000602 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681063 76681063 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:76681063C>T ENST00000459742.1 + 0 58 TCACTGTATTCAGCTCCATCA 0.493000 7 97 0 0 0.004482 0 0 CACNA2D1 781 broad.mit.edu 37 7 81667445 81667445 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:81667445C>T ENST00000356860.3 - 11 1324 c.986G>A c.(985-987)gGa>gAa p.G329E CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G329E NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 329 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) atctgtaattcctttggctGT 0.353000 33 87 0 0 0.002096 0 0 SOS1 6654 broad.mit.edu 37 2 39250197 39250197 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39250197C>T ENST00000426016.1 - 11 1458 c.1372G>A c.(1372-1374)Gag>Aag p.E458K SOS1_ENST00000402219.2_Missense_Mutation_p.E458K|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E458K Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 458 PH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATGTGTCTCTCATGTTTGGCT 0.388000 Noonan syndrome 37 75 0 0 0.004878 0 0 PTPN3 5774 broad.mit.edu 37 9 112144604 112144604 + Missense_Mutation SNP C C T rs147420952 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:112144604C>T ENST00000412145.1 - 19 4666 c.2113G>A c.(2113-2115)Gag>Aag p.E705K PTPN3_ENST00000394827.3_Missense_Mutation_p.E304K|PTPN3_ENST00000262539.3_Missense_Mutation_p.E682K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E660K|PTPN3_ENST00000374541.2_Missense_Mutation_p.E836K NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 836 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGGACGGGCTCGCTGTCCACT 0.537000 8 26 0 0 0.003080 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593382 135593382 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:135593382G>T ENST00000535601.1 + 10 1900 c.1478G>T c.(1477-1479)gGa>gTa p.G493V HTATSF1_ENST00000218364.4_Missense_Mutation_p.G493V NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 493 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) CCCGTAAGAGGATCTGAAGAG 0.443000 18 23 1.99824e-07 2.69978e-07 0.004990 1 0 FPR2 2358 broad.mit.edu 37 19 52272587 52272587 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:52272587G>T ENST00000598776.1 + 2 1448 c.676G>T c.(676-678)Gcc>Tcc p.A226S FPR2_ENST00000598953.1_Missense_Mutation_p.A226S|FPR2_ENST00000340023.6_Missense_Mutation_p.A226S NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 226 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 GCTCATTGCAGCCAAGATCCA 0.498000 42 58 4.67007e-22 6.61796e-22 0.008740 1 0 TADA1 117143 broad.mit.edu 37 1 166845422 166845422 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:166845422C>A ENST00000367874.4 - 1 142 c.49G>T c.(49-51)Gag>Tag p.E17* NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 17 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 CCCAGGGCCTCGCTTAAGTTC 0.667000 9 47 2.74318e-10 3.77856e-10 0.006214 1 0 RERE 473 broad.mit.edu 37 1 8424172 8424172 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:8424172C>G ENST00000337907.3 - 16 2318 c.1684G>C c.(1684-1686)Gag>Cag p.E562Q RERE_ENST00000377464.1_Missense_Mutation_p.E294Q|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.E562Q|RERE_ENST00000476556.1_Missense_Mutation_p.E8Q NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 562 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCATCATCCTCTTCCTTGACG 0.587000 13 77 0 0 0.001855 0 0 ATR 545 broad.mit.edu 37 3 142168301 142168301 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:142168301C>G ENST00000350721.4 - 47 8026 c.7905G>C c.(7903-7905)caG>caC p.Q2635H ATR_ENST00000383101.3_Missense_Mutation_p.Q2571H NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2635 FATC. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CAAGATACATCTGGCATAGTA 0.333000 Other conserved DNA damage response genes 12 72 0 0 0.002450 0 0 NT5DC2 64943 broad.mit.edu 37 3 52558487 52558487 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:52558487C>T ENST00000307076.4 - 14 1962 c.1562G>A c.(1561-1563)tGa>tAa p.*521* STAB1_ENST00000321725.6_3'UTR|NT5DC2_ENST00000307092.4_Silent_p.*462*|NT5DC2_ENST00000459839.1_Silent_p.*533*|NT5DC2_ENST00000422318.2_Silent_p.*558* NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 0 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) AAGGTGCCCTCAGCGGATGTG 0.612000 98 110 0 0 0.003610 0 0 MPDZ 8777 broad.mit.edu 37 9 13224526 13224526 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:13224526G>A ENST00000319217.7 - 4 487 c.240C>T c.(238-240)ctC>ctT p.L80L MPDZ_ENST00000536827.1_Silent_p.L80L|MPDZ_ENST00000447879.1_Silent_p.L80L|MPDZ_ENST00000546205.1_Silent_p.L80L|MPDZ_ENST00000541718.1_Silent_p.L80L|MPDZ_ENST00000381022.2_Silent_p.L80L|MPDZ_ENST00000381015.4_Silent_p.L80L NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 80 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CAGCTGGGCTGAGATGAGGAA 0.378000 27 33 0 0 0.004656 0 0 PGK2 5232 broad.mit.edu 37 6 49754286 49754286 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:49754286C>T ENST00000304801.3 - 1 767 c.615G>A c.(613-615)gtG>gtA p.V205V NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 205 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GAAAGGGTCTCACTGGGTTTT 0.433000 19 80 0 0 0.006122 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 20 57 0 0 0.001523 0 0 TCP10L 140290 broad.mit.edu 37 21 33956596 33956596 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:33956596C>G ENST00000300258.3 - 2 132 c.19G>C c.(19-21)Gag>Cag p.E7Q AP000275.65_ENST00000553001.1_Intron|TCP10L_ENST00000472557.1_Intron NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCCCTGGCCTCGAGTTGACCT 0.647000 14 36 0 0 0.002450 0 0 MGA 23269 broad.mit.edu 37 15 42021428 42021428 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42021428C>T ENST00000219905.7 + 11 3905 c.3724C>T c.(3724-3726)Cga>Tga p.R1242* MGA_ENST00000570161.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1242*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1242* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1242 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.R1242*(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGCTCGAGTTCGAGTATATGA 0.413000 12 46 0 0 0.001368 0 0 GMPS 8833 broad.mit.edu 37 3 155633963 155633963 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:155633963C>T ENST00000496455.2 + 9 1529 c.1194C>T c.(1192-1194)atC>atT p.I398I GMPS_ENST00000295920.7_Silent_p.I299I NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGAGCTCATCAGAAAGTTGA 0.403000 T MLL AML 36 84 0 0 0.007835 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211515 50211515 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:50211515G>A ENST00000002829.3 + 4 788 c.304G>A c.(304-306)Gag>Aag p.E102K SEMA3F_ENST00000413852.1_Missense_Mutation_p.E34K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E102K NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 102 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACAGCGCATCGAGGAATGCGT 0.627000 38 37 0 0 0.004878 0 0 GTPBP3 84705 broad.mit.edu 37 19 17452360 17452360 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:17452360G>A ENST00000324894.8 + 9 1395 c.1327G>A c.(1327-1329)Gat>Aat p.D443N GTPBP3_ENST00000361619.5_Missense_Mutation_p.D465N|GTPBP3_ENST00000358792.7_Missense_Mutation_p.D475N|GTPBP3_ENST00000600625.1_Missense_Mutation_p.D422N|GTPBP3_ENST00000598038.1_3'UTR NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 443 tRNA modification mitochondrion GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 GGGTTGCCTGGATGCCCTCGG 0.667000 11 72 0 0 0.008291 0 0 FBXW8 26259 broad.mit.edu 37 12 117402587 117402587 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:117402587G>A ENST00000455858.2 + 5 638 c.565G>A c.(565-567)Gag>Aag p.E189K FBXW8_ENST00000309909.5_Missense_Mutation_p.E255K NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 255 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CGAGGAGGATGAGCCTGGAAT 0.522000 19 176 0 0 0.008871 0 0 MCM6 4175 broad.mit.edu 37 2 136626327 136626327 + Silent SNP G G A rs34276971 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:136626327G>A ENST00000264156.2 - 4 529 c.469C>T c.(469-471)Ctg>Ttg p.L157L NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 157 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCCAAGCACAGAAAAGTTCCG 0.517000 41 99 0 0 0.006230 0 0 NCR1 9437 broad.mit.edu 37 19 55420603 55420603 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:55420603G>A ENST00000594765.1 + 4 380 c.e4-1 NCR1_ENST00000338835.5_Splice_Site|NCR1_ENST00000291890.4_Splice_Site|NCR1_ENST00000447255.1_Splice_Site|NCR1_ENST00000350790.5_Splice_Site|NCR1_ENST00000357397.5_Splice_Site|NCR1_ENST00000598576.1_Splice_Site O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) TTCTCTCATAGAAATGTATGA 0.493000 5 65 0 0 0.001168 0 0 NCAPG2 54892 broad.mit.edu 37 7 158437065 158437065 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:158437065G>C ENST00000409339.3 - 27 3409 c.3296C>G c.(3295-3297)tCa>tGa p.S1099* NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000541468.1_Nonsense_Mutation_p.S553*|NCAPG2_ENST00000275830.10_Nonsense_Mutation_p.S844*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.S1099* NM_001281933.1 NP_001268862.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 1099 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CCTCACTTTTGAGCTTTTATG 0.358000 21 145 0 0 0.002299 0 0 NOX1 27035 broad.mit.edu 37 X 100118475 100118475 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:100118475G>A ENST00000372966.3 - 3 456 c.251C>T c.(250-252)tCa>tTa p.S84L NOX1_ENST00000372964.1_Splice_Site_p.S84L|NOX1_ENST00000372960.4_Intron|NOX1_ENST00000217885.5_Splice_Site_p.S84L NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 84 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 GGGACTCACTGAGCAGGTGCC 0.532000 6 21 0 0 0.003080 0 0 NUSAP1 51203 broad.mit.edu 37 15 41648287 41648287 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:41648287G>T ENST00000260359.6 + 5 718 c.454G>T c.(454-456)Gat>Tat p.D152Y NUSAP1_ENST00000450592.2_Missense_Mutation_p.D144Y|NUSAP1_ENST00000560747.1_Missense_Mutation_p.D166Y|NUSAP1_ENST00000414849.2_Missense_Mutation_p.D167Y|NUSAP1_ENST00000559596.1_Missense_Mutation_p.D167Y|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560177.1_Missense_Mutation_p.D166Y|NUSAP1_ENST00000450318.1_Missense_Mutation_p.D167Y NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7 NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 167 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 13 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) TCTCTACACAGATGAGTCATC 0.358000 5 20 0.00198382 0.00261291 0.001984 1 0 INPP5F 22876 broad.mit.edu 37 10 121586615 121586615 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:121586615C>G ENST00000361976.2 + 20 2888 c.2722C>G c.(2722-2724)Ctt>Gtt p.L908V INPP5F_ENST00000369080.3_Missense_Mutation_p.L298V NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 908 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) GTCCCAGTCTCTTAGCAGCAC 0.488000 14 68 0 0 0.001855 0 0 GABRE 2564 broad.mit.edu 37 X 151138714 151138714 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:151138714G>A ENST00000370325.1 - 2 270 c.217C>T c.(217-219)Cgc>Tgc p.R73C GABRE_ENST00000370328.3_Missense_Mutation_p.R73C|GABRE_ENST00000393914.3_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 73 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R73G(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGGATGCGAGAGGCTTCT 0.547000 24 101 0 0 0.004656 0 0 SMR3A 26952 broad.mit.edu 37 4 71232530 71232530 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:71232530G>A ENST00000226460.4 + 3 320 c.224G>A c.(223-225)aGa>aAa p.R75K NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 75 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) GGTCCAGGGAGAATCCCACCA 0.537000 27 173 0 0 0.007291 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849026 98849026 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:98849026G>A ENST00000554295.1 - 0 1897 NR_033801.1 GCGGGGAGCCGCTGTGTCTCC 0.602000 5 15 0 0 0.000602 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934854 113934854 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:113934854G>C ENST00000335953.4 + 2 1212 c.832G>C c.(832-834)Gag>Cag p.E278Q ZBTB16_ENST00000392996.2_Missense_Mutation_p.E278Q NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 278 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AAGAGGCAAAGAGGGGCCTGG 0.632000 8 41 0 0 0.004482 0 0 ZNF687 57592 broad.mit.edu 37 1 151262612 151262612 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262612C>A ENST00000368879.2 + 7 3077 c.2979C>A c.(2977-2979)ttC>ttA p.F993L NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 993 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGAAAAAGTTCCCCTGTCGCC 0.612000 14 95 5.8336e-16 8.16001e-16 0.003271 1 0 FCRL5 83416 broad.mit.edu 37 1 157514314 157514314 + Silent SNP C C T rs112294248 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:157514314C>T ENST00000361835.3 - 5 739 c.582G>A c.(580-582)ctG>ctA p.L194L FCRL5_ENST00000368191.3_Silent_p.L109L|FCRL5_ENST00000356953.4_Silent_p.L194L|FCRL5_ENST00000368189.3_Silent_p.L194L|FCRL5_ENST00000368190.3_Silent_p.L194L NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 194 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGCTGGCTCTCAGCACTGGAC 0.557000 35 71 0 0 0.006230 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603594 28603594 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:28603594G>A ENST00000533150.1 - 3 1782 c.666C>T c.(664-666)ttC>ttT p.F222F SULT1A2_ENST00000335715.4_Silent_p.F255F|SULT1A2_ENST00000395630.1_Silent_p.F255F P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 255 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 CTTTCCTCATGAAGGGGGAGA 0.602000 45 152 0 0 0.003610 0 0 ABCB8 11194 broad.mit.edu 37 7 150732745 150732745 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:150732745G>A ENST00000358849.4 + 6 936 c.843G>A c.(841-843)ctG>ctA p.L281L ABCB8_ENST00000477719.1_Silent_p.L281L|ABCB8_ENST00000477092.1_Silent_p.L281L|ABCB8_ENST00000498578.1_Silent_p.L281L|ABCB8_ENST00000542328.1_Silent_p.L193L|ABCB8_ENST00000356058.4_Silent_p.L318L|ABCB8_ENST00000297504.6_Silent_p.L298L NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 298 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTGCTGCTGATGGTGGCCA 0.652000 35 76 0 0 0.002836 0 0 HPS5 11234 broad.mit.edu 37 11 18309162 18309162 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:18309162G>A ENST00000396253.3 - 17 2757 c.2295C>T c.(2293-2295)atC>atT p.I765I HPS5_ENST00000349215.3_Silent_p.I879I|HPS5_ENST00000438420.2_Silent_p.I765I|HPS5_ENST00000352460.3_5'UTR NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 879 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AAAGTTGTATGATATCCGATG 0.393000 Hermansky-Pudlak syndrome 20 50 0 0 0.007413 0 0 RNF34 80196 broad.mit.edu 37 12 121858500 121858500 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:121858500T>G ENST00000361234.5 + 5 1019 c.847T>G c.(847-849)Tat>Gat p.Y283D RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Missense_Mutation_p.Y283D|RNF34_ENST00000392465.3_Missense_Mutation_p.Y284D NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 283 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) TTTTGTCAACTATTCTGGCTG 0.418000 5 149 0 0 0.001168 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80604427 80604427 + Silent SNP C C T rs149561750 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:80604427C>T ENST00000254037.2 + 2 3587 c.432C>T c.(430-432)ccC>ccT p.P144P ZCCHC9_ENST00000407610.3_Silent_p.P144P|ZCCHC9_ENST00000380199.5_Silent_p.P144P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Silent_p.P144P Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 144 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) CAGATTGCCCCGCCGCCCTTG 0.473000 20 51 0 0 0.001523 0 0 THBD 7056 broad.mit.edu 37 20 23028421 23028421 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:23028421C>T ENST00000377103.2 - 1 1957 c.1721G>A c.(1720-1722)aGa>aAa p.R574K NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 574 blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CGCTCAGAGTCTCTGCGGCGT 0.647000 6 8 0 0 0.001168 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473774 145473774 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:145473774C>T ENST00000323397.4 + 4 1739 c.446C>T c.(445-447)tCg>tTg p.S149L NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 149 endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACCGATACCTCGCCCTCAGGC 0.652000 11 47 0 0 0.008291 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73078785 73078785 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73078785G>A ENST00000263674.3 + 21 6502 c.6152G>A c.(6151-6153)cGa>cAa p.R2051Q NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 2051 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACTGTGGGTCGAGACGACAGC 0.632000 13 82 0 0 0.004007 0 0 SIX3 6496 broad.mit.edu 37 2 45169727 45169727 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:45169727C>T ENST00000260653.3 + 1 826 c.484C>T c.(484-486)Cac>Tac p.H162Y NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 162 visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAAGGAGTCTCACGGCAAGCT 0.662000 6 21 0 0 0.001984 0 0 CELSR1 9620 broad.mit.edu 37 22 46759985 46759985 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:46759985C>T ENST00000262738.3 - 34 8942 c.8943G>A c.(8941-8943)aaG>aaA p.K2981K NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2981 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCCCAGGGCTCTTGACTGTGA 0.687000 22 50 0 0 0.002299 0 0 SCN2A 6326 broad.mit.edu 37 2 166198839 166198839 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:166198839C>T ENST00000375437.2 + 15 2712 c.2422C>T c.(2422-2424)Ctc>Ttc p.L808F SCN2A_ENST00000375427.2_Missense_Mutation_p.L808F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L808F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L808F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 808 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGAAATGTTTCTCAAGATAAT 0.343000 24 51 0 0 0.004656 0 0 IFT122 55764 broad.mit.edu 37 3 129231193 129231193 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:129231193C>G ENST00000296266.3 + 25 3270 c.3078C>G c.(3076-3078)ttC>ttG p.F1026L IFT122_ENST00000349441.2_Missense_Mutation_p.F865L|IFT122_ENST00000504021.1_Missense_Mutation_p.F852L|IFT122_ENST00000507564.1_Missense_Mutation_p.F968L|IFT122_ENST00000348417.2_Missense_Mutation_p.F975L|IFT122_ENST00000431818.2_Missense_Mutation_p.F825L|IFT122_ENST00000440957.2_Missense_Mutation_p.F766L|IFT122_ENST00000347300.2_Missense_Mutation_p.F916L NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 975 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 AAACTCTTTTCAACATCTCCA 0.537000 45 201 0 0 0.003610 0 0 BCL9 607 broad.mit.edu 37 1 147096327 147096327 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:147096327G>A ENST00000234739.3 + 10 4588 c.3848G>A c.(3847-3849)aGa>aAa p.R1283K NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1283 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CAAGCCCCCAGAATGGGACTA 0.587000 T """IGH@, IGL@""" B-ALL 9 44 0 0 0.004482 0 0 SEMA4A 64218 broad.mit.edu 37 1 156126258 156126258 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:156126258G>C ENST00000368285.3 + 3 460 c.193G>C c.(193-195)Gac>Cac p.D65H SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.D65H|SEMA4A_ENST00000368282.1_Missense_Mutation_p.D65H|SEMA4A_ENST00000368284.1_5'UTR NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 65 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CCAGGATTTTGACACTCTGCT 0.542000 28 60 0 0 0.008361 0 0 IMPG2 50939 broad.mit.edu 37 3 100961751 100961751 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:100961751G>A ENST00000193391.7 - 14 2990 c.2803C>T c.(2803-2805)Ctg>Ttg p.L935L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 935 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TAGGGAACCAGCTACAATATA 0.403000 25 69 0 0 0.003954 0 0 GAS2L2 246176 broad.mit.edu 37 17 34076186 34076186 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:34076186G>C ENST00000254466.6 - 3 705 c.678C>G c.(676-678)gtC>gtG p.V226V GAS2L2_ENST00000587565.1_Silent_p.V210V NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 226 GAR. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAGACACTTTGACCATGGAGA 0.592000 5 29 0 0 0.000602 0 0 LAX1 54900 broad.mit.edu 37 1 203734754 203734754 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:203734754C>G ENST00000442561.2 + 1 451 c.61C>G c.(61-63)Ctg>Gtg p.L21V LAX1_ENST00000367217.5_Intron NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 21 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GTCCAGCACTCTGCATGTGAC 0.557000 6 36 0 0 0.001984 0 0 SRCAP 10847 broad.mit.edu 37 16 30723652 30723652 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:30723652C>G ENST00000262518.4 + 13 2270 c.1885C>G c.(1885-1887)Ctg>Gtg p.L629V SRCAP_ENST00000344771.4_Missense_Mutation_p.L629V|SRCAP_ENST00000395059.2_Missense_Mutation_p.L629V NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 629 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCTAGACTGGCTGGTTACCAT 0.522000 6 155 0 0 0.001168 0 0 CCDC28B 79140 broad.mit.edu 37 1 32669900 32669900 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:32669900G>C ENST00000421922.2 + 4 545 c.445G>C c.(445-447)Gag>Cag p.E149Q CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.E149Q Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 149 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAAGAGGAAGAGGATGGGGT 0.582000 9 55 0 0 0.006214 0 0 SPARCL1 8404 broad.mit.edu 37 4 88401595 88401595 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:88401595C>G ENST00000418378.1 - 10 2317 c.1746G>C c.(1744-1746)aaG>aaC p.K582N SPARCL1_ENST00000282470.6_Missense_Mutation_p.K582N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.K457N NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 582 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding p.N584fs*25(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) GGTAGTTTTTCTTAAAGTCCC 0.423000 27 81 0 0 0.001786 0 0 CENPE 1062 broad.mit.edu 37 4 104079969 104079969 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:104079969C>T ENST00000265148.3 - 23 2765 c.2676G>A c.(2674-2676)ctG>ctA p.L892L CENPE_ENST00000380026.3_Silent_p.L867L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 892 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ATTGTTCCTTCAGCTGTTCCA 0.348000 22 49 0 0 0.001882 0 0 LONP1 9361 broad.mit.edu 37 19 5694465 5694465 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:5694465G>A ENST00000360614.3 - 15 2410 c.2253C>T c.(2251-2253)ttC>ttT p.F751F LONP1_ENST00000585374.1_Silent_p.F637F|LONP1_ENST00000540670.2_Silent_p.F555F|LONP1_ENST00000590729.1_Silent_p.F621F|LONP1_ENST00000593119.1_Silent_p.F687F NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 751 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTCCACGGTGAACACGGGCT 0.642000 5 63 0 0 0.001168 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42092064 42092064 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42092064G>T ENST00000457542.2 + 3 444 c.158G>T c.(157-159)aGa>aTa p.R53I MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R53I|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R53I|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R53I NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 53 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCTGGAGGCAGAGGACTTGCC 0.498000 61 169 4.79706e-38 6.83371e-38 0.003610 1 0 MLLT10 8028 broad.mit.edu 37 10 22002839 22002839 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:22002839C>T ENST00000377072.3 + 15 2234 c.1886C>T c.(1885-1887)tCa>tTa p.S629L MLLT10_ENST00000446906.2_Missense_Mutation_p.S613L|MLLT10_ENST00000307729.7_Missense_Mutation_p.S613L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S613L NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 629 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CTCTCTCCCTCAGCTGTGTCA 0.473000 T """MLL, PICALM, CDK6""" AL 20 78 0 0 0.001523 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808555 18808555 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:18808555C>T ENST00000400664.1 + 1 1132 c.1080C>T c.(1078-1080)ttC>ttT p.F360F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 360 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCGAGGCTTCAGCCGGAAGG 0.692000 5 23 0 0 0.003080 0 0 TET1 80312 broad.mit.edu 37 10 70412337 70412337 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:70412337C>G ENST00000373644.4 + 6 4656 c.4447C>G c.(4447-4449)Cca>Gca p.P1483A NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1483 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TCATGGGTGTCCAATTGCTAA 0.348000 12 46 0 0 0.001855 0 0 ST14 6768 broad.mit.edu 37 11 130059777 130059777 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:130059777C>T ENST00000278742.5 + 5 1002 c.584C>T c.(583-585)tCa>tTa p.S195L NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 195 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTGGTCACCTCAGTGGTGGCT 0.701000 18 85 0 0 0.008871 0 0 SAP130 79595 broad.mit.edu 37 2 128753985 128753985 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:128753985G>T ENST00000357702.5 - 11 1503 c.1372C>A c.(1372-1374)Ccc>Acc p.P458T SAP130_ENST00000259234.6_Missense_Mutation_p.P432T|SAP130_ENST00000259235.3_Missense_Mutation_p.P458T NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 458 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCGGAGATGGGAATCAGGCTA 0.562000 14 54 7.93312e-07 1.06651e-06 0.002450 1 0 NCAM2 4685 broad.mit.edu 37 21 22658708 22658708 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:22658708G>A ENST00000400546.1 + 4 706 c.457G>A c.(457-459)Gag>Aag p.E153K NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.E178K NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 153 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTATCATAATGAGGAAGTCAC 0.388000 9 63 0 0 0.000978 0 0 ARFRP1 10139 broad.mit.edu 37 20 62331869 62331869 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62331869C>T ENST00000359715.5 - 7 1098 c.532G>A c.(532-534)Gag>Aag p.E178K ARFRP1_ENST00000609142.1_3'UTR|ARFRP1_ENST00000607873.1_Missense_Mutation_p.E131K|ARFRP1_ENST00000324228.2_Missense_Mutation_p.E178K|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000440854.1_3'UTR Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) TCGATGCCCTCGCGCACCCCT 0.701000 18 55 0 0 0.006122 0 0 CAMKK1 84254 broad.mit.edu 37 17 3779565 3779565 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:3779565G>A ENST00000381771.2 - 11 1209 c.1062C>T c.(1060-1062)ttC>ttT p.F354F CAMKK1_ENST00000381769.2_Silent_p.F343F|CAMKK1_ENST00000158166.5_Silent_p.F354F|CAMKK1_ENST00000348335.2_Silent_p.F316F Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 316 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) CGGGGGCCATGAATGCTGGGG 0.627000 21 37 0 0 0.001882 0 0 FREM1 158326 broad.mit.edu 37 9 14805089 14805089 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:14805089C>T ENST00000380881.4 - 20 4154 c.3339G>A c.(3337-3339)ctG>ctA p.L1113L FREM1_ENST00000380880.3_Silent_p.L1112L|FREM1_ENST00000422223.2_Silent_p.L1112L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1112 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GTTCTATCCTCAGATGCCTGG 0.408000 52 64 0 0 0.003610 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224844 20224844 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:20224844C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA TTAGACCAGCCCCAGCACGAT 0.652000 7 223 0 0 0.008291 0 0 HOXA10 3206 broad.mit.edu 37 7 27211670 27211670 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:27211670G>T ENST00000283921.4 - 2 1080 c.1081C>A c.(1081-1083)Ctt>Att p.L361I RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|HOXA10_ENST00000396344.4_Missense_Mutation_p.L45I NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 361 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 TCTCGAGTAAGGTACATATTG 0.522000 75 696 1.52378e-38 2.17262e-38 0.003610 1 0 BLOC1S1 2647 broad.mit.edu 37 12 56113319 56113319 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56113319G>A ENST00000547076.1 + 4 669 c.154G>A c.(154-156)Gag>Aag p.E52K RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.E52K|BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.E130K|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.E102K P78537 BL1S1_HUMAN biogenesis of lysosomal organelles complex-1, subunit 1 130 cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex|lysosomal membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|prostate(1) 4 TCGGAGCATCGAGCTGGACAT 0.577000 14 58 0 0 0.004990 0 0 SKP1 6500 broad.mit.edu 37 5 133502935 133502935 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:133502935C>T ENST00000353411.6 - 3 281 c.e3-1 SKP1_ENST00000522855.1_Splice_Site|SKP1_ENST00000521216.1_Splice_Site|CTD-2410N18.5_ENST00000519718.1_Splice_Site|SKP1_ENST00000517625.1_Splice_Site|SKP1_ENST00000522552.1_Splice_Site NM_170679.2 NP_733779.1 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTCCCAAATCTAAGAAAACC 0.353000 12 69 0 0 0.000978 0 0 KCNT1 57582 broad.mit.edu 37 9 138657499 138657499 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:138657499G>A ENST00000298480.5 + 13 1304 c.1230G>A c.(1228-1230)acG>acA p.T410T KCNT1_ENST00000371757.2_Silent_p.T410T|KCNT1_ENST00000263604.3_Silent_p.T391T|KCNT1_ENST00000486577.2_Silent_p.T371T|KCNT1_ENST00000488444.2_Silent_p.T391T|KCNT1_ENST00000491806.2_Silent_p.T377T|KCNT1_ENST00000490355.2_Silent_p.T391T|KCNT1_ENST00000487664.1_Silent_p.T365T B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 410 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGTGCCCCACGGAGATGGATG 0.657000 5 10 0 0 0.000602 0 0 PCDH9 5101 broad.mit.edu 37 13 67802023 67802023 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:67802023C>A ENST00000544246.1 - 2 1241 c.550G>T c.(550-552)Ggg>Tgg p.G184W PCDH9_ENST00000328454.5_Missense_Mutation_p.G184W|PCDH9_ENST00000456367.1_Missense_Mutation_p.G184W|PCDH9_ENST00000377865.2_Missense_Mutation_p.G184W|PCDH9_ENST00000377861.3_Missense_Mutation_p.G184W NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACACTCTGCCCATTTAACAAT 0.428000 7 141 0.00198382 0.00261291 0.001984 1 0 PHF1 5252 broad.mit.edu 37 6 33383754 33383754 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33383754G>C ENST00000374516.3 + 15 1854 c.1583G>C c.(1582-1584)gGa>gCa p.G528A PHF1_ENST00000374512.3_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 528 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) ACTGGGGGAGGAGTCCGAGGT 0.617000 22 123 0 0 0.002780 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904609 73904609 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:73904609C>G ENST00000342056.2 + 15 2726 c.2328C>G c.(2326-2328)atC>atG p.I776M KCNQ5_ENST00000402622.2_Missense_Mutation_p.I767M|KCNQ5_ENST00000370398.1_Missense_Mutation_p.I757M|KCNQ5_ENST00000403813.2_Missense_Mutation_p.I748M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.I758M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.I757M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.I647M NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 757 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TCCCAGCCATCAAGCATCTGC 0.537000 17 34 0 0 0.007413 0 0 FNBP4 23360 broad.mit.edu 37 11 47744605 47744605 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47744605G>C ENST00000263773.5 - 15 2740 c.2728C>G c.(2728-2730)Cct>Gct p.P910A NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 910 Pro-rich. NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 ggaggaggaggaggtggtggt 0.493000 6 6 0 0 0.001168 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971003 21971003 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:21971003C>T ENST00000304494.5 - 2 625 c.355G>A c.(355-357)Gag>Aag p.E119K CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.*174*|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 119 E -> Q (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCAGCTCCTCAGCCAGGTCC 0.726000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 21 0 0 0.001855 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958762 51958762 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:51958762T>C ENST00000321424.3 - 4 1027 c.961A>G c.(961-963)Agg>Ggg p.R321G SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R228G|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R212G NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 321 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCTTCATCCCTCACGTGCACT 0.642000 6 41 0 0 0.001168 0 0 KANSL1 284058 broad.mit.edu 37 17 44144094 44144094 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:44144094G>A ENST00000262419.6 - 6 2127 c.1657C>T c.(1657-1659)Cag>Tag p.Q553* KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.Q553* NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 553 MLL1 complex protein binding AAGACAGGCTGAAGACTATAC 0.398000 12 35 0 0 0.001368 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37374019 37374019 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:37374019C>G ENST00000233057.4 - 4 539 c.217G>C c.(217-219)Gag>Cag p.E73Q EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E73Q|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E73Q NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 73 DRBM 1. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TTAAGTATCTCAACAGCTAAT 0.343000 26 64 0 0 0.003954 0 0 ABCA8 10351 broad.mit.edu 37 17 66925208 66925208 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66925208G>A ENST00000269080.2 - 8 1244 c.1107C>T c.(1105-1107)ttC>ttT p.F369F ABCA8_ENST00000430352.2_Silent_p.F369F|ABCA8_ENST00000586539.1_Silent_p.F369F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 369 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTCCAAGCATGAAGGCAAAGG 0.458000 24 76 0 0 0.006320 0 0 NCAN 1463 broad.mit.edu 37 19 19334931 19334931 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:19334931C>G ENST00000252575.6 + 4 676 c.577C>G c.(577-579)Cgg>Ggg p.R193G NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TGCAGCCCCTCGGCATCTACA 0.602000 11 41 0 0 0.008291 0 0 SLC15A2 6565 broad.mit.edu 37 3 121630438 121630438 + Missense_Mutation SNP C C G rs138471341 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:121630438C>G ENST00000489711.1 + 4 741 c.353C>G c.(352-354)tCc>tGc p.S118C SLC15A2_ENST00000295605.2_Intron NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 118 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.S118F(1) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATCTATCTCTCCTTGGTGTAT 0.418000 22 30 0 0 0.003330 0 0 DHX29 54505 broad.mit.edu 37 5 54585110 54585110 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54585110C>T ENST00000251636.5 - 8 1202 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 352 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTCTCTTCTTCAGTAGCAGCT 0.313000 11 86 0 0 0.000978 0 0 KIAA0355 9710 broad.mit.edu 37 19 34791501 34791501 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:34791501G>A ENST00000299505.6 + 2 996 c.123G>A c.(121-123)ctG>ctA p.L41L NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 41 p.L41L(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GCCGAGCACTGAGTGCTCCCC 0.637000 24 65 0 0 0.002299 0 0 OR10J3 441911 broad.mit.edu 37 1 159284102 159284102 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:159284102G>A ENST00000332217.5 - 1 347 c.348C>T c.(346-348)ctC>ctT p.L116L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CCATGACTGTGAGCAGGAAGC 0.507000 15 79 0 0 0.004007 0 0 DCAF12 25853 broad.mit.edu 37 9 34107359 34107359 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:34107359C>T ENST00000361264.4 - 3 879 c.538G>A c.(538-540)Gat>Aat p.D180N DCAF12_ENST00000463286.1_5'UTR NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 180 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 AAACTTACATCTCCTACACAC 0.502000 29 73 0 0 0.006320 0 0 USPL1 10208 broad.mit.edu 37 13 31232711 31232711 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:31232711C>T ENST00000255304.4 + 9 2839 c.2497C>T c.(2497-2499)Cca>Tca p.P833S NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 833 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AGCAGGCCCTCCATCGTCTAA 0.502000 14 97 0 0 0.004990 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559892 44559892 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:44559892C>G ENST00000332567.4 - 1 2096 c.1744G>C c.(1744-1746)Gac>Cac p.D582H KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 582 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CGTAATTCGTCTGTCTCTCTA 0.517000 8 77 0 0 0.004482 0 0 SLIT3 6586 broad.mit.edu 37 5 168119694 168119694 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:168119694C>T ENST00000519560.1 - 29 3513 c.3094G>A c.(3094-3096)Gac>Aac p.D1032N SLIT3_ENST00000332966.8_Missense_Mutation_p.D1039N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D1032N NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1032 EGF-like 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCACCTCGTCGCATAGCTCA 0.577000 15 36 0 0 0.004007 0 0 LSR 51599 broad.mit.edu 37 19 35758329 35758329 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:35758329G>A ENST00000602122.1 + 8 2033 c.1546G>A c.(1546-1548)Gac>Aac p.D516N LSR_ENST00000354900.3_Missense_Mutation_p.D517N|LSR_ENST00000427250.1_Missense_Mutation_p.D380N|LSR_ENST00000347609.4_Missense_Mutation_p.D478N|LSR_ENST00000360798.3_Missense_Mutation_p.D468N|LSR_ENST00000361790.3_Missense_Mutation_p.D536N Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 536 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CGACCTCTATGACCAAGACGA 0.687000 9 27 0 0 0.004482 0 0 GANC 2595 broad.mit.edu 37 15 42584941 42584941 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42584941C>T ENST00000318010.8 + 5 578 c.338C>T c.(337-339)tCa>tTa p.S113L GANC_ENST00000566442.1_Missense_Mutation_p.S113L NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 113 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGGCTGATTTCATGCTCTGGG 0.413000 29 70 0 0 0.005443 0 0 OAZ2 4947 broad.mit.edu 37 15 64983649 64983649 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:64983649G>C ENST00000326005.6 - 3 393 c.161C>G c.(160-162)tCa>tGa p.S54* OAZ2_ENST00000560258.2_Nonsense_Mutation_p.S54*|OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000559753.1_Intron O95190 OAZ2_HUMAN ornithine decarboxylase antizyme 2 54 polyamine metabolic process|regulation of cellular amino acid metabolic process cytosol|nucleus ornithine decarboxylase inhibitor activity|protein binding L-Ornithine(DB00129) TATTAGAGCTGAGAGAGAAGG 0.572000 3 7 0 0 0.000248 0 0 FTH1 2495 broad.mit.edu 37 11 61732918 61732918 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:61732918C>G ENST00000273550.7 - 2 418 c.184G>C c.(184-186)Gag>Cag p.E62Q FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_5'UTR|FTH1_ENST00000526640.1_Missense_Mutation_p.E32Q|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 62 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TCCCTCTCCTCATGAGATTGG 0.443000 30 212 0 0 0.008361 0 0 PGRMC2 10424 broad.mit.edu 37 4 129193566 129193566 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:129193566C>G ENST00000520121.1 - 2 1563 c.597G>C c.(595-597)ttG>ttC p.L199F PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503588.1_Missense_Mutation_p.L43F|PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503872.1_5'UTR|PGRMC2_ENST00000296425.5_Missense_Mutation_p.L175F NM_006320.4 NP_006311.2 progesterone receptor membrane component 2 GTACTGCATTCAAATCTGAGA 0.353000 5 39 0 0 0.001984 0 0 TBC1D15 64786 broad.mit.edu 37 12 72316827 72316827 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:72316827C>T ENST00000550746.1 + 18 1983 c.1919C>T c.(1918-1920)tCa>tTa p.S640L TBC1D15_ENST00000319106.8_Missense_Mutation_p.S631L|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S623L|TBC1D15_ENST00000393309.3_Missense_Mutation_p.S394L NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 640 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACACCAGATTCAGACGTTGGT 0.428000 19 142 0 0 0.006122 0 0 GNA13 10672 broad.mit.edu 37 17 63052692 63052692 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:63052692G>A ENST00000439174.2 - 1 265 c.20C>T c.(19-21)tCg>tTg p.S7L NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 7 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 CACGGACCGCGACGGCAGGAA 0.731000 94 114 0 0 0.003610 0 0 COLEC11 78989 broad.mit.edu 37 2 3660949 3660949 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:3660949G>C ENST00000403096.3 + 2 592 c.101G>C c.(100-102)aGa>aCa p.R34T COLEC11_ENST00000349077.4_Missense_Mutation_p.R60T|COLEC11_ENST00000418971.2_Missense_Mutation_p.R74T|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000236693.7_Missense_Mutation_p.E31Q|COLEC11_ENST00000382062.2_Missense_Mutation_p.R60T|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402922.1_Missense_Mutation_p.R34T|COLEC11_ENST00000487365.1_Intron NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 60 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CGGCCTGGAAGAGTCGGCCCC 0.647000 4 17 0 0 0.000602 0 0 LPHN3 23284 broad.mit.edu 37 4 62542622 62542622 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:62542622C>T ENST00000512091.2 + 5 1095 c.348C>T c.(346-348)taC>taT p.Y116Y LPHN3_ENST00000506746.1_Silent_p.Y184Y|LPHN3_ENST00000507625.1_Silent_p.Y184Y|LPHN3_ENST00000507164.1_Silent_p.Y184Y|LPHN3_ENST00000508946.1_Silent_p.Y116Y|LPHN3_ENST00000514996.1_Silent_p.Y116Y|LPHN3_ENST00000511324.1_Silent_p.Y184Y|LPHN3_ENST00000506700.1_Silent_p.Y116Y|LPHN3_ENST00000514591.1_Silent_p.Y116Y|LPHN3_ENST00000508693.1_Silent_p.Y184Y|LPHN3_ENST00000514157.1_Silent_p.Y116Y|LPHN3_ENST00000545650.1_Silent_p.Y116Y|LPHN3_ENST00000506720.1_Silent_p.Y184Y|LPHN3_ENST00000504896.1_Silent_p.Y116Y|LPHN3_ENST00000509896.1_Silent_p.Y184Y Q9HAR2 LPHN3_HUMAN latrophilin 3 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCTATAAATACCTTGAAGTGC 0.398000 12 274 0 0 0.001368 0 0 FAT1 2195 broad.mit.edu 37 4 187521209 187521209 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187521209C>G ENST00000441802.2 - 22 12155 c.11946G>C c.(11944-11946)ttG>ttC p.L3982F NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3982 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCTGCCCATTCAAATAAATGG 0.498000 HNSCC(5;0.00058) 60 114 0 0 0.003610 0 0 KHNYN 23351 broad.mit.edu 37 14 24901328 24901328 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:24901328C>G ENST00000251343.5 + 3 1000 c.861C>G c.(859-861)ctC>ctG p.L287L KHNYN_ENST00000553935.1_Silent_p.L287L|KHNYN_ENST00000556842.1_Silent_p.L287L O15037 KHNYN_HUMAN KH and NYN domain containing 287 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 AAGTGGCCCTCAGGCCACAGT 0.627000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 46 0 0 0.004482 0 0 GSAP 54103 broad.mit.edu 37 7 76984619 76984619 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:76984619G>A ENST00000257626.7 - 16 1327 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L NM_017439.3 NP_059135.2 gamma-secretase activating protein GTGTTCTGCAGAAGCTGTAAT 0.502000 42 122 0 0 0.006230 0 0 CSTF3 1479 broad.mit.edu 37 11 33108639 33108639 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:33108639C>A ENST00000323959.4 - 18 1829 c.1690G>T c.(1690-1692)Gct>Tct p.A564S TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 564 Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ATAGAAGGAGCTACAACTGGG 0.433000 11 337 1.5842e-08 2.15112e-08 0.001855 1 0 ZNF812 729648 broad.mit.edu 37 19 9801562 9801562 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9801562G>A ENST00000457674.2 - 5 1135 c.617C>T c.(616-618)tCa>tTa p.S206L ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTTAGGTGTGAGGAATGAGT 0.373000 8 21 0 0 0.003080 0 0 DEPDC5 9681 broad.mit.edu 37 22 32188758 32188758 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:32188758C>G ENST00000400246.1 + 12 864 c.722C>G c.(721-723)tCa>tGa p.S241* DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382112.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000536766.1_Nonsense_Mutation_p.S213*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.S241* O75140 DEPD5_HUMAN DEP domain containing 5 241 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AACCGAGCCTCAATTCGACAG 0.363000 24 63 0 0 0.005443 0 0 SNX25 83891 broad.mit.edu 37 4 186244769 186244769 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:186244769G>C ENST00000504273.1 + 9 1366 c.1072G>C c.(1072-1074)Gaa>Caa p.E358Q SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E358Q Q9H3E2 SNX25_HUMAN sorting nexin 25 358 RGS. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) ACTTTACAAAGAAATTCAGCA 0.328000 20 31 0 0 0.008871 0 0 BMS1P20 96610 broad.mit.edu 37 22 22673515 22673515 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:22673515C>G ENST00000426066.1 + 0 1209 IGLV5-52_ENST00000390289.2_RNA NR_027293.1 CTGCGTATCTCTGGGCTCCAG 0.522000 59 179 0 0 0.003610 0 0 ZNF687 57592 broad.mit.edu 37 1 151262619 151262619 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262619C>A ENST00000368879.2 + 7 3084 c.2986C>A c.(2986-2988)Cgc>Agc p.R996S NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 996 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTTCCCCTGTCGCCTGTGTGA 0.592000 13 94 1.90571e-15 2.6634e-15 0.004289 1 0 HOXC11 3227 broad.mit.edu 37 12 54367563 54367563 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54367563G>T ENST00000546378.1 + 1 654 c.538G>T c.(538-540)Gag>Tag p.E180* HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Nonsense_Mutation_p.E180* O43248 HXC11_HUMAN homeobox C11 180 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 GGCCAAGGGGGAGCCCGAGGC 0.721000 T NUP98 AML 8 33 0.000157383 0.000208475 0.003080 1 0 ATRX 546 broad.mit.edu 37 X 76888758 76888758 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:76888758G>C ENST00000373344.5 - 19 5285 c.5071C>G c.(5071-5073)Caa>Gaa p.Q1691E ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q1653E NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1691 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCCTTCCTTGAGCAAGATTT 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 168 127 0 0 0.003610 0 0 FRY 10129 broad.mit.edu 37 13 32811517 32811517 + Splice_Site SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:32811517T>G ENST00000380250.3 + 44 6308 c.5812T>G c.(5812-5814)Tct>Gct p.S1938A NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1938 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TATACCCAGCTCTTCCTCACC 0.453000 10 42 0 0 0.008291 0 0 NSD1 64324 broad.mit.edu 37 5 176637917 176637917 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:176637917G>A ENST00000439151.2 + 5 2562 c.2517G>A c.(2515-2517)ctG>ctA p.L839L NSD1_ENST00000354179.4_Silent_p.L570L|NSD1_ENST00000347982.4_Silent_p.L570L|NSD1_ENST00000361032.4_Silent_p.L736L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 839 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TAAAACTACTGAACAATATGC 0.408000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 16 52 0 0 0.004007 0 0 FAM13A 10144 broad.mit.edu 37 4 89709016 89709016 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:89709016G>T ENST00000264344.5 - 10 1366 c.1159C>A c.(1159-1161)Caa>Aaa p.Q387K FAM13A_ENST00000508369.1_Missense_Mutation_p.Q61K|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q33K|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q61K|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q47K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 387 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TCTGAACTTTGACCTCCAGAG 0.463000 13 94 1.05317e-09 1.44455e-09 0.002450 1 0 ZNF687 57592 broad.mit.edu 37 1 151262637 151262637 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262637T>C ENST00000368879.2 + 7 3102 c.3004T>C c.(3004-3006)Ttc>Ctc p.F1002L NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1002 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGAGCGCTCCTTCTGCTCCGC 0.592000 13 96 0 0 0.003755 0 0 TMEM11 8834 broad.mit.edu 37 17 21102080 21102080 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:21102080C>G ENST00000317635.5 - 2 607 c.136G>C c.(136-138)Gag>Cag p.E46Q TMEM11_ENST00000584432.1_5'UTR NM_003876.2 NP_003867.1 P17152 TMM11_HUMAN transmembrane protein 11 46 mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 AGCTCGTACTCAAACTGGTCT 0.557000 14 45 0 0 0.002450 0 0 FTH1 2495 broad.mit.edu 37 11 61732561 61732561 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:61732561C>G ENST00000273550.7 - 3 519 c.285G>C c.(283-285)gaG>gaC p.E95D FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.E25D|FTH1_ENST00000526640.1_Missense_Mutation_p.E65D|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 95 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TCAGCCCGCTCTCCCAGTCAT 0.448000 33 221 0 0 0.002836 0 0 RNF130 55819 broad.mit.edu 37 5 179390562 179390562 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:179390562C>T ENST00000521389.1 - 8 1568 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K RNF130_ENST00000261947.4_Intron|RNF130_ENST00000522208.2_Intron NM_018434.4 NP_060904.2 Q86XS8 GOLI_HUMAN ring finger protein 130 385 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATAAACCATTCTTCTGTTGAC 0.448000 8 11 0 0 0.008291 0 0 MSL2 55167 broad.mit.edu 37 3 135913868 135913868 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:135913868C>T ENST00000309993.2 - 1 820 c.88G>A c.(88-90)Gag>Aag p.E30K NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 30 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 CTGTTAATCTCAGTAAACGCC 0.493000 99 160 0 0 0.003610 0 0 JUNB 3726 broad.mit.edu 37 19 12903392 12903392 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12903392C>G ENST00000302754.4 + 1 1083 c.807C>G c.(805-807)atC>atG p.I269M NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 269 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 AAGAGCGCATCAAAGTGGAGC 0.682000 2 8 0 0 0.004672 0 0 PRSS54 221191 broad.mit.edu 37 16 58319877 58319877 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:58319877C>T ENST00000219301.4 - 5 880 c.486G>A c.(484-486)caG>caA p.Q162Q PRSS54_ENST00000543437.1_Silent_p.Q63Q|PRSS54_ENST00000567164.1_Silent_p.Q162Q NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 162 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCCAGCAGTTCTGCAAGACTG 0.547000 28 77 0 0 0.005443 0 0 CPQ 10404 broad.mit.edu 37 8 98155285 98155285 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:98155285C>T ENST00000220763.5 + 8 1503 c.1293C>T c.(1291-1293)ttC>ttT p.F431F NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 431 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity AGTATTTCTTCTTCCATCACT 0.433000 16 37 0 0 0.004007 0 0 MSMO1 6307 broad.mit.edu 37 4 166258996 166258996 + Missense_Mutation SNP A A T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:166258996A>T ENST00000261507.6 + 3 484 c.311A>T c.(310-312)aAt>aTt p.N104I MSMO1_ENST00000504317.1_Missense_Mutation_p.N104I|MSMO1_ENST00000393766.2_5'UTR NM_006745.4 NP_006736.1 Q15800 ERG25_HUMAN methylsterol monooxygenase 1 104 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding NADH(DB00157) CTTCTCTTTAATCACTTCTGT 0.353000 21 48 0 0 0.001523 0 0 TACC2 10579 broad.mit.edu 37 10 123844900 123844900 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:123844900C>G ENST00000369005.1 + 4 3225 c.2885C>G c.(2884-2886)tCg>tGg p.S962W TACC2_ENST00000334433.3_Missense_Mutation_p.S962W|TACC2_ENST00000515273.1_Missense_Mutation_p.S962W|TACC2_ENST00000515603.1_Missense_Mutation_p.S962W|TACC2_ENST00000453444.2_Missense_Mutation_p.S962W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 962 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCGAGGGTCTCGCCTCCAGCA 0.537000 34 78 0 0 0.002836 0 0 TYK2 7297 broad.mit.edu 37 19 10461569 10461569 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10461569G>A ENST00000525621.1 - 25 3986 c.3505C>T c.(3505-3507)Ctg>Ttg p.L1169L TYK2_ENST00000524462.1_Silent_p.L984L|TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Silent_p.L1169L NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 1169 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ACTGTCTTCAGAATGGGTATG 0.557000 23 80 0 0 0.002780 0 0 TCOF1 6949 broad.mit.edu 37 5 149748414 149748414 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:149748414G>A ENST00000451292.1 + 5 622 c.514G>A c.(514-516)Gaa>Aaa p.E172K TCOF1_ENST00000439160.2_Missense_Mutation_p.E172K|TCOF1_ENST00000394269.3_Missense_Mutation_p.E172K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E172K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E172K|TCOF1_ENST00000504761.2_Missense_Mutation_p.E172K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E172K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E172K Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 172 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTGGTCTCAGAAACTGAGGA 0.582000 21 54 0 0 0.001882 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554506 140554506 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140554506C>T ENST00000231137.3 + 1 2264 c.2090C>T c.(2089-2091)tCg>tTg p.S697L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 697 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGTGTCTTCGCTCTTCCTC 0.706000 35 375 0 0 0.003755 0 0 CDH5 1003 broad.mit.edu 37 16 66426236 66426236 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:66426236G>C ENST00000341529.3 + 7 1315 c.1167G>C c.(1165-1167)ctG>ctC p.L389L CDH5_ENST00000563425.2_Silent_p.L389L NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 389 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AGAAGCCTCTGATTGGCACAG 0.537000 41 120 0 0 0.006999 0 0 ESYT3 83850 broad.mit.edu 37 3 138195290 138195290 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:138195290G>A ENST00000389567.4 + 22 2766 c.2580G>A c.(2578-2580)ctG>ctA p.L860L ESYT3_ENST00000460133.1_3'UTR NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 860 C2 3. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 TTTAGGTACTGATTGACTTAT 0.353000 4 55 0 0 0.001168 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822358 56822358 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56822358C>A ENST00000229201.4 - 12 1534 c.1380G>T c.(1378-1380)gtG>gtT p.V460V TIMELESS_ENST00000553532.1_Silent_p.V461V|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 461 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TGCTCTCCCTCACAGCCTCAT 0.562000 12 42 0.00136819 0.00180646 0.001368 1 0 PDZD2 23037 broad.mit.edu 37 5 32087406 32087406 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:32087406C>T ENST00000438447.1 + 20 4240 c.3852C>T c.(3850-3852)ctC>ctT p.L1284L PDZD2_ENST00000282493.3_Silent_p.L1284L O15018 PDZD2_HUMAN PDZ domain containing 2 1284 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CAGTCAGGCTCCCCCATGAGG 0.622000 34 100 0 0 0.004878 0 0 IHH 3549 broad.mit.edu 37 2 219920403 219920403 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219920403C>T ENST00000295731.6 - 3 761 c.762G>A c.(760-762)ctG>ctA p.L254L NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAAGGCTCTCAGCCTGTGAG 0.652000 20 25 0 0 0.007413 0 0 DDX55 57696 broad.mit.edu 37 12 124104529 124104529 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:124104529G>C ENST00000238146.4 + 14 1695 c.1645G>C c.(1645-1647)Gag>Cag p.E549Q DDX55_ENST00000421670.3_Missense_Mutation_p.E156Q|DDX55_ENST00000538744.1_Missense_Mutation_p.E518Q NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 549 Lys-rich. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TATTGAAGATGAGGACATGGA 0.348000 19 73 0 0 0.008871 0 0 DNAH5 1767 broad.mit.edu 37 5 13862845 13862845 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:13862845G>A ENST00000265104.4 - 29 4712 c.4608C>T c.(4606-4608)atC>atT p.I1536I CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1536 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCACCGCACTGATACAGATGT 0.413000 Kartagener syndrome 26 96 0 0 0.007291 0 0 PBRM1 55193 broad.mit.edu 37 3 52643561 52643561 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:52643561G>C ENST00000356770.4 - 15 2241 c.2239C>G c.(2239-2241)Caa>Gaa p.Q747E PBRM1_ENST00000409114.3_Missense_Mutation_p.Q794E|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q779E|PBRM1_ENST00000296302.7_Missense_Mutation_p.Q779E|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q794E|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q779E|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q779E|PBRM1_ENST00000394830.3_Missense_Mutation_p.Q779E Q86U86 PB1_HUMAN polybromo 1 779 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.Q779*(5)|p.Q747*(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATAAGCTCTTGAATCAGCAAA 0.448000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 36 43 0 0 0.003755 0 0 NOL6 65083 broad.mit.edu 37 9 33467733 33467733 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:33467733C>T ENST00000379471.2 - 12 1645 c.1558G>A c.(1558-1560)Gct>Act p.A520T NOL6_ENST00000455041.2_Missense_Mutation_p.A468T|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 520 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TTCAGCCGAGCCCCCAGGCCC 0.647000 4 37 0 0 0.000602 0 0 NRD1 4898 broad.mit.edu 37 1 52283797 52283797 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:52283797G>C ENST00000354831.7 - 12 1695 c.1506C>G c.(1504-1506)atC>atG p.I502M NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.I434M|NRD1_ENST00000544028.1_Missense_Mutation_p.I302M|NRD1_ENST00000539524.1_Missense_Mutation_p.I370M NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 433 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 GAATTTTTCTGATTGGAACAA 0.323000 6 31 0 0 0.003080 0 0 ABCA13 154664 broad.mit.edu 37 7 48559842 48559842 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:48559842T>G ENST00000435803.1 + 53 14027 c.14003T>G c.(14002-14004)cTt>cGt p.L4668R ABCA13_ENST00000544596.1_Missense_Mutation_p.L398R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4668 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GGCACAGTACTTCTCCTCTTG 0.527000 5 43 0 0 0.000602 0 0 SLC30A7 148867 broad.mit.edu 37 1 101387384 101387384 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:101387384C>G ENST00000370112.4 + 8 1016 c.829C>G c.(829-831)Ctt>Gtt p.L277V SLC30A7_ENST00000357650.4_Missense_Mutation_p.L277V NM_001144884.1|NM_133496.4 NP_001138356.1|NP_598003.2 Q8NEW0 ZNT7_HUMAN solute carrier family 30 (zinc transporter), member 7 277 zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding endometrium(3)|large_intestine(2)|lung(10) 15 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TATAGCCATTCTTATAGTTGT 0.303000 13 80 0 0 0.001855 0 0 MKI67 4288 broad.mit.edu 37 10 129904445 129904445 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:129904445C>G ENST00000368654.3 - 13 6034 c.5659G>C c.(5659-5661)Gag>Cag p.E1887Q MKI67_ENST00000368653.3_Missense_Mutation_p.E1527Q NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1887 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AATTCTTCCTCTACGTCTGCT 0.458000 42 346 0 0 0.008740 0 0 KLHDC1 122773 broad.mit.edu 37 14 50175883 50175883 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:50175883G>T ENST00000359332.2 + 2 193 c.103G>T c.(103-105)Gaa>Taa p.E35* NM_172193.2 NP_751943.1 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 35 cytoplasm kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12 all_epithelial(31;0.00244)|Breast(41;0.00964) TTAGTCTATTGAAGACAATGA 0.289000 13 74 9.31168e-06 1.2477e-05 0.001855 1 0 NPDC1 56654 broad.mit.edu 37 9 139937506 139937506 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:139937506C>T ENST00000371600.3 - 1 1038 c.366G>A c.(364-366)ggG>ggA p.G122G NPDC1_ENST00000371601.4_Silent_p.G44G|NPDC1_ENST00000488145.1_5'UTR Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 44 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGTCCAGGCTCCCGGGACAGG 0.697000 4 23 0 0 0.001168 0 0 CHD9 80205 broad.mit.edu 37 16 53338321 53338321 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:53338321G>C ENST00000566029.1 + 31 6612 c.6403G>C c.(6403-6405)Gac>Cac p.D2135H CHD9_ENST00000447540.1_Missense_Mutation_p.D2135H|CHD9_ENST00000398510.3_Missense_Mutation_p.D2135H|CHD9_ENST00000564845.1_Missense_Mutation_p.D2135H Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2135 Ser-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TTCTGATTCTGACTCAGATTC 0.458000 6 20 0 0 0.001984 0 0 CACNG6 59285 broad.mit.edu 37 19 54496189 54496189 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:54496189C>T ENST00000252729.2 + 1 648 c.58C>T c.(58-60)Cgg>Tgg p.R20W CACNG6_ENST00000352529.1_Missense_Mutation_p.R20W|CACNG6_ENST00000346968.2_Missense_Mutation_p.R20W NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 20 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) ggccgcgggccggcggcgggc 0.746000 4 31 0 0 0.000248 0 0 POLR2F 5435 broad.mit.edu 37 22 38437091 38437091 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:38437091G>C ENST00000407936.1 + 6 560 c.469G>C c.(469-471)Gag>Cag p.E157Q POLR2F_ENST00000608713.1_3'UTR P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 0 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) gcggctcagagaggagtgact 0.532000 52 181 0 0 0.003610 0 0 NUP188 23511 broad.mit.edu 37 9 131768878 131768878 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:131768878C>G ENST00000372577.2 + 44 5192 c.5171C>G c.(5170-5172)tCt>tGt p.S1724C NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1724 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 AAGTCCACCTCTCTCTCCAAA 0.637000 OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 45 0 0 0.003214 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448602 142448602 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:142448602C>T ENST00000422143.2 + 0 263 AACTGCAAATCAGGGCTCTGA 0.502000 18 38 0 0 0.004990 0 0 MCCC1 56922 broad.mit.edu 37 3 182763328 182763328 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:182763328C>T ENST00000492597.1 - 9 1331 c.629G>A c.(628-630)gGg>gAg p.G210E MCCC1_ENST00000539926.1_Splice_Site_p.G184E|MCCC1_ENST00000265594.4_Splice_Site_p.G319E Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 319 ATP-grasp.|Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTCCACAGTCCCTAAAAGGTA 0.363000 13 54 0 0 0.001368 0 0 TDRD6 221400 broad.mit.edu 37 6 46665740 46665740 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46665740G>C ENST00000316081.6 + 3 6177 c.6177G>C c.(6175-6177)ttG>ttC p.L2059F TDRD6_ENST00000544460.1_Intron NM_001010870.2 NP_001010870.1 O60522 TDRD6_HUMAN tudor domain containing 6 2059 Tudor 8. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGTAGGTTTTGAACCTTTCAA 0.318000 28 135 0 0 0.002096 0 0 OR4D11 219986 broad.mit.edu 37 11 59271544 59271544 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:59271544C>T ENST00000313253.1 + 1 496 c.496C>T c.(496-498)Ctc>Ttc p.L166F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GTTGCTGCCTCTCCCTTTCTG 0.517000 54 172 0 0 0.003610 0 0 METTL7A 25840 broad.mit.edu 37 12 51323733 51323733 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51323733G>C ENST00000548553.1 + 3 1516 c.535G>C c.(535-537)Gag>Cag p.E179Q METTL7A_ENST00000332160.4_Missense_Mutation_p.E179Q Q9H8H3 MET7A_HUMAN methyltransferase like 7A 179 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 TGTGGCAGCTGAGTGTTCGAC 0.428000 56 188 0 0 0.003610 0 0 IFT122 55764 broad.mit.edu 37 3 129214429 129214429 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:129214429C>A ENST00000296266.3 + 19 2532 c.2340C>A c.(2338-2340)ctC>ctA p.L780L IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000348417.2_Silent_p.L729L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000513932.1_3'UTR NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 729 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ACACCGACCTCTGCATGTTTG 0.537000 20 48 2.27731e-05 3.0389e-05 0.001882 1 0 PLXND1 23129 broad.mit.edu 37 3 129290635 129290635 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:129290635G>C ENST00000393239.1 - 16 3308 c.3130C>G c.(3130-3132)Ccg>Gcg p.P1044A PLXND1_ENST00000324093.4_Missense_Mutation_p.P1044A Q9Y4D7 PLXD1_HUMAN plexin D1 1044 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 ACAGGCACCGGAGCCGGCAGG 0.662000 5 27 0 0 0.000602 0 0 SI 6476 broad.mit.edu 37 3 164735823 164735823 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:164735823T>C ENST00000264382.3 - 29 3517 c.3455A>G c.(3454-3456)tAt>tGt p.Y1152C NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1152 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGCCATGTAATAGGGATGAAA 0.313000 HNSCC(35;0.089) 7 64 0 0 0.004482 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236081 140236081 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140236081C>G ENST00000307360.5 + 1 448 c.448C>G c.(448-450)Cga>Gga p.R150G PCDHA10_ENST00000506939.2_Missense_Mutation_p.R150G|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2 NP_061724.1 p.R150*(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTGACTCTCGATTTCCACT 0.438000 66 130 0 0 0.003610 0 0 TRHDE 29953 broad.mit.edu 37 12 72666690 72666690 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:72666690C>T ENST00000261180.4 + 1 228 c.132C>T c.(130-132)ttC>ttT p.F44F TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 44 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGCTGGCCTTCGCTGTGTCCC 0.692000 8 10 0 0 0.008291 0 0 FBXO34 55030 broad.mit.edu 37 14 55817300 55817300 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:55817300C>G ENST00000313833.4 + 2 437 c.192C>G c.(190-192)atC>atG p.I64M FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.I64M NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 64 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CATTTGGGATCCTTTCTCCAA 0.438000 54 109 0 0 0.003610 0 0 N4BP1 9683 broad.mit.edu 37 16 48595368 48595368 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:48595368C>G ENST00000262384.3 - 2 1422 c.1186G>C c.(1186-1188)Gaa>Caa p.E396Q RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 396 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) GCTGAAAATTCTCTGTCTTCT 0.348000 23 47 0 0 0.002299 0 0 C20orf85 128602 broad.mit.edu 37 20 56728648 56728648 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:56728648G>C ENST00000371168.3 + 2 178 c.117G>C c.(115-117)caG>caC p.Q39H NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 39 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) ACTGGCCCCAGAACTGGGGGT 0.433000 28 91 0 0 0.007291 0 0 CASD1 64921 broad.mit.edu 37 7 94166908 94166908 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:94166908C>G ENST00000297273.4 + 9 1255 c.968C>G c.(967-969)tCt>tGt p.S323C NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 323 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTCACTTTATCTATTATCGGA 0.358000 27 92 0 0 0.003954 0 0 BDP1 55814 broad.mit.edu 37 5 70751838 70751838 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:70751838C>T ENST00000358731.4 + 1 397 c.134C>T c.(133-135)tCc>tTc p.S45F BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 45 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GACTCTGCTTCCAAGCCCGCG 0.632000 12 34 0 0 0.002450 0 0 CAPN11 11131 broad.mit.edu 37 6 44148506 44148506 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:44148506G>A ENST00000398776.1 + 17 1806 c.1768G>A c.(1768-1770)Gag>Aag p.E590K CAPN11_ENST00000542245.1_Missense_Mutation_p.E590K NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 590 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGGGTGTATGAGCTCCAGAG 0.602000 12 46 0 0 0.002450 0 0 KLHL6 89857 broad.mit.edu 37 3 183225916 183225916 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:183225916G>A ENST00000341319.3 - 3 875 c.840C>T c.(838-840)ctC>ctT p.L280L NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 280 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ACTGCCTGATGAGAGGATCTG 0.527000 28 66 0 0 0.005443 0 0 SEMA4C 54910 broad.mit.edu 37 2 97529515 97529515 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:97529515G>C ENST00000305476.5 - 12 1479 c.1347C>G c.(1345-1347)ctC>ctG p.L449L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 449 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TCACAGCCTTGAGCAGCCAGC 0.617000 4 49 0 0 0.000602 0 0 TENM4 26011 broad.mit.edu 37 11 78369325 78369325 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:78369325C>G ENST00000278550.7 - 34 8550 c.8088G>C c.(8086-8088)caG>caC p.Q2696H NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCACGGCTCTCTGCCGGGCCA 0.657000 10 21 0 0 0.008291 0 0 TNXB 7148 broad.mit.edu 37 6 32026081 32026081 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:32026081C>T ENST00000375244.3 - 22 7780 c.7579G>A c.(7579-7581)Gag>Aag p.E2527K TNXB_ENST00000375247.2_Missense_Mutation_p.E2527K P22105 TENX_HUMAN tenascin XB 2587 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGTCAGCTCCCCCAGGAGA 0.627000 8 32 0 0 0.003080 0 0 IGFLR1 79713 broad.mit.edu 37 19 36230990 36230990 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36230990C>T ENST00000589807.1 - 10 1171 c.e10-1 IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_Splice_Site|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000592537.1_Splice_Site GGACCGGCCTCTGGGGATAAG 0.607000 4 46 0 0 0.000602 0 0 IRX5 10265 broad.mit.edu 37 16 54967645 54967645 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:54967645C>T ENST00000394636.4 + 3 1649 c.1312C>T c.(1312-1314)Cat>Tat p.H438Y IRX5_ENST00000320990.5_Missense_Mutation_p.H437Y|IRX5_ENST00000560154.1_Missense_Mutation_p.H218Y|IRX5_ENST00000558597.1_Missense_Mutation_p.H372Y P78411 IRX5_HUMAN iroquois homeobox 5 438 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 TCCGGGGTCTCATTTCAATGG 0.592000 31 88 0 0 0.008361 0 0 SIRT5 23408 broad.mit.edu 37 6 13592071 13592071 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:13592071G>A ENST00000606117.1 + 5 716 c.420G>A c.(418-420)caG>caA p.Q140Q SIRT5_ENST00000379262.4_Silent_p.Q140Q|SIRT5_ENST00000359782.3_Silent_p.Q140Q|SIRT5_ENST00000397350.2_Silent_p.Q32Q NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 140 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TCATCACCCAGAACATCGATG 0.617000 12 46 0 0 0.001855 0 0 CIC 23152 broad.mit.edu 37 19 42791575 42791575 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:42791575G>C ENST00000572681.2 + 5 3351 c.3283G>C c.(3283-3285)Gag>Cag p.E1095Q CIC_ENST00000160740.3_Missense_Mutation_p.E186Q|CIC_ENST00000575354.2_Missense_Mutation_p.E186Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 186 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CTCATCTTCTGAGAAGGATGG 0.597000 """Mis, F, S""" oligodendroglioma 26 154 0 0 0.006320 0 0 CYYR1 116159 broad.mit.edu 37 21 27945285 27945285 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:27945285G>T ENST00000435845.2 - 1 318 c.299C>A c.(298-300)gCt>gAt p.A100D CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 141 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GAGGCTTGGAGCGAAGGGAGA 0.647000 5 35 0.00198382 0.00261291 0.001984 1 0 MRPS15 64960 broad.mit.edu 37 1 36927747 36927747 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:36927747C>T ENST00000373116.5 - 3 354 c.193G>A c.(193-195)Gat>Aat p.D65N NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 65 GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGTGGGTCATCATCCAGCCTA 0.537000 31 39 0 0 0.002096 0 0 PGRMC2 10424 broad.mit.edu 37 4 129193594 129193594 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:129193594C>G ENST00000520121.1 - 2 1535 c.569G>C c.(568-570)aGa>aCa p.R190T PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503588.1_Missense_Mutation_p.R34T|PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503872.1_5'UTR|PGRMC2_ENST00000296425.5_Missense_Mutation_p.R166T NM_006320.4 NP_006311.2 progesterone receptor membrane component 2 ATATTCATCTCTAAGTGCATC 0.373000 5 33 0 0 0.001168 0 0 LRRCC1 85444 broad.mit.edu 37 8 86022358 86022358 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:86022358G>A ENST00000414626.2 + 2 1148 c.259G>A c.(259-261)Gaa>Aaa p.E87K LRRCC1_ENST00000360375.3_Missense_Mutation_p.E107K Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 107 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 aGGACTTGAAGAACTAATTAA 0.249000 9 52 0 0 0.008291 0 0 KIAA0430 9665 broad.mit.edu 37 16 15718772 15718772 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:15718772G>C ENST00000396368.3 - 10 2330 c.2124C>G c.(2122-2124)ctC>ctG p.L708L KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.L707L|KIAA0430_ENST00000540441.2_Silent_p.L565L|KIAA0430_ENST00000548025.1_Silent_p.L705L|KIAA0430_ENST00000602337.1_Silent_p.L705L NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 707 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TTCGGGCACTGAGGTTCTCCT 0.408000 32 66 0 0 0.002445 0 0 FAT1 2195 broad.mit.edu 37 4 187531098 187531098 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187531098C>T ENST00000441802.2 - 15 10134 c.9925G>A c.(9925-9927)Gat>Aat p.D3309N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3309 Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGCCTCCATCAGTGGCCTCT 0.443000 HNSCC(5;0.00058) 10 43 0 0 0.008291 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127555 117127555 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:117127555G>A ENST00000310357.3 - 3 1334 c.1313C>T c.(1312-1314)cCc>cTc p.P438L GPRC6A_ENST00000368549.3_Missense_Mutation_p.P438L|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 438 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAAGGCGTTGGGGTTCTGACA 0.448000 12 50 0 0 0.000978 0 0 LAMB1 3912 broad.mit.edu 37 7 107594078 107594078 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:107594078C>A ENST00000393561.1 - 20 3232 c.3048G>T c.(3046-3048)aaG>aaT p.K1016N LAMB1_ENST00000222399.6_Missense_Mutation_p.K992N P07942 LAMB1_HUMAN laminin, beta 1 992 Laminin EGF-like 10. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCCAGTCTCCTTGTCACAGG 0.542000 6 149 0.00307968 0.00404644 0.003080 1 0 UTP14A 10813 broad.mit.edu 37 X 129058892 129058892 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:129058892G>C ENST00000394422.3 + 12 1498 c.1470G>C c.(1468-1470)gaG>gaC p.E490D UTP14A_ENST00000425117.2_Missense_Mutation_p.E438D|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.E436D|UTP14A_ENST00000371042.3_Missense_Mutation_p.E322D NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 490 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 TCCAGAGAGAGGAACCTGCCC 0.478000 35 99 0 0 0.005524 0 0 CARD10 29775 broad.mit.edu 37 22 37902202 37902202 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:37902202G>C ENST00000403299.1 - 8 1596 c.1380C>G c.(1378-1380)ctC>ctG p.L460L CARD10_ENST00000251973.5_Silent_p.L460L|CARD10_ENST00000406271.3_Silent_p.L174L Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 460 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CGCTCACCTTGAGGCAGGTGC 0.672000 14 30 0 0 0.007413 0 0 HYAL2 8692 broad.mit.edu 37 3 50357236 50357236 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:50357236C>T ENST00000447092.1 - 1 2977 c.685G>A c.(685-687)Gat>Aat p.D229N HYAL2_ENST00000357750.4_Missense_Mutation_p.D229N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D229N|HYAL2_ENST00000442581.1_Missense_Mutation_p.D229N Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 229 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) ACCTCAACATCAGGGCAGCGG 0.612000 17 32 0 0 0.004007 0 0 ITSN1 6453 broad.mit.edu 37 21 35183344 35183344 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:35183344G>A ENST00000381318.3 + 21 2673 c.2385G>A c.(2383-2385)tgG>tgA p.W795* ITSN1_ENST00000399353.1_Nonsense_Mutation_p.W753*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.W790*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.W795*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.W790*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.W790*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.W795*|ITSN1_ENST00000379960.5_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.W795*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.W790* NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 795 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGACAGGGTGGTTCCCTGCAA 0.483000 21 150 0 0 0.008871 0 0 ZNF791 163049 broad.mit.edu 37 19 12739289 12739289 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12739289C>G ENST00000343325.4 + 4 1108 c.946C>G c.(946-948)Caa>Gaa p.Q316E ZNF791_ENST00000458122.3_Missense_Mutation_p.Q284E|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.Q207E|ZNF791_ENST00000446165.1_3'UTR NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 CACCTCCATTCAAATTCATGA 0.393000 11 54 0 0 0.001855 0 0 TFAM 7019 broad.mit.edu 37 10 60145995 60145995 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:60145995G>A ENST00000487519.1 + 2 643 c.117G>A c.(115-117)ccG>ccA p.P39P TFAM_ENST00000373895.3_Silent_p.P39P|TFAM_ENST00000373899.3_3'UTR NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 39 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 TGTATTTACCGAGGTGGTTTT 0.338000 27 70 0 0 0.007291 0 0 ELF3 1999 broad.mit.edu 37 1 201981809 201981809 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:201981809C>T ENST00000359651.3 + 4 3712 c.520C>T c.(520-522)Cag>Tag p.Q174* ELF3_ENST00000367283.3_Nonsense_Mutation_p.Q174*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.Q174*|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 174 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GGACGACGGTCAGCAAGCCAG 0.667000 16 77 0 0 0.004007 0 0 DGKZ 8525 broad.mit.edu 37 11 46397143 46397143 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:46397143G>A ENST00000454345.1 + 21 2561 c.2436G>A c.(2434-2436)caG>caA p.Q812Q DGKZ_ENST00000318201.8_Silent_p.Q601Q|DGKZ_ENST00000532868.2_Silent_p.Q628Q|DGKZ_ENST00000421244.2_Silent_p.Q624Q|DGKZ_ENST00000395574.3_Silent_p.Q590Q|DGKZ_ENST00000528615.1_Silent_p.Q402Q|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Silent_p.Q623Q|DGKZ_ENST00000527911.1_Silent_p.Q624Q|DGKZ_ENST00000343674.6_Silent_p.Q640Q NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 812 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCATGGTGCAGAAGGCCAAGC 0.692000 5 12 0 0 0.004482 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801938 24801938 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:24801938C>G ENST00000395799.3 + 6 2104 c.1975C>G c.(1975-1977)Caa>Gaa p.Q659E TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q659E NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 659 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GACAAATGAGCAAAGCAGTGT 0.468000 19 52 0 0 0.006122 0 0 GOLGA3 2802 broad.mit.edu 37 12 133381374 133381374 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:133381374C>T ENST00000204726.3 - 7 2083 c.1525G>A c.(1525-1527)Gag>Aag p.E509K GOLGA3_ENST00000545875.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E509K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E509K NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 509 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TACTGCTCCTCGGCCACCTGC 0.607000 28 66 0 0 0.006320 0 0 GRIK1 2897 broad.mit.edu 37 21 30927614 30927614 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:30927614T>C ENST00000399914.1 - 15 2842 c.2321A>G c.(2320-2322)tAc>tGc p.Y774C GRIK1_ENST00000535441.1_Missense_Mutation_p.Y791C|GRIK1_ENST00000399907.1_Missense_Mutation_p.Y789C|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y789C|GRIK1_ENST00000399909.1_Missense_Mutation_p.Y774C|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y774C|GRIK1_ENST00000327783.4_Missense_Mutation_p.Y789C|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y789C|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y791C P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 789 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTTATCCCGGTAAGGAGAACC 0.403000 18 93 0 0 0.006122 0 0 C12orf71 728858 broad.mit.edu 37 12 27235150 27235150 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:27235150G>T ENST00000429849.2 - 1 297 c.267C>A c.(265-267)ttC>ttA p.F89L NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 89 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 CCCAGGCCAGGAAGATGCTTA 0.483000 7 52 0.00307968 0.00404644 0.003080 1 0 NFASC 23114 broad.mit.edu 37 1 204942505 204942505 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:204942505G>A ENST00000367172.4 + 12 1565 c.1237G>A c.(1237-1239)Gag>Aag p.E413K NFASC_ENST00000404907.1_Missense_Mutation_p.E424K|NFASC_ENST00000367171.4_Missense_Mutation_p.E413K|NFASC_ENST00000539706.1_Missense_Mutation_p.E424K|NFASC_ENST00000513543.1_Missense_Mutation_p.E424K|NFASC_ENST00000367169.4_Missense_Mutation_p.E413K|NFASC_ENST00000401399.1_Missense_Mutation_p.E413K|NFASC_ENST00000403080.1_Missense_Mutation_p.E413K|NFASC_ENST00000339876.6_Missense_Mutation_p.E413K|NFASC_ENST00000360049.4_Missense_Mutation_p.E424K|NFASC_ENST00000338586.6_Missense_Mutation_p.E413K|NFASC_ENST00000404076.1_Missense_Mutation_p.E407K|NFASC_ENST00000338515.6_Missense_Mutation_p.E413K|NFASC_ENST00000367170.4_Missense_Mutation_p.E413K O94856 NFASC_HUMAN neurofascin 413 Ig-like C2-type 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACCTCCAACGAGCATGGCTA 0.607000 16 37 0 0 0.004007 0 0 HCG17 414778 broad.mit.edu 37 6 30228356 30228356 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:30228356G>A ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA GACACCTGGAGAACGGGAAGG 0.627000 11 38 0 0 0.008291 0 0 TAOK1 57551 broad.mit.edu 37 17 27861196 27861196 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:27861196G>A ENST00000261716.3 + 19 2941 c.2422G>A c.(2422-2424)Gaa>Aaa p.E808K TAOK1_ENST00000536202.1_Missense_Mutation_p.E660K NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 808 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GCTGCAGCAGGAACTGGAGCT 0.488000 58 43 0 0 0.003610 0 0 FCGRT 2217 broad.mit.edu 37 19 50029338 50029338 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:50029338G>A ENST00000221466.5 + 7 1546 c.1060G>A c.(1060-1062)Gat>Aat p.D354N FCGRT_ENST00000599988.1_Missense_Mutation_p.D88N|FCGRT_ENST00000426395.3_Missense_Mutation_p.D354N|FCGRT_ENST00000596975.1_Missense_Mutation_p.D262N NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 354 antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CCAGGATGCTGATTTGAAGGA 0.577000 33 311 0 0 0.003755 0 0 NFATC2 4773 broad.mit.edu 37 20 50140246 50140246 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:50140246G>T ENST00000371564.3 - 2 753 c.534C>A c.(532-534)ttC>ttA p.F178L NFATC2_ENST00000396009.3_Missense_Mutation_p.F178L|NFATC2_ENST00000414705.1_Missense_Mutation_p.F158L|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.F158L|NFATC2_ENST00000610033.1_Intron NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 178 Trans-activation domain A (TAD-A). B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TGTCAGAAATGAAGCTGGCAG 0.647000 18 57 6.94344e-10 9.54797e-10 0.006122 1 0 FLT4 2324 broad.mit.edu 37 5 180041111 180041111 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:180041111G>A ENST00000261937.6 - 24 3366 c.3288C>T c.(3286-3288)gaC>gaT p.D1096D FLT4_ENST00000393347.3_Silent_p.D1096D|FLT4_ENST00000502649.1_Silent_p.D1096D NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1096 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGGACCACACGTCACTCTGCG 0.622000 33 51 0 0 0.003755 0 0 GIGYF1 64599 broad.mit.edu 37 7 100283898 100283898 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100283898C>G ENST00000275732.5 - 8 2062 c.853G>C c.(853-855)Gag>Cag p.E285Q GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 285 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTGTCCTCCTCAAAGCCTTCA 0.607000 27 101 0 0 0.001786 0 0 UBXN6 80700 broad.mit.edu 37 19 4453979 4453979 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:4453979C>T ENST00000301281.6 - 2 319 c.195G>A c.(193-195)caG>caA p.Q65Q UBXN6_ENST00000394765.3_Silent_p.Q12Q NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 65 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 GGGACTGCTTCTGCTCCAGCC 0.672000 48 127 0 0 0.003610 0 0 SLC35A4 113829 broad.mit.edu 37 5 139947635 139947635 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:139947635C>T ENST00000514199.1 + 2 2567 c.881C>T c.(880-882)tCa>tTa p.S294L SLC35A4_ENST00000323146.3_Missense_Mutation_p.S294L|APBB3_ENST00000507279.1_Intron Q96G79 S35A4_HUMAN solute carrier family 35, member A4 294 Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGTGCTCTCAGCAGTCCTG 0.592000 19 49 0 0 0.007413 0 0 DGKD 8527 broad.mit.edu 37 2 234343105 234343105 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:234343105C>T ENST00000264057.2 + 4 440 c.428C>T c.(427-429)aCt>aTt p.T143I DGKD_ENST00000409813.3_Missense_Mutation_p.T99I NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 143 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCATTAAAGACTGTGCAGAAC 0.443000 15 93 0 0 0.002450 0 0 NHS 4810 broad.mit.edu 37 X 17744900 17744900 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:17744900C>G ENST00000380060.3 + 6 2949 c.2611C>G c.(2611-2613)Ctt>Gtt p.L871V NHS_ENST00000398097.3_Missense_Mutation_p.L715V NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 871 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GAAGCTGCCTCTTGATTTCGC 0.473000 19 53 0 0 0.006122 0 0 KDM2A 22992 broad.mit.edu 37 11 67022406 67022406 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:67022406G>A ENST00000529006.2 + 21 3815 c.3369G>A c.(3367-3369)ttG>ttA p.L1123L KDM2A_ENST00000530342.1_Silent_p.L684L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L581L|KDM2A_ENST00000398645.2_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 1123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ACGTCACCTTGATCGACCTTC 0.502000 6 19 0 0 0.001984 0 0 MYO16 23026 broad.mit.edu 37 13 109613989 109613989 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:109613989C>T ENST00000356711.2 + 18 2200 c.2074C>T c.(2074-2076)Cag>Tag p.Q692* MYO16_ENST00000457511.2_Nonsense_Mutation_p.Q204*|MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q692*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q692* NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 692 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTCTGACCTCCAGCTCCTGGA 0.458000 40 68 0 0 0.002222 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938321 116938321 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:116938321G>A ENST00000229554.5 + 1 672 c.535G>A c.(535-537)Gac>Aac p.D179N RSPH4A_ENST00000368580.4_Missense_Mutation_p.D179N|RSPH4A_ENST00000368581.4_Missense_Mutation_p.D179N NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 179 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTGAGATTTGACGTTTTTCA 0.502000 Kartagener syndrome 26 155 0 0 0.004656 0 0 COL11A1 1301 broad.mit.edu 37 1 103478004 103478004 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:103478004C>T ENST00000358392.2 - 14 1947 c.1630G>A c.(1630-1632)Ggc>Agc p.G544S COL11A1_ENST00000370096.3_Missense_Mutation_p.G532S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G416S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G493S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 532 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCATTGGGCCAGGTGGGCCT 0.388000 9 24 0 0 0.008291 0 0 MGA 23269 broad.mit.edu 37 15 42028795 42028795 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42028795C>T ENST00000219905.7 + 13 4514 c.4333C>T c.(4333-4335)Cat>Tat p.H1445Y MGA_ENST00000570161.1_Missense_Mutation_p.H1445Y|MGA_ENST00000389936.4_Missense_Mutation_p.H1445Y|MGA_ENST00000545763.1_Missense_Mutation_p.H1445Y|MGA_ENST00000566586.1_Missense_Mutation_p.H1445Y NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1445 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGAGAGATTACATGGAGGCAA 0.493000 13 47 0 0 0.001855 0 0 LCE2B 26239 broad.mit.edu 37 1 152659594 152659594 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:152659594G>C ENST00000368780.3 + 2 329 c.275G>C c.(274-276)tGt>tCt p.C92S LCE2B_ENST00000417924.2_Missense_Mutation_p.C92S NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 92 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCGACTGCTGTGAGAGTGAA 0.632000 35 108 0 0 0.003271 0 0 SNTG2 54221 broad.mit.edu 37 2 1263181 1263181 + Missense_Mutation SNP C C G rs145354756 by1000genomes TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:1263181C>G ENST00000308624.5 + 13 1174 c.1045C>G c.(1045-1047)Cac>Gac p.H349D SNTG2_ENST00000407292.1_Missense_Mutation_p.H222D NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 349 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.H349Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAGGACCTATCACCTCTGTGA 0.413000 30 64 0 0 0.003755 0 0 SQRDL 58472 broad.mit.edu 37 15 45965961 45965961 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:45965961C>T ENST00000260324.7 + 5 1002 c.616C>T c.(616-618)Cag>Tag p.Q206* RP11-96O20.4_ENST00000564080.1_Nonsense_Mutation_p.Q206*|SQRDL_ENST00000568606.1_Nonsense_Mutation_p.Q206* NM_021199.3 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 206 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TGGAGCCCCTCAGAAGATCAT 0.478000 15 64 0 0 0.003163 0 0 EIF4A3 9775 broad.mit.edu 37 17 78115643 78115643 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:78115643G>A ENST00000269349.3 - 3 468 c.247C>T c.(247-249)Cag>Tag p.Q83* NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 83 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) GTGCCGGACTGAGACCTATTC 0.478000 12 42 0 0 0.001368 0 0 MB21D1 115004 broad.mit.edu 37 6 74150012 74150012 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:74150012G>T ENST00000370315.3 - 3 1128 c.1034C>A c.(1033-1035)tCa>tAa p.S345* MB21D1_ENST00000370318.1_Nonsense_Mutation_p.S345* NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 345 central_nervous_system(1)|large_intestine(4)|lung(1) 6 AACTTTTGCTGAAAGCCAGTT 0.393000 30 76 1.2476e-16 1.74965e-16 0.006320 1 0 KCMF1 56888 broad.mit.edu 37 2 85262250 85262250 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:85262250C>G ENST00000409785.4 + 3 655 c.296C>G c.(295-297)tCt>tGt p.S99C NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 intracellular ligase activity|zinc ion binding ovary(3) 3 CATGTTACTTCTGAACATGCA 0.378000 16 24 0 0 0.004990 0 0 PARP4 143 broad.mit.edu 37 13 25008601 25008601 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:25008601C>T ENST00000381989.3 - 31 4783 c.4678G>A c.(4678-4680)Gaa>Aaa p.E1560K NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1560 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CACACTATTTCATCCTCTTCT 0.398000 16 96 0 0 0.003163 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65239700 65239700 + Missense_Mutation SNP C C T rs145708523 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:65239700C>T ENST00000380230.3 + 13 1267 c.1238C>T c.(1237-1239)tCt>tTt p.S413F ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S290F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S413F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S381F NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 413 Death. signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CAGCTCCGTTCTGTGCTGTGG 0.592000 9 20 0 0 0.000978 0 0 IPO7 10527 broad.mit.edu 37 11 9435956 9435956 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:9435956C>T ENST00000379719.3 + 5 776 c.634C>T c.(634-636)Cag>Tag p.Q212* NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 212 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGCTCTTGTTCAGGTAATATC 0.343000 8 71 0 0 0.006214 0 0 MKI67 4288 broad.mit.edu 37 10 129903899 129903899 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:129903899C>G ENST00000368654.3 - 13 6580 c.6205G>C c.(6205-6207)Gag>Cag p.E2069Q MKI67_ENST00000368653.3_Missense_Mutation_p.E1709Q NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2069 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GATTGGGCCTCTTCCTTAGGT 0.483000 64 320 0 0 0.003610 0 0 CLEC6A 93978 broad.mit.edu 37 12 8618181 8618181 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:8618181G>A ENST00000382073.3 + 4 511 c.325G>A c.(325-327)Gag>Aag p.E109K NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 109 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) GAACTGTGTTGAGATGGGAGC 0.393000 30 77 0 0 0.003755 0 0 RBM25 58517 broad.mit.edu 37 14 73576063 73576063 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:73576063C>T ENST00000261973.7 + 14 1840 c.1555C>T c.(1555-1557)Cag>Tag p.Q519* RBM25_ENST00000527432.1_Nonsense_Mutation_p.Q519*|RBM25_ENST00000532483.1_3'UTR NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 519 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AAGTGCTCTTCAGAAAAGGTT 0.428000 37 118 0 0 0.008740 0 0 FAM20A 54757 broad.mit.edu 37 17 66550954 66550954 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66550954C>T ENST00000592554.1 - 3 1326 c.604G>A c.(604-606)Gag>Aag p.E202K FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 202 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) AAGGCTTTCTCATCTTGACTG 0.542000 39 39 0 0 0.008740 0 0 GPANK1 7918 broad.mit.edu 37 6 31631705 31631705 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:31631705G>A ENST00000375906.1 - 3 1235 c.551C>T c.(550-552)gCt>gTt p.A184V GPANK1_ENST00000375900.4_Missense_Mutation_p.A184V|GPANK1_ENST00000375896.4_Missense_Mutation_p.A184V|GPANK1_ENST00000375895.2_Missense_Mutation_p.A184V|GPANK1_ENST00000375893.2_Missense_Mutation_p.A184V NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 184 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 AGCTTCTTCAGCGAGCTGAGC 0.642000 19 40 0 0 0.007413 0 0 LRRK2 120892 broad.mit.edu 37 12 40629491 40629491 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:40629491G>A ENST00000298910.7 + 4 469 c.411G>A c.(409-411)aaG>aaA p.K137K LRRK2_ENST00000343742.2_Silent_p.K137K NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 137 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTGGACTGAAGACCTTAGATC 0.303000 12 53 0 0 0.001855 0 0 EVI5 7813 broad.mit.edu 37 1 93091443 93091443 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:93091443C>T ENST00000370331.1 - 13 1537 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.E510K|EVI5_ENST00000543509.1_Missense_Mutation_p.E521K NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 510 Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GCAATGAGTTCTTCCTGAAGC 0.338000 31 46 0 0 0.001786 0 0 PCNX 22990 broad.mit.edu 37 14 71479708 71479708 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:71479708C>G ENST00000304743.2 + 11 3231 c.2785C>G c.(2785-2787)Ctc>Gtc p.L929V PCNX_ENST00000238570.5_Missense_Mutation_p.L929V|PCNX_ENST00000439984.3_Intron NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 929 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTAGCTCTCTCTCCCACAGAT 0.338000 9 62 0 0 0.006214 0 0 MGA 23269 broad.mit.edu 37 15 42028655 42028655 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42028655C>G ENST00000219905.7 + 13 4374 c.4193C>G c.(4192-4194)tCt>tGt p.S1398C MGA_ENST00000570161.1_Missense_Mutation_p.S1398C|MGA_ENST00000389936.4_Missense_Mutation_p.S1398C|MGA_ENST00000545763.1_Missense_Mutation_p.S1398C|MGA_ENST00000566586.1_Missense_Mutation_p.S1398C NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1398 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.S1398F(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTGAAAATCTCTATGCCATCA 0.468000 17 56 0 0 0.004990 0 0 FBXO46 23403 broad.mit.edu 37 19 46215530 46215530 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:46215530G>T ENST00000317683.3 - 2 1357 c.1224C>A c.(1222-1224)ctC>ctA p.L408L NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 408 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGAGAAAGAAGAGCTGGCCCG 0.701000 8 62 2.52707e-12 3.50466e-12 0.006214 1 0 GPR45 11250 broad.mit.edu 37 2 105859262 105859262 + Missense_Mutation SNP A A C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:105859262A>C ENST00000258456.1 + 1 1063 c.947A>C c.(946-948)aAg>aCg p.K316T NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 316 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 AGTTACCTCAAGTCCGTCTTC 0.547000 19 127 0 0 0.007413 0 0 VAT1L 57687 broad.mit.edu 37 16 77822778 77822778 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:77822778C>G ENST00000302536.2 + 1 352 c.199C>G c.(199-201)Cag>Gag p.Q67E NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 67 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GCCCGAGCCTCAGGACGGCGA 0.672000 6 13 0 0 0.001984 0 0 SPIRE2 84501 broad.mit.edu 37 16 89929889 89929889 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:89929889C>T ENST00000378247.3 + 11 1624 c.1581C>T c.(1579-1581)ttC>ttT p.F527F SPIRE2_ENST00000393062.2_Silent_p.F527F NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 527 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCTAGGAGTTCAGCCACCCCG 0.597000 12 36 0 0 0.001368 0 0 DYTN 391475 broad.mit.edu 37 2 207530676 207530676 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:207530676C>A ENST00000452335.2 - 10 1174 c.1058G>T c.(1057-1059)cGa>cTa p.R353L NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 353 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTTTCAAATCGACAAATTCT 0.393000 17 80 3.32936e-07 4.48704e-07 0.006122 1 0 NPAS1 4861 broad.mit.edu 37 19 47535945 47535945 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47535945C>G ENST00000602212.1 + 5 697 c.477C>G c.(475-477)ttC>ttG p.F159L NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.F159L Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 159 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) AAGGAAAATTCCTCTACATCT 0.577000 OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 101 0 0 0.005443 0 0 CELSR3 1951 broad.mit.edu 37 3 48698805 48698805 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48698805C>G ENST00000544264.1 - 1 1543 c.1263G>C c.(1261-1263)gtG>gtC p.V421V CELSR3_ENST00000164024.4_Silent_p.V421V Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 421 Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGCTACTGTCACGGCCACCA 0.662000 36 53 0 0 0.004289 0 0 TTYH3 80727 broad.mit.edu 37 7 2701309 2701309 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:2701309C>G ENST00000258796.7 + 14 1713 c.1508C>G c.(1507-1509)tCc>tGc p.S503C TTYH3_ENST00000407643.1_Missense_Mutation_p.S471C|TTYH3_ENST00000403167.1_Missense_Mutation_p.S332C NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 503 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CAGTACACCTCCAGCATGAGA 0.682000 8 15 0 0 0.004482 0 0 CSPG5 10675 broad.mit.edu 37 3 47619161 47619161 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:47619161C>T ENST00000383738.2 - 2 2453 c.355G>A c.(355-357)Gat>Aat p.D119N CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N|CSPG5_ENST00000456150.1_5'UTR NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 119 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCTGGGCATCGCCGCTGCCC 0.692000 16 82 0 0 0.004990 0 0 KRT37 8688 broad.mit.edu 37 17 39580734 39580734 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39580734G>A ENST00000225550.3 - 1 41 c.42C>T c.(40-42)tgC>tgT p.C14C AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 14 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GAGCCATGGTGCAACCCAGAG 0.577000 30 101 0 0 0.002445 0 0 C2CD3 26005 broad.mit.edu 37 11 73844510 73844510 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73844510G>A ENST00000334126.7 - 6 1274 c.1048C>T c.(1048-1050)Cat>Tat p.H350Y C2CD3_ENST00000313663.7_Missense_Mutation_p.H350Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.H350Y Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 350 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) ATAGGAGGATGAACTTGGTCC 0.393000 13 20 0 0 0.002450 0 0 GKAP1 80318 broad.mit.edu 37 9 86368211 86368211 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:86368211C>T ENST00000376371.2 - 9 1202 c.802G>A c.(802-804)Gaa>Aaa p.E268K GKAP1_ENST00000376365.3_Missense_Mutation_p.E217K NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 268 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TTCTGGATTTCAGCATCTTTC 0.323000 19 55 0 0 0.007413 0 0 NYAP1 222950 broad.mit.edu 37 7 100087045 100087045 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100087045C>G ENST00000423930.1 + 4 1860 c.1701C>G c.(1699-1701)ctC>ctG p.L567L NYAP1_ENST00000300179.2_Silent_p.L567L|NYAP1_ENST00000454988.1_Silent_p.L510L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 567 ATGAGAGCCTCAAGGCTGGGG 0.647000 18 42 0 0 0.006122 0 0 NOTCH2 4853 broad.mit.edu 37 1 120461054 120461054 + Silent SNP C C T rs149442704 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:120461054C>T ENST00000256646.2 - 32 6123 c.5904G>A c.(5902-5904)gcG>gcA p.A1968A NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1968 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATTCACATCCGCTTGGCAGT 0.527000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 11 104 0 0 0.001368 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577917 90577917 + RNA SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:90577917G>C ENST00000551025.1 + 0 6345 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CTTCAGATAAGATGGGTCATA 0.368000 14 45 0 0 0.003163 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999073 143999073 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:143999073C>T ENST00000323110.2 - 1 186 c.184G>A c.(184-186)Gag>Aag p.E62K NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 62 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TGCAGGTGCTCATAACCCTGC 0.637000 Familial Hyperaldosteronism type I 6 55 0 0 0.001168 0 0 MICALCL 84953 broad.mit.edu 37 11 12341262 12341262 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:12341262C>T ENST00000256186.2 + 4 1737 c.1446C>T c.(1444-1446)ctC>ctT p.L482L NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 482 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) ACTTTCCCCTCAGAGCACAGG 0.468000 32 111 0 0 0.002445 0 0 ELF3 1999 broad.mit.edu 37 1 201981484 201981484 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:201981484C>T ENST00000359651.3 + 3 3590 c.398C>T c.(397-399)tCt>tTt p.S133F ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 133 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TCCAGCTCTTCTGATGAGCTC 0.582000 24 132 0 0 0.004656 0 0 CCDC110 256309 broad.mit.edu 37 4 186392204 186392204 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:186392204C>T ENST00000307588.3 - 2 86 c.e2-1 CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Splice_Site NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TGCTGCTTTTCTGTAACAGAA 0.617000 42 74 0 0 0.002222 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 174155 174155 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:174155G>C ENST00000283426.6 + 16 3326 c.3276G>C c.(3274-3276)aaG>aaC p.K1092N NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1092 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGAGGTCAAGAGTGCATGGA 0.592000 6 7 0 0 0.001168 0 0 NCOA6 23054 broad.mit.edu 37 20 33370146 33370146 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33370146C>G ENST00000374796.2 - 4 2583 c.13G>C c.(13-15)Gac>Cac p.D5H NCOA6_ENST00000359003.2_Missense_Mutation_p.D5H Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 5 CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTTGGAAGGTCATCCAAAACC 0.368000 14 47 0 0 0.001855 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36235278 36235278 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36235278C>G ENST00000589807.1 - 4 330 c.290G>C c.(289-291)aGa>aCa p.R97T U2AF1L4_ENST00000378975.3_Missense_Mutation_p.E59D|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.E59D|U2AF1L4_ENST00000412391.2_Missense_Mutation_p.E98D ACACATTCATCTCTTCAATCT 0.562000 37 186 0 0 0.002222 0 0 EPB41L3 23136 broad.mit.edu 37 18 5398076 5398076 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:5398076G>A ENST00000341928.2 - 17 2756 c.2416C>T c.(2416-2418)Cga>Tga p.R806* EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111* NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 806 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GTTGGTTTTCGCGCAGACTCT 0.453000 45 306 0 0 0.003610 0 0 ZNF507 22847 broad.mit.edu 37 19 32873422 32873422 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:32873422C>A ENST00000311921.4 + 5 2602 c.2410C>A c.(2410-2412)Cat>Aat p.H804N ZNF507_ENST00000355898.5_Missense_Mutation_p.H804N|ZNF507_ENST00000544431.1_Missense_Mutation_p.H808N NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TTTGAAGTCTCATATGTGGAA 0.443000 108 338 6.17869e-53 8.8407e-53 0.003610 1 0 PLA2G15 23659 broad.mit.edu 37 16 68293167 68293167 + Silent SNP C C T rs142263893 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:68293167C>T ENST00000219345.5 + 6 929 c.846C>T c.(844-846)ttC>ttT p.F282F RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.F82F|PLA2G15_ENST00000413021.2_Silent_p.F188F|PLA2G15_ENST00000566188.1_3'UTR NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 282 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 AGAAGGTGTTCGTGCAGACAC 0.577000 21 64 0 0 0.001523 0 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 112 0 0 0.001168 0 0 FAM161A 84140 broad.mit.edu 37 2 62063223 62063223 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:62063223C>A ENST00000404929.1 - 5 1784 c.1773G>T c.(1771-1773)atG>atT p.M591I FAM161A_ENST00000405894.3_Missense_Mutation_p.M535I NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 540 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGTATTCTCTCATCCTTTCCT 0.299000 53 145 5.13769e-22 7.27428e-22 0.003610 1 0 LRIG1 26018 broad.mit.edu 37 3 66434683 66434683 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:66434683G>A ENST00000383703.3 - 15 2478 c.1875C>T c.(1873-1875)ttC>ttT p.F625F LRIG1_ENST00000273261.3_Silent_p.F601F|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 601 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCGTTTTGGTGAATGATGGCA 0.547000 56 283 0 0 0.003610 0 0 DDB2 1643 broad.mit.edu 37 11 47254407 47254407 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47254407C>T ENST00000256996.4 + 4 694 c.499C>T c.(499-501)Ctc>Ttc p.L167F DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.L103F|DDB2_ENST00000378601.3_Missense_Mutation_p.L167F NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 167 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 GTTTAACCCTCTCAATACCAA 0.498000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 112 0 0 0.000978 0 0 NOTCH1 4851 broad.mit.edu 37 9 139390629 139390629 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:139390629G>A ENST00000277541.6 - 34 7637 c.7562C>T c.(7561-7563)tCc>tTc p.S2521F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2521 Poly-Ser. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGACGAGCTGGACCACTGGTC 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 33 0 0 0.000978 0 0 RPS6 6194 broad.mit.edu 37 9 19376375 19376375 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:19376375C>G ENST00000380394.4 - 6 724 c.666G>C c.(664-666)gaG>gaC p.E222D RPS6_ENST00000380384.1_Missense_Mutation_p.E191D|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000315377.4_Missense_Mutation_p.E191D NM_001010.2 NP_001001.2 P62753 RS6_HUMAN ribosomal protein S6 222 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding endometrium(3)|lung(2)|ovary(1)|urinary_tract(1) 7 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) CCTGGCGCTTCTCCTTAGCCT 0.448000 32 52 0 0 0.002096 0 0 TMEM18 129787 broad.mit.edu 37 2 675513 675513 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:675513G>T ENST00000281017.3 - 2 268 c.175C>A c.(175-177)Cta>Ata p.L59I TMEM18_ENST00000405941.3_Missense_Mutation_p.L62I|TMEM18_ENST00000355654.2_Missense_Mutation_p.L46I NM_152834.2 NP_690047.2 Q96B42 TMM18_HUMAN transmembrane protein 18 59 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) TACTCACCTAGACACAGAAAG 0.483000 9 113 3.86212e-05 5.13684e-05 0.008291 1 0 GPR84 53831 broad.mit.edu 37 12 54756605 54756605 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54756605C>G ENST00000551809.1 - 1 1666 c.1031G>C c.(1030-1032)aGa>aCa p.R344T RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R344T|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 344 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 AGCCTGGACTCTGGCATCCAG 0.537000 66 150 0 0 0.003610 0 0 SPG7 6687 broad.mit.edu 37 16 89611106 89611106 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:89611106G>T ENST00000268704.2 + 10 1390 c.1375G>T c.(1375-1377)Gac>Tac p.D459Y NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 459 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GAACCGAGCTGACATTTTGGA 0.602000 44 87 9.39024e-22 1.32722e-21 0.002222 1 0 KCTD2 23510 broad.mit.edu 37 17 73055613 73055613 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:73055613G>A ENST00000322444.6 + 4 555 c.549G>A c.(547-549)gtG>gtA p.V183V KCTD2_ENST00000581589.1_5'UTR NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 183 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) AGGGCCCCGTGAAGCACGTGT 0.527000 16 38 0 0 0.003163 0 0 EPB41L1 2036 broad.mit.edu 37 20 34776319 34776319 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:34776319C>T ENST00000338074.2 + 9 1085 c.924C>T c.(922-924)ctC>ctT p.L308L EPB41L1_ENST00000441639.1_Silent_p.L246L|EPB41L1_ENST00000373950.2_Silent_p.L211L|EPB41L1_ENST00000202028.5_Silent_p.L246L|EPB41L1_ENST00000373941.1_Silent_p.L308L|EPB41L1_ENST00000373946.3_Silent_p.L277L NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 308 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) ATGGCCTGCTCATCTACCGGG 0.562000 27 100 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9086405 9086405 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9086405C>T ENST00000397910.4 - 1 5613 c.5410G>A c.(5410-5412)Gaa>Aaa p.E1804K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1804 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGTATTTTCAGTGCTTCCC 0.463000 27 69 0 0 0.004656 0 0 CXCR4 7852 broad.mit.edu 37 2 136872950 136872950 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:136872950C>T ENST00000409817.1 - 1 863 c.560G>A c.(559-561)aGa>aAa p.R187K CXCR4_ENST00000241393.3_Missense_Mutation_p.R183K|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 183 Chemokine binding, important for signaling and HIV-1 coreceptor activity. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) ACAGATATATCTGTCATCTGC 0.507000 13 84 0 0 0.001368 0 0 CDK8 1024 broad.mit.edu 37 13 26928010 26928010 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:26928010G>C ENST00000381527.3 + 4 952 c.449G>C c.(448-450)aGa>aCa p.R150T CDK8_ENST00000536792.1_Missense_Mutation_p.R150T NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 150 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GTGTTGCACAGAGATTTGGTA 0.408000 7 44 0 0 0.004482 0 0 HSF2 3298 broad.mit.edu 37 6 122743440 122743440 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:122743440C>G ENST00000452194.1 + 8 1014 c.827C>G c.(826-828)tCc>tGc p.S276C HSF2_ENST00000368455.4_Missense_Mutation_p.S276C NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 276 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TCTGATCCCTCCAAGTAAGGA 0.274000 43 165 0 0 0.003610 0 0 AMPD1 270 broad.mit.edu 37 1 115236063 115236063 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:115236063C>A ENST00000353928.6 - 2 174 c.28G>T c.(28-30)Gag>Tag p.E10* AMPD1_ENST00000520113.2_Nonsense_Mutation_p.E43*|AMPD1_ENST00000369538.3_Intron NM_000036.2 NP_000027.2 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 10 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCACGTTTCTCTTCAGCTGTA 0.323000 22 75 1.64293e-13 2.28631e-13 0.003330 1 0 TDRD6 221400 broad.mit.edu 37 6 46660716 46660716 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46660716C>G ENST00000544460.1 + 1 5105 c.4851C>G c.(4849-4851)ctC>ctG p.L1617L TDRD6_ENST00000316081.6_Silent_p.L1617L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1617 Tudor 7. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CAAAAGCACTCTGGGCCATTC 0.423000 17 81 0 0 0.001523 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106797459 106797459 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:106797459G>C ENST00000265717.4 + 9 1208 c.949G>C c.(949-951)Gaa>Caa p.E317Q NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 317 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 TTTCATTGTAGAATCTGGAGA 0.343000 44 136 0 0 0.003610 0 0 ZNF513 130557 broad.mit.edu 37 2 27600477 27600477 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:27600477T>C ENST00000323703.6 - 4 1759 c.1561A>G c.(1561-1563)Agc>Ggc p.S521G ZNF513_ENST00000407879.1_Missense_Mutation_p.S459G NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 521 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCGAGAGCTCAAAACAGAG 0.632000 3 89 0 0 0.000248 0 0 PTPRJ 5795 broad.mit.edu 37 11 48152048 48152048 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:48152048C>T ENST00000418331.2 + 8 1747 c.1395C>T c.(1393-1395)gtC>gtT p.V465V PTPRJ_ENST00000440289.2_Silent_p.V465V NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 465 Fibronectin type-III 5. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGACAGTGGTCAGCACGACGG 0.468000 16 44 0 0 0.004007 0 0 LRFN1 57622 broad.mit.edu 37 19 39804678 39804678 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39804678G>C ENST00000248668.4 - 1 1298 c.1299C>G c.(1297-1299)ctC>ctG p.L433L NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 433 Fibronectin type-III. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGTTCGAGGTGAGCTCGGCTG 0.652000 6 44 0 0 0.003080 0 0 DHX34 9704 broad.mit.edu 37 19 47856631 47856631 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47856631C>T ENST00000328771.4 + 2 693 c.344C>T c.(343-345)aCg>aTg p.T115M NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 115 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GGCCCTGCCACGCGGGGCTCT 0.642000 27 161 0 0 0.005443 0 0 CTGF 1490 broad.mit.edu 37 6 132271151 132271151 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:132271151C>G ENST00000367976.3 - 4 891 c.691G>C c.(691-693)Gag>Cag p.E231Q NM_001901.2 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor 231 TSP type-1. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding p.E231Q(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CTCTGCTTCTCTAGCCTGCAG 0.537000 OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 31 0 0 0.004007 0 0 ISLR2 57611 broad.mit.edu 37 15 74427127 74427127 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:74427127G>C ENST00000361742.3 + 4 2801 c.2032G>C c.(2032-2034)Gat>Cat p.D678H ISLR2_ENST00000435464.1_Missense_Mutation_p.D678H|ISLR2_ENST00000565540.1_Missense_Mutation_p.D678H|ISLR2_ENST00000453268.2_Missense_Mutation_p.D678H|ISLR2_ENST00000419208.1_Missense_Mutation_p.D678H|ISLR2_ENST00000445793.1_Missense_Mutation_p.D678H|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.D678H NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 678 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GGAGGGCCTTGATGAAGACGC 0.667000 OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 52 0 0 0.002299 0 0 COL7A1 1294 broad.mit.edu 37 3 48612779 48612779 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48612779C>T ENST00000328333.8 - 73 6280 c.6173G>A c.(6172-6174)gGa>gAa p.G2058E COL7A1_ENST00000454817.1_Missense_Mutation_p.G2026E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2058 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCCTCTCTCCTGGCCTTCC 0.697000 26 30 0 0 0.007291 0 0 RBBP8 5932 broad.mit.edu 37 18 20564853 20564853 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:20564853G>A ENST00000399722.2 + 8 960 c.609G>A c.(607-609)atG>atA p.M203I RBBP8_ENST00000399725.2_Missense_Mutation_p.M203I|RBBP8_ENST00000327155.5_Missense_Mutation_p.M203I|RBBP8_ENST00000360790.5_Missense_Mutation_p.M203I NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 203 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CCTTAGAAATGAGAAAAGTTT 0.279000 Homologous recombination 9 61 0 0 0.006214 0 0 PTPRN2 5799 broad.mit.edu 37 7 157387990 157387990 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:157387990C>A ENST00000389413.3 - 16 2452 c.2349G>T c.(2347-2349)agG>agT p.R783S PTPRN2_ENST00000404321.2_Missense_Mutation_p.R835S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R812S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R774S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R795S NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 812 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R812R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGCGGGGTTCCTCGGGTCGT 0.532000 24 72 4.7796e-09 6.51181e-09 0.004656 1 0 GAREM 64762 broad.mit.edu 37 18 29848662 29848662 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:29848662C>A ENST00000399218.4 - 6 1855 c.1800G>T c.(1798-1800)gtG>gtT p.V600V GAREM_ENST00000269209.6_Silent_p.V601V NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 AATCAGTTTTCACTCGGTTAC 0.458000 15 46 1.05317e-09 1.44455e-09 0.002450 1 0 SBF2 81846 broad.mit.edu 37 11 9838482 9838482 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:9838482G>A ENST00000256190.8 - 29 4020 c.3883C>T c.(3883-3885)Cac>Tac p.H1295Y NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1295 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GAGGCCGAGTGATCCTTGCCT 0.507000 13 59 0 0 0.001368 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342254 60342254 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60342254C>T ENST00000581291.1 - 0 1899 breast(2)|kidney(1)|lung(2) 5 GAATGTCTCTCGAGCTGCACT 0.483000 18 124 0 0 0.004990 0 0 GRB14 2888 broad.mit.edu 37 2 165349549 165349549 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:165349549G>C ENST00000263915.3 - 14 2158 c.1620C>G c.(1618-1620)ctC>ctG p.L540L GRB14_ENST00000543549.1_Silent_p.L453L|GRB14_ENST00000497306.1_5'UTR NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 540 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GGCTTGTCTAGAGAGCAATCC 0.353000 18 47 0 0 0.006122 0 0 GFOD2 81577 broad.mit.edu 37 16 67709505 67709505 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:67709505C>T ENST00000268797.7 - 3 1056 c.711G>A c.(709-711)gtG>gtA p.V237V GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 237 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) AGTTGAGTGTCACTGTGCTAC 0.587000 22 60 0 0 0.001523 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089326 43089326 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:43089326G>A ENST00000359467.3 - 5 1186 c.1072C>T c.(1072-1074)Caa>Taa p.Q358* ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 358 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TGATTACATTGAAAGTGTTTC 0.418000 42 104 0 0 0.007835 0 0 SCN10A 6336 broad.mit.edu 37 3 38743465 38743465 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:38743465G>C ENST00000449082.2 - 26 4521 c.4522C>G c.(4522-4524)Ctg>Gtg p.L1508V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1508 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATTTTGCCCAGAATTTTCGTC 0.448000 14 94 0 0 0.002450 0 0 BDP1 55814 broad.mit.edu 37 5 70805391 70805391 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:70805391G>T ENST00000358731.4 + 17 2735 c.2472G>T c.(2470-2472)agG>agT p.R824S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 824 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAACTGGAAGGAGAGAAATTT 0.413000 14 106 6.72482e-11 9.29456e-11 0.003163 1 0 PLCG2 5336 broad.mit.edu 37 16 81960752 81960752 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:81960752C>G ENST00000359376.3 + 23 2697 c.2483C>G c.(2482-2484)tCa>tGa p.S828* NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 828 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GAGGACATCTCAACTGCAGAC 0.527000 59 144 0 0 0.003610 0 0 NSUN2 54888 broad.mit.edu 37 5 6620355 6620355 + Translation_Start_Site SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:6620355G>C ENST00000539938.1 - 0 905 NSUN2_ENST00000264670.6_Missense_Mutation_p.Q227E|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.Q192E Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CTCTTGGCTTGATGGACGAGC 0.522000 37 114 0 0 0.006230 0 0 SGCB 6443 broad.mit.edu 37 4 52894145 52894145 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:52894145C>G ENST00000381431.5 - 5 964 c.742G>C c.(742-744)Gag>Cag p.E248Q SGCB_ENST00000535450.1_Missense_Mutation_p.E178Q NM_000232.4 NP_000223.1 Q16585 SGCB_HUMAN sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 248 Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1) 17 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) GCCTTTAACTCCATATTACCA 0.333000 18 90 0 0 0.007413 0 0 MDH1B 130752 broad.mit.edu 37 2 207615685 207615685 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:207615685C>T ENST00000374412.3 - 6 1300 c.1025G>A c.(1024-1026)cGc>cAc p.R342H MDH1B_ENST00000449792.1_Missense_Mutation_p.R244H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R342H NM_001039845.1|NM_001282940.1 NP_001034934.1|NP_001269869.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 342 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TAAAACAGGGCGTGAATAATG 0.328000 12 46 0 0 0.000978 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37728859 37728859 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:37728859G>T ENST00000330843.4 - 4 3473 c.3461C>A c.(3460-3462)tCa>tAa p.S1154* RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1154 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTCCGAGGGTGAGACCCAGGC 0.542000 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 199 2.62699e-14 3.65886e-14 0.003163 1 0 SREBF1 6720 broad.mit.edu 37 17 17716007 17716007 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:17716007G>C ENST00000355815.4 - 20 3632 c.3463C>G c.(3463-3465)Cgc>Ggc p.R1155G SREBF1_ENST00000261646.5_Missense_Mutation_p.R1125G|SREBF1_ENST00000395757.1_Missense_Mutation_p.R871G|SREBF1_ENST00000338854.5_Intron NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 1125 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 AGCAGCCGGCGATCGCCAAGC 0.706000 3 12 0 0 0.004672 0 0 AQP5 362 broad.mit.edu 37 12 50355833 50355833 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:50355833C>T ENST00000293599.6 + 1 181 c.33C>T c.(31-33)ctC>ctT p.L11L RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 11 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 TGGCCTTCCTCAAGGCCGTGT 0.701000 12 34 0 0 0.001368 0 0 TRRAP 8295 broad.mit.edu 37 7 98548583 98548583 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:98548583G>C ENST00000359863.4 + 38 5607 c.5398G>C c.(5398-5400)Gaa>Caa p.E1800Q TRRAP_ENST00000355540.3_Missense_Mutation_p.E1782Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1781Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1800 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCCAATCCAGAAGGAGATAA 0.448000 69 238 0 0 0.003610 0 0 NPEPL1 79716 broad.mit.edu 37 20 57268911 57268911 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:57268911C>T ENST00000356091.6 + 2 557 c.269C>T c.(268-270)tCg>tTg p.S90L NPEPL1_ENST00000525967.1_Missense_Mutation_p.S62L|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S42L|STX16-NPEPL1_ENST00000530122.1_3'UTR NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 90 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) AACAGCCCCTCGGCCGCCCAC 0.682000 10 47 0 0 0.008291 0 0 USP31 57478 broad.mit.edu 37 16 23096215 23096215 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:23096215G>A ENST00000219689.7 - 11 1795 c.1796C>T c.(1795-1797)tCc>tTc p.S599F NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 599 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GAAACACTGGGATAAAGTGCA 0.488000 114 280 0 0 0.003610 0 0 TRMT1 55621 broad.mit.edu 37 19 13218411 13218411 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:13218411G>A ENST00000592062.1 - 15 2130 c.1560C>T c.(1558-1560)ttC>ttT p.F520F TRMT1_ENST00000221504.8_Silent_p.F491F|TRMT1_ENST00000437766.1_Silent_p.F520F|TRMT1_ENST00000357720.4_Silent_p.F520F Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 520 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TGAGAATGCGGAACGCTGGGC 0.582000 8 11 0 0 0.006214 0 0 SYNE1 23345 broad.mit.edu 37 6 152551728 152551728 + Missense_Mutation SNP C C G rs143639400 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:152551728C>G ENST00000367255.5 - 115 21750 c.21149G>C c.(21148-21150)cGa>cCa p.R7050P SYNE1_ENST00000265368.4_Missense_Mutation_p.R7050P|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1574P|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6979P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6662P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6979P NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7050 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCTCCAATTCGATGCTGTTG 0.393000 HNSCC(10;0.0054) 25 131 0 0 0.004656 0 0 ACLY 47 broad.mit.edu 37 17 40025364 40025364 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:40025364G>C ENST00000352035.2 - 27 3196 c.3066C>G c.(3064-3066)atC>atG p.I1022M ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000537919.1_Missense_Mutation_p.I751M|ACLY_ENST00000590151.1_Missense_Mutation_p.I1022M|ACLY_ENST00000393896.2_Missense_Mutation_p.I1012M|ACLY_ENST00000353196.1_Missense_Mutation_p.I1012M NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 1022 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTACATTCAGGATAAGATTTG 0.363000 13 294 0 0 0.002450 0 0 PEX12 5193 broad.mit.edu 37 17 33903113 33903113 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:33903113G>C ENST00000225873.4 - 3 1375 c.768C>G c.(766-768)ttC>ttG p.F256L NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 256 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACTGCAAGAAGAATACACCCA 0.468000 43 73 0 0 0.007835 0 0 CFHR1 3078 broad.mit.edu 37 1 196797272 196797272 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:196797272C>T ENST00000320493.5 + 4 591 c.503C>T c.(502-504)tCt>tTt p.S168F CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 168 Sushi 3. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AAATATCCATCTGGTGAGAGA 0.413000 17 26 0 0 0.006122 0 0 OR5T3 390154 broad.mit.edu 37 11 56020545 56020545 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:56020545G>A ENST00000303059.3 + 1 870 c.870G>A c.(868-870)atG>atA p.M290I NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M290I(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TCAGTTATATGAGACCAAGTT 0.403000 11 96 0 0 0.000978 0 0 SRP68 6730 broad.mit.edu 37 17 74068563 74068563 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74068563C>T ENST00000307877.2 - 1 171 c.10G>A c.(10-12)Gag>Aag p.E4K SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.E4K NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 4 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 ACCTGCTTCTCAGCAGCCATC 0.746000 23 80 0 0 0.002780 0 0 SYTL3 94120 broad.mit.edu 37 6 159184504 159184504 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:159184504G>T ENST00000297239.9 + 16 1880 c.1686G>T c.(1684-1686)atG>atT p.M562I SYTL3_ENST00000367081.3_Missense_Mutation_p.M288I|SYTL3_ENST00000360448.3_Missense_Mutation_p.M494I Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 562 C2 2. intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCTTTGGAATGAACGACCGCT 0.488000 13 85 1.5842e-08 2.15112e-08 0.001855 1 0 TNFRSF6B 8771 broad.mit.edu 37 20 62329778 62329778 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62329778G>A ENST00000369996.1 + 3 865 c.765G>A c.(763-765)ctG>ctA p.L255L RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 255 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) CCTTGCAGCTGAAGCTGCGTC 0.746000 9 14 0 0 0.006214 0 0 ZNF99 7652 broad.mit.edu 37 19 22940551 22940551 + Silent SNP A A C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:22940551A>C ENST00000397104.3 - 5 1886 c.1887T>G c.(1885-1887)ctT>ctG p.L629L ZNF99_ENST00000596209.1_Silent_p.L720L zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATGTTTTCTAAGAGTTGAGG 0.363000 15 64 0 0 0.003163 0 0 MAP2K7 5609 broad.mit.edu 37 19 7968919 7968919 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:7968919C>G ENST00000545011.1 + 1 155 c.90C>G c.(88-90)ctC>ctG p.L30L MAP2K7_ENST00000397979.3_Silent_p.L30L|MAP2K7_ENST00000397983.3_Silent_p.L30L|MAP2K7_ENST00000397981.3_Silent_p.L30L O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 30 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) GGATCGACCTCAACCTGGATA 0.746000 8 30 0 0 0.004482 0 0 VWA3A 146177 broad.mit.edu 37 16 22157565 22157565 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:22157565G>C ENST00000389398.5 + 27 2835 c.2739G>C c.(2737-2739)gtG>gtC p.V913V VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 913 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) AGGGAGTGGTGAGACACATCC 0.532000 10 24 0 0 0.008291 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42092078 42092078 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42092078G>A ENST00000457542.2 + 3 458 c.172G>A c.(172-174)Gac>Aac p.D58N MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D58N|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D58N|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D58N NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 58 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ACTTGCCTGTGACCCCCGATC 0.502000 57 162 0 0 0.003610 0 0 CHAF1A 10036 broad.mit.edu 37 19 4408975 4408975 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:4408975C>T ENST00000301280.5 + 3 280 c.179C>T c.(178-180)tCt>tTt p.S60F NM_005483.2 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 60 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTACTTCTGTGCAAAGT 0.473000 Chromatin Structure 69 145 0 0 0.003610 0 0 MDM1 56890 broad.mit.edu 37 12 68707440 68707440 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:68707440G>C ENST00000303145.7 - 10 1679 c.1593C>G c.(1591-1593)ctC>ctG p.L531L MDM1_ENST00000540418.1_Silent_p.L251L|MDM1_ENST00000411698.2_Silent_p.L496L NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 531 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CTGGAGTAGTGAGATCATGAT 0.408000 24 158 0 0 0.002780 0 0 SLC41A3 54946 broad.mit.edu 37 3 125735707 125735707 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:125735707G>C ENST00000383598.2 - 6 964 c.679C>G c.(679-681)Ctg>Gtg p.L227V SLC41A3_ENST00000346785.5_Missense_Mutation_p.L217V|SLC41A3_ENST00000315891.6_Missense_Mutation_p.L253V|SLC41A3_ENST00000508835.1_Missense_Mutation_p.L136V|SLC41A3_ENST00000360370.4_Missense_Mutation_p.L253V NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 253 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) AGCGGCGTCAGATACCGACTA 0.582000 3 41 0 0 0.004672 0 0 VCAN 1462 broad.mit.edu 37 5 82837871 82837871 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:82837871G>T ENST00000265077.3 + 8 9614 c.9049G>T c.(9049-9051)Gct>Tct p.A3017S VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A2030S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3017 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACTCAAGCAGCTTTAATCAG 0.498000 5 96 0.000602214 0.000796414 0.000602 1 0 MEGF6 1953 broad.mit.edu 37 1 3421837 3421837 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:3421837T>C ENST00000356575.4 - 17 2349 c.2123A>G c.(2122-2124)gAc>gGc p.D708G MEGF6_ENST00000294599.4_Missense_Mutation_p.D603G NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 708 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCTCACGGAGTCACAGGCCAC 0.692000 6 35 0 0 0.001168 0 0 ZNF471 57573 broad.mit.edu 37 19 57036421 57036421 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:57036421G>A ENST00000308031.5 + 5 1118 c.985G>A c.(985-987)Gat>Aat p.D329N ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Silent_p.V188V NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AGCCTTCAGTGATGGCTCGTC 0.433000 21 91 0 0 0.003954 0 0 SPRED3 399473 broad.mit.edu 37 19 38882867 38882867 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:38882867C>T ENST00000587013.1 + 3 572 c.494C>T c.(493-495)tCc>tTc p.S165F SPRED3_ENST00000586301.1_Missense_Mutation_p.S121F|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_Missense_Mutation_p.S121F Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 121 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTCAccccctcctcctcctcc 0.647000 15 20 0 0 0.002450 0 0 CIT 11113 broad.mit.edu 37 12 120288075 120288075 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:120288075G>A ENST00000392521.2 - 5 474 c.419C>T c.(418-420)tCa>tTa p.S140L CIT_ENST00000261833.7_Missense_Mutation_p.S140L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 140 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTCAAAAAATGAAACCTAGGG 0.393000 71 202 0 0 0.003610 0 0 ELAVL1 1994 broad.mit.edu 37 19 8032455 8032455 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:8032455C>G ENST00000407627.2 - 5 779 c.650G>C c.(649-651)aGa>aCa p.R217T ELAVL1_ENST00000351593.5_Missense_Mutation_p.R244T|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R217T|ELAVL1_ENST00000593807.1_Intron NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 217 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CCACCTGAATCTCTGCGCCTG 0.622000 8 24 0 0 0.004482 0 0 HERC2P3 283755 broad.mit.edu 37 15 20651261 20651261 + RNA SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:20651261A>G ENST00000428453.1 - 0 2376 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCTTGAGCAGAAGCATTCATA 0.498000 29 125 0 0 0.003755 0 0 NR6A1 2649 broad.mit.edu 37 9 127289083 127289083 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:127289083C>T ENST00000487099.2 - 8 1333 c.1176G>A c.(1174-1176)atG>atA p.M392I NR6A1_ENST00000344523.4_Missense_Mutation_p.M391I|NR6A1_ENST00000416460.2_Missense_Mutation_p.M387I|NR6A1_ENST00000373584.3_Missense_Mutation_p.M388I NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 392 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 TAATTGCTTTCATGCAAGCAT 0.498000 35 99 0 0 0.005524 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632044 156632044 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:156632044G>C ENST00000296518.7 + 6 936 c.727G>C c.(727-729)Gat>Cat p.D243H GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D243H|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D243H Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 243 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTTCCATAATGATTGCAGCGA 0.502000 32 103 0 0 0.002836 0 0 HEXB 3074 broad.mit.edu 37 5 73981280 73981280 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:73981280G>A ENST00000261416.7 + 1 312 c.195G>A c.(193-195)atG>atA p.M65I HEXB_ENST00000511181.1_Intron NM_000521.3 NP_000512 P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 65 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TGGTGAAGATGACCCCGAACC 0.697000 10 20 0 0 0.008291 0 0 TOP1MT 116447 broad.mit.edu 37 8 144411579 144411579 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:144411579C>T ENST00000523676.1 - 4 412 c.7G>A c.(7-9)Gat>Aat p.D3N TOP1MT_ENST00000329245.4_Missense_Mutation_p.D101N|TOP1MT_ENST00000521193.1_Missense_Mutation_p.D3N|TOP1MT_ENST00000519148.1_Missense_Mutation_p.D3N Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 101 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TATTCATGATCTAACATCCTC 0.547000 15 121 0 0 0.003163 0 0 FGL1 2267 broad.mit.edu 37 8 17739572 17739572 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:17739572G>C ENST00000398056.2 - 5 995 c.180C>G c.(178-180)gtC>gtG p.V60V FGL1_ENST00000522444.1_Silent_p.V60V|FGL1_ENST00000381840.2_Silent_p.V60V|FGL1_ENST00000518650.1_Silent_p.V60V|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000398054.1_Silent_p.V60V|FGL1_ENST00000381841.2_Silent_p.V60V|FGL1_ENST00000427924.1_Silent_p.V60V Q08830 FGL1_HUMAN fibrinogen-like 1 60 signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CAAGGAACTGGACTTCATTCT 0.478000 36 83 0 0 0.002836 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101075 27101075 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:27101075G>C ENST00000359193.2 + 1 244 c.225G>C c.(223-225)aaG>aaC p.K75N NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 75 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 GCGACAACAAGAAGACCCGCA 0.662000 16 91 0 0 0.004990 0 0 UBE2O 63893 broad.mit.edu 37 17 74387651 74387651 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74387651G>A ENST00000319380.7 - 18 3316 c.3252C>T c.(3250-3252)ttC>ttT p.F1084F NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1084 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GGTCACTGTCGAAGCCGGCTT 0.577000 45 121 0 0 0.003610 0 0 TRPM2 7226 broad.mit.edu 37 21 45838307 45838307 + Splice_Site SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:45838307G>C ENST00000397928.1 + 22 3775 c.3330G>C c.(3328-3330)aaG>aaC p.K1110N TRPM2_ENST00000300482.5_Splice_Site_p.K1110N|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Splice_Site_p.K1090N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Splice_Site_p.K1110N NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1110 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCCTGACAGAGAACAAGCTGG 0.642000 7 57 0 0 0.003080 0 0 TSC1 7248 broad.mit.edu 37 9 135776115 135776115 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:135776115G>C ENST00000298552.3 - 20 2833 c.2612C>G c.(2611-2613)tCa>tGa p.S871* TSC1_ENST00000440111.2_Nonsense_Mutation_p.S871*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.S820* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 871 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGTGGTATCTGAGTGCTTGTT 0.527000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 54 82 0 0 0.003610 0 0 OR8K1 390157 broad.mit.edu 37 11 56114212 56114212 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:56114212G>C ENST00000279783.2 + 1 792 c.698G>C c.(697-699)aGa>aCa p.R233T NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) GCCATTCTCAGAATGAACTCA 0.378000 HNSCC(65;0.19) 13 53 0 0 0.001368 0 0 DDX21 9188 broad.mit.edu 37 10 70719870 70719870 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:70719870G>A ENST00000354185.4 + 2 494 c.396G>A c.(394-396)aaG>aaA p.K132K NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 132 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding p.K132K(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGCCCAAGAAGATGAAGAAAG 0.408000 11 42 0 0 0.008291 0 0 SF3B3 23450 broad.mit.edu 37 16 70589022 70589022 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:70589022G>C ENST00000302516.5 + 13 1834 c.1623G>C c.(1621-1623)aaG>aaC p.K541N NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 541 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CCCCTGGAAAGAAAACAATTG 0.453000 46 93 0 0 0.003214 0 0 PTPN12 5782 broad.mit.edu 37 7 77256781 77256781 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:77256781C>T ENST00000248594.6 + 13 2057 c.1785C>T c.(1783-1785)ctC>ctT p.L595L PTPN12_ENST00000415482.2_Silent_p.L476L|PTPN12_ENST00000435495.2_Silent_p.L465L NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 595 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 GAACACCCCTCAGTTTTACTA 0.403000 44 134 0 0 0.002852 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234744657 234744657 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:234744657G>A ENST00000366609.3 - 1 614 c.584C>T c.(583-585)tCg>tTg p.S195L IRF2BP2_ENST00000366610.3_Missense_Mutation_p.S195L|RP4-781K5.2_ENST00000436039.1_RNA NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 195 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CGGCGTGGCCGAGCCGTTCAT 0.766000 7 15 0 0 0.001984 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177499 89177499 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:89177499G>A ENST00000561129.2 + 1 545 c.415G>A c.(415-417)Gag>Aag p.E139K TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E139K Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 GCAGAGCACCGAGGCGTCTGT 0.582000 30 33 0 0 0.001786 0 0 REG1P 5969 broad.mit.edu 37 2 79365040 79365040 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:79365040G>A ENST00000444841.1 - 0 166 AGGATAGAGTGAGGGCTTCAG 0.473000 4 9 0 0 0.000248 0 0 IRF6 3664 broad.mit.edu 37 1 209974759 209974759 + Translation_Start_Site SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:209974759G>C ENST00000367021.3 - 0 172 IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGAGGGCCATGATCTGGGGGG 0.592000 HNSCC(57;0.16) 9 98 0 0 0.008291 0 0 ITFG2 55846 broad.mit.edu 37 12 2933049 2933049 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:2933049C>T ENST00000228799.2 + 11 1319 c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L ITFG2_ENST00000542548.1_Silent_p.L282L|ITFG2_ENST00000419778.2_Silent_p.L217L NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 394 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GTCTACCAATCTGGTGAAACT 0.582000 43 97 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21132097 21132097 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:21132097C>G ENST00000261383.3 - 11 1662 c.1663G>C c.(1663-1665)Gag>Cag p.E555Q CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E555Q NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 555 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATGCTGGGCTCTCCTGGCTCA 0.507000 15 38 0 0 0.004007 0 0 KRT37 8688 broad.mit.edu 37 17 39580750 39580750 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39580750G>A ENST00000225550.3 - 1 25 c.26C>T c.(25-27)tCa>tTa p.S9L AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 9 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CAGAGGGCATGAGGAGGTGCT 0.577000 28 94 0 0 0.002096 0 0 GABRA6 2559 broad.mit.edu 37 5 161116300 161116300 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:161116300T>G ENST00000523217.1 + 5 699 c.457T>G c.(457-459)Ttt>Gtt p.F153V GABRA6_ENST00000274545.5_Missense_Mutation_p.F163V|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 163 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCTGGTTAACTTTCCTATGGA 0.398000 TCGA Ovarian(5;0.080) 23 89 0 0 0.004656 0 0 TIMM8A 1678 broad.mit.edu 37 X 100603636 100603636 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:100603636G>C ENST00000372902.3 - 1 548 c.17C>G c.(16-18)tCt>tGt p.S6C TIMM8A_ENST00000480575.1_5'UTR NM_004085.3 NP_004076.1 O60220 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 homolog A (yeast) 6 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding endometrium(1)|lung(1) 2 CGCGGAGGAAGAGGAGGAGGA 0.607000 21 29 0 0 0.003330 0 0 GPR161 23432 broad.mit.edu 37 1 168054780 168054780 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:168054780C>T ENST00000367838.1 - 8 1892 c.1579G>A c.(1579-1581)Gag>Aag p.E527K GPR161_ENST00000367836.1_Missense_Mutation_p.E395K|GPR161_ENST00000537209.1_Missense_Mutation_p.E547K|GPR161_ENST00000367835.1_Missense_Mutation_p.E527K|GPR161_ENST00000361697.2_Missense_Mutation_p.E527K|GPR161_ENST00000539777.1_Missense_Mutation_p.E449K|GPR161_ENST00000546300.1_Missense_Mutation_p.E413K|GPR161_ENST00000271357.5_Missense_Mutation_p.E527K NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 527 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CATCTCTGCTCGGCAGCTAAA 0.667000 17 81 0 0 0.004007 0 0 OR11A1 26531 broad.mit.edu 37 6 29394644 29394644 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:29394644A>G ENST00000377149.1 - 5 1247 c.775T>C c.(775-777)Ttt>Ctt p.F259L OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.F259L|OR11A1_ENST00000377148.1_Missense_Mutation_p.F259L Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 GCAACATAAAAGATCATGAGC 0.522000 15 89 0 0 0.003163 0 0 TBC1D9 23158 broad.mit.edu 37 4 141555214 141555214 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:141555214G>C ENST00000442267.2 - 16 2708 c.2634C>G c.(2632-2634)ctC>ctG p.L878L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 878 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CCCAAGGAAAGAGAAGAGCAA 0.522000 8 32 0 0 0.003080 0 0 SMG1 23049 broad.mit.edu 37 16 18856931 18856931 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:18856931C>G ENST00000446231.2 - 39 6451 c.6039G>C c.(6037-6039)ttG>ttC p.L2013F SMG1_ENST00000389467.3_Missense_Mutation_p.L2013F Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2013 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TGGGCTTCATCAAAGCTGTGT 0.388000 32 150 0 0 0.003755 0 0 STEAP3 55240 broad.mit.edu 37 2 120003084 120003084 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:120003084G>C ENST00000354888.5 + 3 516 c.12G>C c.(10-12)gaG>gaC p.E4D STEAP3_ENST00000393106.2_Missense_Mutation_p.E4D|STEAP3_ENST00000450943.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393107.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393110.2_Missense_Mutation_p.E14D|STEAP3_ENST00000409811.1_Missense_Mutation_p.E4D|STEAP3_ENST00000425223.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393108.2_Missense_Mutation_p.E4D|STEAP3-AS1_ENST00000454260.1_RNA NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 4 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 TGCCAGAAGAGATGGACAAGC 0.587000 5 55 0 0 0.001168 0 0 HYDIN 54768 broad.mit.edu 37 16 70843806 70843806 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:70843806C>T ENST00000393567.2 - 85 14913 c.14763G>A c.(14761-14763)ctG>ctA p.L4921L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4921 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCGTGGCTTTCAGATAGAGCT 0.468000 196 479 0 0 0.003610 0 0 SHANK1 50944 broad.mit.edu 37 19 51165245 51165245 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:51165245G>A ENST00000293441.1 - 23 6481 c.6463C>T c.(6463-6465)Ctc>Ttc p.L2155F SHANK1_ENST00000391814.1_Missense_Mutation_p.L2163F|SHANK1_ENST00000359082.3_Missense_Mutation_p.L2146F|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.L1542F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2155 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AAGAATTTGAGAGCCCGGTCG 0.612000 26 89 0 0 0.005443 0 0 NIPAL2 79815 broad.mit.edu 37 8 99234791 99234791 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:99234791C>A ENST00000341166.3 - 5 729 c.474G>T c.(472-474)gtG>gtT p.V158V NIPAL2_ENST00000430223.2_Silent_p.V158V|NIPAL2_ENST00000520545.1_5'UTR NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 158 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 GAGCAAAGTTCACCAGTAAAT 0.363000 17 130 3.52763e-06 4.73461e-06 0.004990 1 0 IER3IP1 51124 broad.mit.edu 37 18 44702592 44702592 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:44702592G>T ENST00000256433.3 - 1 153 c.57C>A c.(55-57)atC>atA p.I19I IER3IP1_ENST00000588705.1_Silent_p.I19I NM_016097.4 NP_057181.1 Q9Y5U9 IR3IP_HUMAN immediate early response 3 interacting protein 1 19 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane large_intestine(1) 1 GCAGCACTGCGATGGCGTTGA 0.677000 6 16 3.59834e-05 4.78992e-05 0.001168 1 0 CARD11 84433 broad.mit.edu 37 7 2957020 2957020 + Splice_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:2957020C>G ENST00000396946.4 - 20 3011 c.e20-1 NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCAGGGTGTTCTGAAATGAAT 0.562000 Mis DLBCL 19 45 0 0 0.007413 0 0 STEAP1 26872 broad.mit.edu 37 7 89789150 89789150 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:89789150G>A ENST00000297205.2 + 2 248 c.48G>A c.(46-48)atG>atA p.M16I STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 16 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) TTTGGAAAATGAAGCCTAGGA 0.259000 10 105 0 0 0.008291 0 0 RRM2 6241 broad.mit.edu 37 2 10269373 10269373 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:10269373G>C ENST00000360566.2 + 10 1501 c.1210G>C c.(1210-1212)Gag>Cag p.E404Q RRM2_ENST00000304567.5_Missense_Mutation_p.E344Q NM_001165931.1 NP_001159403.1 P31350 RIR2_HUMAN ribonucleotide reductase M2 344 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) TTTCAGAGTAGAGAACCCATT 0.378000 9 53 0 0 0.004482 0 0 ATP4B 496 broad.mit.edu 37 13 114309237 114309237 + Missense_Mutation SNP C C T rs142885298 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:114309237C>T ENST00000335288.4 - 2 174 c.133G>A c.(133-135)Gtg>Atg p.V45M NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 45 ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) TAGAAGGCCACGTAGTACAGG 0.557000 34 51 0 0 0.002836 0 0 ELK4 2005 broad.mit.edu 37 1 205589767 205589767 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:205589767G>T ENST00000357992.4 - 3 746 c.407C>A c.(406-408)tCt>tAt p.S136Y ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.S136Y NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) ATTGCGGCTAGAGGTCTTGGC 0.418000 T SLC45A3 prostate 10 107 2.74318e-10 3.77856e-10 0.006214 1 0 CSMD2 114784 broad.mit.edu 37 1 33985159 33985159 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:33985159C>T ENST00000373381.4 - 70 11031 c.10855G>A c.(10855-10857)Gag>Aag p.E3619K NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3475 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AACTCCGCCTCGCTGGCCATG 0.612000 44 178 0 0 0.002222 0 0 POTEA 340441 broad.mit.edu 37 8 43197332 43197332 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:43197332C>G ENST00000522175.2 + 0 1085 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCTTACAGGTCAAAAGCCAAA 0.318000 4 44 0 0 0.001168 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657378 100657378 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:100657378C>G ENST00000416321.1 - 2 453 c.451G>C c.(451-453)Gaa>Caa p.E151Q NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 151 DEP. intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 TTGGAATCTTCAAATTCTAAT 0.333000 18 39 0 0 0.004990 0 0 GFAP 2670 broad.mit.edu 37 17 42987985 42987985 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:42987985C>G ENST00000253408.5 - 7 1234 c.1169G>C c.(1168-1170)cGa>cCa p.R390P GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.R390P|GFAP_ENST00000586793.1_Missense_Mutation_p.R390P NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 390 Tail. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) GTACTGACCTCGAATCTGCAG 0.622000 4 3 0 0 0.000248 0 0 ZNF532 55205 broad.mit.edu 37 18 56585882 56585882 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:56585882G>A ENST00000336078.4 + 4 1139 c.363G>A c.(361-363)ctG>ctA p.L121L ZNF532_ENST00000591083.1_Silent_p.L121L|ZNF532_ENST00000591230.1_Silent_p.L121L|ZNF532_ENST00000589288.1_Silent_p.L121L|ZNF532_ENST00000591808.1_Silent_p.L121L NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AGGTGACACTGAAAGACTCGA 0.493000 21 97 0 0 0.002299 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166844058 166844058 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:166844058C>T ENST00000510118.1 - 18 1879 c.1539G>A c.(1537-1539)ctG>ctA p.L513L RPS6KA2_ENST00000405189.3_Silent_p.L399L|RPS6KA2_ENST00000503859.1_Silent_p.L496L|RPS6KA2_ENST00000481261.2_Silent_p.L399L|RPS6KA2_ENST00000265678.4_Silent_p.L488L Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 488 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CACCACGCATCAGCTCCATTA 0.577000 14 45 0 0 0.002450 0 0 FEZF1 389549 broad.mit.edu 37 7 121943827 121943827 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:121943827G>C ENST00000442488.2 - 1 732 c.665C>G c.(664-666)tCc>tGc p.S222C FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S222C|FEZF1_ENST00000427185.2_Missense_Mutation_p.S172C NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 222 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 CTGAGCCTGGGACAGGTCTTT 0.512000 27 87 0 0 0.005443 0 0 RASA4CP 401331 broad.mit.edu 37 7 44073746 44073746 + RNA SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44073746G>A ENST00000446874.1 - 0 366 GACGGATGCAGAGCCCGGGAC 0.627000 3 17 0 0 0.004672 0 0 FN1 2335 broad.mit.edu 37 2 216273063 216273063 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:216273063C>A ENST00000354785.4 - 16 2755 c.2386G>T c.(2386-2388)Gat>Tat p.D796Y FN1_ENST00000446046.1_Missense_Mutation_p.D796Y|FN1_ENST00000323926.6_Missense_Mutation_p.D796Y|FN1_ENST00000356005.4_Missense_Mutation_p.D796Y|FN1_ENST00000359671.1_Missense_Mutation_p.D796Y|FN1_ENST00000346544.3_Missense_Mutation_p.D796Y|FN1_ENST00000421182.1_Missense_Mutation_p.D796Y|FN1_ENST00000357009.2_Missense_Mutation_p.D796Y|FN1_ENST00000357867.4_Missense_Mutation_p.D796Y|FN1_ENST00000443816.1_Missense_Mutation_p.D796Y|FN1_ENST00000336916.4_Missense_Mutation_p.D796Y|FN1_ENST00000345488.5_Missense_Mutation_p.D796Y|FN1_ENST00000432072.2_Missense_Mutation_p.D796Y P02751 FINC_HUMAN fibronectin 1 796 Fibronectin type-III 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCTCCCCATCCTCAGATATC 0.408000 24 67 1.22574e-08 1.66717e-08 0.002299 1 0 GIGYF1 64599 broad.mit.edu 37 7 100283618 100283618 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100283618C>G ENST00000275732.5 - 9 2242 c.1033G>C c.(1033-1035)Gag>Cag p.E345Q GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 345 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCTTCCTCCTCTAGCCCTTCG 0.687000 12 32 0 0 0.001855 0 0 AHSA1 10598 broad.mit.edu 37 14 77934848 77934848 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:77934848G>A ENST00000216479.3 + 8 1001 c.841G>A c.(841-843)Gag>Aag p.E281K AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.E281K NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 281 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) ATCTTGGCCAGAGGGTAAGTA 0.343000 18 61 0 0 0.008871 0 0 KCNQ5 56479 broad.mit.edu 37 6 73751754 73751754 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:73751754G>A ENST00000342056.2 + 3 983 c.585G>A c.(583-585)ctG>ctA p.L195L KCNQ5_ENST00000402622.2_Silent_p.L195L|KCNQ5_ENST00000370398.1_Silent_p.L195L|KCNQ5_ENST00000403813.2_Silent_p.L195L|KCNQ5_ENST00000355635.3_Silent_p.L195L|KCNQ5_ENST00000370392.1_Silent_p.L195L|KCNQ5_ENST00000355194.4_Silent_p.L195L|KCNQ5_ENST00000414165.2_Silent_p.L195L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 195 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAGGAAGACTGAGGTTTGCTC 0.438000 27 122 0 0 0.007291 0 0 ERCC6 2074 broad.mit.edu 37 10 50690842 50690842 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:50690842G>C ENST00000355832.5 - 10 2138 c.2060C>G c.(2059-2061)tCg>tGg p.S687W ERCC6_ENST00000542458.1_Missense_Mutation_p.S57W NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 687 Helicase ATP-binding. S -> L (in CSB). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTCAAAGAGCGACCACAGCTC 0.483000 Direct reversal of damage;Nucleotide excision repair (NER) 35 64 0 0 0.004878 0 0 EPHA10 284656 broad.mit.edu 37 1 38192827 38192827 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:38192827G>A ENST00000373048.4 - 8 1718 c.1719C>T c.(1717-1719)atC>atT p.I573I EPHA10_ENST00000540011.1_Silent_p.I68I|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.I573I|EPHA10_ENST00000330210.7_Silent_p.I68I NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 573 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGAGGGCCGAGATGGTCACTA 0.637000 6 26 0 0 0.001168 0 0 MPP3 4356 broad.mit.edu 37 17 41879119 41879119 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:41879119C>G ENST00000398393.1 - 18 2043 c.1783G>C c.(1783-1785)Gag>Cag p.E595Q MPP3_ENST00000398389.4_Missense_Mutation_p.E570Q Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 570 signal transduction cell surface|integral to plasma membrane guanylate kinase activity p.E570Q(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CTCAGCTTCTCTAAGACCACT 0.537000 46 99 0 0 0.003610 0 0 DDX10 1662 broad.mit.edu 37 11 108577549 108577549 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:108577549C>T ENST00000526794.1 + 10 1339 c.1307C>T c.(1306-1308)cCt>cTt p.P436L DDX10_ENST00000322536.3_Missense_Mutation_p.P436L Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 436 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AAGAAAGTACCTGTGAAGGAA 0.373000 T NUP98 AML* 27 154 0 0 0.005443 0 0 ACAP2 23527 broad.mit.edu 37 3 195102746 195102746 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:195102746C>A ENST00000326793.6 - 3 347 c.117G>T c.(115-117)gtG>gtT p.V39V NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 39 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 TACAAAGTTTCACAAGCTGAA 0.338000 13 24 1.15088e-07 1.55622e-07 0.004007 1 0 MTMR6 9107 broad.mit.edu 37 13 25826037 25826037 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:25826037G>A ENST00000381801.5 - 12 2193 c.1432C>T c.(1432-1434)Cac>Tac p.H478Y MTMR6_ENST00000540661.1_Missense_Mutation_p.H478Y NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 478 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTAAATCTGTGAGATTCGGAA 0.323000 29 204 0 0 0.008361 0 0 RHOT1 55288 broad.mit.edu 37 17 30519316 30519316 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:30519316C>G ENST00000358365.3 + 9 864 c.637C>G c.(637-639)Cag>Gag p.Q213E RHOT1_ENST00000354266.3_Missense_Mutation_p.Q192E|RHOT1_ENST00000333942.6_Missense_Mutation_p.Q213E|RHOT1_ENST00000545287.2_Missense_Mutation_p.Q213E|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.Q213E|RHOT1_ENST00000394692.2_Missense_Mutation_p.Q213E|RHOT1_ENST00000583994.1_Missense_Mutation_p.Q86E NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 213 EF-hand 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CAACTTCTTTCAGGTAATGGT 0.303000 13 59 0 0 0.001368 0 0 DNAH17 8632 broad.mit.edu 37 17 76451810 76451810 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:76451810G>A ENST00000389840.5 - 63 10168 c.10044C>T c.(10042-10044)ttC>ttT p.F3348F DNAH17_ENST00000585328.1_Silent_p.F3357F|DNAH17_ENST00000586052.1_Intron dynein, axonemal, heavy chain 17 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) CGTAGGACACGAAGGCAGAGA 0.522000 9 21 0 0 0.004482 0 0 TICRR 90381 broad.mit.edu 37 15 90168528 90168528 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:90168528G>C ENST00000268138.7 + 20 5092 c.4987G>C c.(4987-4989)Gat>Cat p.D1663H TICRR_ENST00000560985.1_Missense_Mutation_p.D1662H|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator ATTTCAAACAGATGGGGTTCC 0.592000 10 92 0 0 0.006214 0 0 FASTKD3 79072 broad.mit.edu 37 5 7861360 7861360 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:7861360C>G ENST00000264669.5 - 6 1922 c.1786G>C c.(1786-1788)Gat>Cat p.D596H FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 596 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTTGGACCATCAATACACAGT 0.294000 22 87 0 0 0.002780 0 0 PDE3A 5139 broad.mit.edu 37 12 20801786 20801786 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:20801786G>A ENST00000359062.3 + 13 2770 c.2730G>A c.(2728-2730)ctG>ctA p.L910L PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 910 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCACTGACCTGAAGAAACACT 0.363000 31 64 0 0 0.003271 0 0 DGKG 1608 broad.mit.edu 37 3 185879433 185879433 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:185879433T>C ENST00000265022.3 - 24 2775 c.2236A>G c.(2236-2238)Atg>Gtg p.M746V DGKG_ENST00000382164.4_Missense_Mutation_p.M707V|DGKG_ENST00000344484.4_Missense_Mutation_p.M721V|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Missense_Mutation_p.M687V NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 746 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCACTTGCATTGGCAGCAGC 0.483000 8 65 0 0 0.006214 0 0 DMXL2 23312 broad.mit.edu 37 15 51772908 51772908 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51772908C>G ENST00000251076.5 - 24 6682 c.6395G>C c.(6394-6396)aGa>aCa p.R2132T RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1496T|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2132T NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2132 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CTGCAATCTTCTTCTTTCTAT 0.423000 33 136 0 0 0.002836 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65349978 65349978 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:65349978C>T ENST00000284037.5 + 21 3221 c.2832C>T c.(2830-2832)ttC>ttT p.F944F ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Silent_p.F944F|ERBB2IP_ENST00000508515.1_Silent_p.F944F|ERBB2IP_ENST00000380936.1_Silent_p.F944F|ERBB2IP_ENST00000380935.1_Silent_p.F944F|ERBB2IP_ENST00000380938.2_Silent_p.F944F|ERBB2IP_ENST00000380939.2_Silent_p.F944F|ERBB2IP_ENST00000511297.1_Silent_p.F940F|ERBB2IP_ENST00000506030.1_Silent_p.F944F NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 944 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGGCAATTTTCAAGTTTGATT 0.403000 11 69 0 0 0.008291 0 0 C1orf35 79169 broad.mit.edu 37 1 228290054 228290054 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:228290054C>G ENST00000272139.4 - 5 638 c.404G>C c.(403-405)cGa>cCa p.R135P C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 135 large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) CTTGTCCTCTCGGGACATCGC 0.692000 4 18 0 0 0.000602 0 0 FGFR3 2261 broad.mit.edu 37 4 1806119 1806119 + Missense_Mutation SNP G G A rs28931614 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:1806119G>A ENST00000340107.4 + 9 1400 c.1144G>A c.(1144-1146)Ggg>Agg p.G382R FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000260795.2_Missense_Mutation_p.G380R|FGFR3_ENST00000352904.1_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 380 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G380R(13)|p.G382R(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTCAGCTACGGGGTGGGCTT 0.672000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 167 154 0 0 0.003610 0 0 GPC1 2817 broad.mit.edu 37 2 241404929 241404929 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:241404929G>C ENST00000264039.2 + 8 1556 c.1308G>C c.(1306-1308)caG>caC p.Q436H NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 436 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) TGGCCAACCAGATCAACAACC 0.627000 4 42 0 0 0.000248 0 0 THOC6 79228 broad.mit.edu 37 16 3077242 3077242 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:3077242C>T ENST00000326266.8 + 11 1067 c.771C>T c.(769-771)atC>atT p.I257I THOC6_ENST00000253952.9_Silent_p.I257I|THOC6_ENST00000574549.1_Silent_p.I233I|THOC6_ENST00000575576.1_Silent_p.I233I NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 257 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 TCTTCCCCATCCGGGCGCCAC 0.637000 38 87 0 0 0.004289 0 0 OR4D11 219986 broad.mit.edu 37 11 59271963 59271963 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:59271963C>T ENST00000313253.1 + 1 915 c.915C>T c.(913-915)ctC>ctT p.L305L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 AGAGAAGACTCGTGCCTTCTG 0.527000 11 53 0 0 0.008291 0 0 CCDC13 152206 broad.mit.edu 37 3 42799750 42799750 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:42799750T>C ENST00000310232.6 - 2 171 c.88A>G c.(88-90)Atg>Gtg p.M30V CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 30 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TTTTTCTCCATCTGCTTCTGT 0.527000 3 108 0 0 0.000248 0 0 ZNF624 57547 broad.mit.edu 37 17 16525625 16525625 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:16525625G>C ENST00000311331.7 - 6 2666 c.2575C>G c.(2575-2577)Caa>Gaa p.Q859E NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 859 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GTTTCTCTTTGATGTATTCTT 0.323000 21 69 0 0 0.002780 0 0 MIB2 142678 broad.mit.edu 37 1 1564037 1564037 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:1564037C>G ENST00000357210.4 + 16 2527 c.2311C>G c.(2311-2313)Cag>Gag p.Q771E MIB2_ENST00000505820.2_Missense_Mutation_p.Q828E|MIB2_ENST00000360522.4_Missense_Mutation_p.Q736E|MIB2_ENST00000378710.3_Missense_Mutation_p.Q735E|MIB2_ENST00000504599.1_Missense_Mutation_p.Q727E|MIB2_ENST00000518681.1_Missense_Mutation_p.Q763E|MIB2_ENST00000378712.1_Missense_Mutation_p.Q648E|MIB2_ENST00000520777.1_Missense_Mutation_p.Q824E|MIB2_ENST00000355826.5_Missense_Mutation_p.Q814E|MIB2_ENST00000378708.1_Missense_Mutation_p.Q677E NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 771 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCAGCGTCATCAGCTGCTGCC 0.701000 4 5 0 0 0.000248 0 0 ATG2A 23130 broad.mit.edu 37 11 64665196 64665196 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64665196C>T ENST00000421419.2 - 36 5134 c.5020G>A c.(5020-5022)Gag>Aag p.E1674K ATG2A_ENST00000377264.3_Missense_Mutation_p.E1672K Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1672 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ATGGGGACCTCAGACGTGAAG 0.647000 12 48 0 0 0.001368 0 0 ZHX3 23051 broad.mit.edu 37 20 39832342 39832342 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:39832342G>A ENST00000309060.3 - 4 1630 c.1215C>T c.(1213-1215)ctC>ctT p.L405L ZHX3_ENST00000432768.2_Silent_p.L405L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Silent_p.L405L|ZHX3_ENST00000540170.1_Silent_p.L405L|ZHX3_ENST00000559234.1_Silent_p.L405L|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.L405L Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 405 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CGGCCTGGATGAGATGCTGGA 0.542000 24 100 0 0 0.003954 0 0 RYR1 6261 broad.mit.edu 37 19 39034011 39034011 + Missense_Mutation SNP A A C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39034011A>C ENST00000355481.4 + 84 11830 c.11699A>C c.(11698-11700)cAg>cCg p.Q3900P RYR1_ENST00000359596.3_Missense_Mutation_p.Q3905P|RYR1_ENST00000360985.3_Missense_Mutation_p.Q3900P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3905 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTACGGACACAGACAGGGAAC 0.493000 28 153 0 0 0.007291 0 0 PLAA 9373 broad.mit.edu 37 9 26905860 26905860 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:26905860C>G ENST00000397292.3 - 14 2454 c.2037G>C c.(2035-2037)caG>caC p.Q679H NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 679 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GTGATTCCCTCTGGGACATCA 0.443000 21 37 0 0 0.001523 0 0 OR4M2 390538 broad.mit.edu 37 15 22369079 22369079 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:22369079C>T ENST00000332663.2 + 1 602 c.504C>T c.(502-504)ttC>ttT p.F168F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F168F(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTTCCTTTCTGTGGGCCCA 0.493000 68 406 0 0 0.003610 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 6 42 0 0 0.006214 0 0 EIF4H 7458 broad.mit.edu 37 7 73588773 73588773 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:73588773G>A ENST00000265753.8 + 1 198 c.e1+1 EIF4H_ENST00000353999.6_Splice_Site NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GCGGCAGAGGGTGAGGCGGGC 0.746000 9 55 0 0 0.000978 0 0 KIAA1109 84162 broad.mit.edu 37 4 123270446 123270446 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:123270446G>T ENST00000264501.4 + 78 13787 c.13414G>T c.(13414-13416)Gat>Tat p.D4472Y KIAA1109_ENST00000388738.3_Missense_Mutation_p.D4472Y Q2LD37 K1109_HUMAN KIAA1109 4472 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGGGACCATAGATGTCAATGC 0.368000 19 27 2.4624e-09 3.36045e-09 0.008871 1 0 MAP4K3 8491 broad.mit.edu 37 2 39477777 39477777 + Silent SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39477777A>G ENST00000263881.3 - 34 2991 c.2667T>C c.(2665-2667)ggT>ggC p.G889G MAP4K3_ENST00000437545.1_Silent_p.G805G|MAP4K3_ENST00000341681.5_Silent_p.G868G|MAP4K3_ENST00000536018.1_Silent_p.G442G NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 889 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TGTTTTCATGACCCGCCAGGA 0.378000 7 35 0 0 0.003080 0 0 CCDC73 493860 broad.mit.edu 37 11 32636042 32636042 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:32636042G>T ENST00000335185.5 - 16 1865 c.1822C>A c.(1822-1824)Cca>Aca p.P608T NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 608 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) CGAGTCCCTGGAAGCAATCTG 0.333000 7 36 8.12818e-05 0.000107757 0.001984 1 0 GPR110 266977 broad.mit.edu 37 6 46996735 46996735 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46996735G>A ENST00000371253.2 - 2 278 c.63C>T c.(61-63)ttC>ttT p.F21F GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Silent_p.F21F NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 21 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TCACCCCCAGGAAGCCACCGT 0.517000 9 51 0 0 0.000978 0 0 PABPN1 8106 broad.mit.edu 37 14 23792231 23792231 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:23792231G>A ENST00000397276.2 + 3 503 c.490G>A c.(490-492)Gag>Aag p.E164K BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.E191K|PABPN1_ENST00000556821.1_Missense_Mutation_p.E36K|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.E191K|PABPN1_ENST00000216727.4_Missense_Mutation_p.E164K|PABPN1_ENST00000557702.1_Missense_Mutation_p.E36K poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) CATGTCCATTGAGGAGAAGAT 0.453000 62 132 0 0 0.003610 0 0 SUSD1 64420 broad.mit.edu 37 9 114904620 114904620 + Missense_Mutation SNP G G A rs113511367 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:114904620G>A ENST00000374270.3 - 5 858 c.686C>T c.(685-687)tCc>tTc p.S229F SUSD1_ENST00000374263.3_Missense_Mutation_p.S229F|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Missense_Mutation_p.S229F NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 229 Sushi 1. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TAATTTTGGGGACTCCCATGT 0.418000 61 111 0 0 0.003610 0 0 PAX3 5077 broad.mit.edu 37 2 223065952 223065952 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:223065952G>C ENST00000392069.2 - 10 1824 c.1459C>G c.(1459-1461)Caa>Gaa p.Q487E PAX3_ENST00000350526.4_3'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.F404L|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000392070.2_3'UTR NM_001127366.2|NM_181458.3|NM_181459.3 NP_001120838.1|NP_852123.1|NP_852124.1 P23760 PAX3_HUMAN paired box 3 0 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAAGGATTTGAAACCAACTA 0.408000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 10 43 0 0 0.000978 0 0 PAPSS2 9060 broad.mit.edu 37 10 89501082 89501082 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:89501082C>T ENST00000361175.4 + 9 1531 c.1162C>T c.(1162-1164)Ctg>Ttg p.L388L PAPSS2_ENST00000427144.2_Silent_p.L392L|PAPSS2_ENST00000456849.1_Silent_p.L393L NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 388 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CCAATACCGTCTGACACCTCT 0.408000 9 76 0 0 0.006214 0 0 COPB2 9276 broad.mit.edu 37 3 139092111 139092111 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:139092111C>T ENST00000333188.5 - 9 1219 c.1038G>A c.(1036-1038)aaG>aaA p.K346K COPB2_ENST00000507777.1_Silent_p.K317K NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 346 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TGCCCATATCCTTTACTGCCA 0.438000 7 104 0 0 0.004482 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966042 88966042 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:88966042C>G ENST00000333190.4 + 4 4355 c.3746C>G c.(3745-3747)tCg>tGg p.S1249W NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1249 intracellular zinc ion binding p.S1249W(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTTCATTTTCGACTCTGACT 0.458000 HNSCC(36;0.09) 14 169 0 0 0.001855 0 0 CUL9 23113 broad.mit.edu 37 6 43172787 43172787 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:43172787C>T ENST00000252050.4 + 23 4650 c.4566C>T c.(4564-4566)ttC>ttT p.F1522F CUL9_ENST00000354495.3_Silent_p.F1412F|CUL9_ENST00000372647.2_Silent_p.F1522F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1522 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGGCAGCCTTCATGCTGGCTC 0.602000 26 59 0 0 0.004656 0 0 ZNF41 7592 broad.mit.edu 37 X 47307191 47307191 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:47307191C>T ENST00000377065.4 - 5 2617 c.1978G>A c.(1978-1980)Gag>Aag p.E660K ZNF41_ENST00000397050.2_Missense_Mutation_p.E670K|ZNF41_ENST00000313116.7_Missense_Mutation_p.E660K NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 702 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TTGGGCTTCTCACCTGTGTGG 0.438000 33 42 0 0 0.002836 0 0 ITGA2 3673 broad.mit.edu 37 5 52371064 52371064 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:52371064G>A ENST00000296585.5 + 23 2898 c.2755G>A c.(2755-2757)Gaa>Aaa p.E919K NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 919 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AAGCCAAGAAGAAAACAAGGC 0.348000 15 45 0 0 0.003163 0 0 MAML3 55534 broad.mit.edu 37 4 140641044 140641044 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:140641044C>G ENST00000509479.2 - 5 3706 c.2850G>C c.(2848-2850)caG>caC p.Q950H MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 946 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) CCATAAGGCTCTGCAGCCTTG 0.567000 42 96 0 0 0.002522 0 0 SMURF1 57154 broad.mit.edu 37 7 98649052 98649052 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:98649052G>C ENST00000361125.1 - 8 1053 c.734C>G c.(733-735)aCa>aGa p.T245R SMURF1_ENST00000361368.2_Missense_Mutation_p.T245R NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 245 WW 1. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GCCCTGGACTGTTGTTCTTTG 0.473000 48 96 0 0 0.003610 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 13 21 0 0 0.002450 0 0 TTYH1 57348 broad.mit.edu 37 19 54933464 54933464 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:54933464G>C ENST00000301194.4 + 4 640 c.518G>C c.(517-519)cGa>cCa p.R173P TTYH1_ENST00000376530.3_Missense_Mutation_p.R173P|TTYH1_ENST00000376531.3_Missense_Mutation_p.R173P|TTYH1_ENST00000391739.3_Missense_Mutation_p.R222P Q9H313 TTYH1_HUMAN tweety family member 1 173 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GCTGCCGCCCGAGGGGCTCGA 0.711000 4 9 0 0 0.000248 0 0 MLC1 23209 broad.mit.edu 37 22 50523236 50523236 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:50523236C>T ENST00000311597.5 - 2 702 c.96G>A c.(94-96)gcG>gcA p.A32A MLC1_ENST00000450140.2_Silent_p.A32A|MLC1_ENST00000535444.1_Intron|MLC1_ENST00000431262.2_Silent_p.A32A|MLC1_ENST00000395876.2_Silent_p.A32A|MLC1_ENST00000538737.1_Silent_p.A32A NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 32 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CGCTCGGCTTCGCGTCTGGGG 0.637000 22 54 0 0 0.001882 0 0 SMARCA4 6597 broad.mit.edu 37 19 11121153 11121153 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11121153G>A ENST00000358026.2 + 15 2504 c.2220G>A c.(2218-2220)gaG>gaA p.E740E SMARCA4_ENST00000589677.1_Silent_p.E740E|SMARCA4_ENST00000450717.3_Silent_p.E740E|SMARCA4_ENST00000429416.3_Silent_p.E740E|SMARCA4_ENST00000344626.4_Silent_p.E740E|SMARCA4_ENST00000444061.3_Silent_p.E740E|SMARCA4_ENST00000590574.1_Silent_p.E740E|SMARCA4_ENST00000541122.2_Silent_p.E740E|SMARCA4_ENST00000413806.3_Silent_p.E740E NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 740 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTGTCACTGAGAGAGTGGACA 0.587000 """F, N, Mis""" NSCLC 32 76 0 0 0.002445 0 0 CDC45 8318 broad.mit.edu 37 22 19495340 19495340 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:19495340G>C ENST00000407835.1 + 13 1264 c.1008G>C c.(1006-1008)ttG>ttC p.L336F CDC45_ENST00000437685.2_Missense_Mutation_p.L368F|CDC45_ENST00000404724.3_Missense_Mutation_p.L290F|CDC45_ENST00000263201.1_Missense_Mutation_p.L336F O75419 CDC45_HUMAN cell division cycle 45 336 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 ACATCTCCTTGAAGGAGAATT 0.443000 50 95 0 0 0.003610 0 0 WDR6 11180 broad.mit.edu 37 3 49049462 49049462 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:49049462G>A ENST00000395474.3 + 2 865 c.585G>A c.(583-585)ctG>ctA p.L195L WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Silent_p.L165L|WDR6_ENST00000448293.1_Silent_p.L114L|WDR6_ENST00000489684.1_3'UTR NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 165 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CAGCCTGCCTGATTGGAGACG 0.567000 6 50 0 0 0.001168 0 0 MYH9 4627 broad.mit.edu 37 22 36745254 36745254 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:36745254G>C ENST00000216181.5 - 2 258 c.28C>G c.(28-30)Ctc>Gtc p.L10V MYH9_ENST00000401701.1_Missense_Mutation_p.L10V NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 10 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCCACATAGAGATACTTATCG 0.517000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 13 42 0 0 0.001855 0 0 ZNF33A 7581 broad.mit.edu 37 10 38306269 38306269 + Missense_Mutation SNP G G A rs582502 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:38306269G>A ENST00000374618.3 + 4 383 c.205G>A c.(205-207)Gag>Aag p.E69K ZNF33A_ENST00000458705.2_Missense_Mutation_p.E69K|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69K|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76K|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69K NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 69 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 ACAAGGAGAAGAGCCATGGAA 0.433000 54 143 0 0 0.003610 0 0 ABLIM1 3983 broad.mit.edu 37 10 116307536 116307536 + Splice_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:116307536C>G ENST00000369252.4 - 5 795 c.e5-1 ABLIM1_ENST00000277895.5_Splice_Site|ABLIM1_ENST00000533213.2_Splice_Site NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CCGGCACAATCTGAAAAAGAG 0.522000 8 32 0 0 0.004482 0 0 CD4 920 broad.mit.edu 37 12 6924060 6924060 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:6924060C>T ENST00000011653.4 + 5 767 c.509C>T c.(508-510)tCc>tTc p.S170F CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.S115F NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 170 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAGACCCTCTCCGTGTCTCAG 0.552000 22 49 0 0 0.001882 0 0 MUC15 143662 broad.mit.edu 37 11 26584757 26584757 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:26584757G>C ENST00000436318.2 - 3 964 c.831C>G c.(829-831)gtC>gtG p.V277V ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000529533.1_Silent_p.V277V|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Silent_p.V250V|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 250 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TAAGCAATGAGACACCCAGAA 0.348000 26 63 0 0 0.002096 0 0 KIF21A 55605 broad.mit.edu 37 12 39703448 39703448 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:39703448G>C ENST00000395670.3 - 32 4639 c.4220C>G c.(4219-4221)tCa>tGa p.S1407* KIF21A_ENST00000361418.5_Nonsense_Mutation_p.S1406*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1353*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1393*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1369* Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1406 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ATAAGATGTTGATACAGTGAA 0.393000 12 49 0 0 0.001855 0 0 MIOS 54468 broad.mit.edu 37 7 7622975 7622975 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:7622975C>G ENST00000340080.4 + 6 2041 c.1620C>G c.(1618-1620)atC>atG p.I540M MIOS_ENST00000461907.2_3'UTR|MIOS_ENST00000405785.1_Missense_Mutation_p.I540M NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 540 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAATCCAAATCCTGAATGAAG 0.388000 12 52 0 0 0.001855 0 0 ZNF687 57592 broad.mit.edu 37 1 151261860 151261860 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151261860C>T ENST00000368879.2 + 5 2576 c.2478C>T c.(2476-2478)atC>atT p.I826I NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCAGGCTGATCTACAAGTGCG 0.622000 41 94 0 0 0.002852 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719275 52719275 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:52719275C>T ENST00000322088.6 + 8 999 c.941C>T c.(940-942)tCa>tTa p.S314L PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S259L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S135L NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 314 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GAAAACCTCTCAGCTGACTGT 0.547000 Mis clear cell ovarian carcinoma 43 51 0 0 0.002222 0 0 IKZF2 22807 broad.mit.edu 37 2 213872434 213872434 + Missense_Mutation SNP C C G rs76325907 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:213872434C>G ENST00000457361.1 - 8 1399 c.1231G>C c.(1231-1233)Gaa>Caa p.E411Q IKZF2_ENST00000342002.2_Missense_Mutation_p.E417Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.E411Q|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Missense_Mutation_p.E337Q|IKZF2_ENST00000374319.4_Missense_Mutation_p.E385Q|IKZF2_ENST00000374327.4_Missense_Mutation_p.E266Q|IKZF2_ENST00000451136.2_Missense_Mutation_p.E339Q NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGGCTGCTTTCTGAGTCAGTG 0.507000 86 171 0 0 0.003610 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131848 40131848 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:40131848C>G ENST00000235628.1 - 2 195 c.196G>C c.(196-198)Gag>Cag p.E66Q NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 66 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGCTGCTCCTCGTCCATGCGA 0.582000 13 60 0 0 0.001855 0 0 VAMP5 10791 broad.mit.edu 37 2 85820206 85820206 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:85820206C>T ENST00000306384.4 + 3 360 c.277C>T c.(277-279)Ctc>Ttc p.L93F NM_006634.2 NP_006625.1 O95183 VAMP5_HUMAN vesicle-associated membrane protein 5 93 cell differentiation|vesicle-mediated transport endomembrane system NS(1)|large_intestine(3)|lung(1) 5 GGTCGTCTTTCTCCCTCAGAG 0.592000 15 65 0 0 0.003163 0 0 SLC45A3 85414 broad.mit.edu 37 1 205628644 205628644 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:205628644G>C ENST00000367145.3 - 5 1675 c.1380C>G c.(1378-1380)ctC>ctG p.L460L SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 460 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGGCCCCGCAGAGCGCGGGTG 0.677000 T """ETV1, ETV5, ELK4, ERG""" prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 0 0 0.003080 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073061 34073061 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:34073061G>A ENST00000254466.6 - 6 1482 c.1455C>T c.(1453-1455)ttC>ttT p.F485F GAS2L2_ENST00000587565.1_Silent_p.F469F NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 485 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGCTCCCTGAACTGGAAGA 0.642000 49 87 0 0 0.003610 0 0 LPAL2 80350 broad.mit.edu 37 6 160905157 160905157 + RNA SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:160905157C>G ENST00000335388.5 - 0 970 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CGACTGCAGTCCCTTCTGTGT 0.532000 32 76 0 0 0.003271 0 0 SEPT2 4735 broad.mit.edu 37 2 242285646 242285646 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:242285646G>C ENST00000391973.2 + 10 1436 c.908G>C c.(907-909)aGa>aCa p.R303T SEPT2_ENST00000391971.2_Missense_Mutation_p.R303T|SEPT2_ENST00000402092.2_Missense_Mutation_p.R303T|SEPT2_ENST00000401990.1_Missense_Mutation_p.R313T|SEPT2_ENST00000360051.3_Missense_Mutation_p.R303T|SEPT2_ENST00000407971.1_Missense_Mutation_p.R263T NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 303 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) CGTTCTGAGAGACTCAAGAGA 0.517000 11 24 0 0 0.008291 0 0 PLCZ1 89869 broad.mit.edu 37 12 18876389 18876389 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:18876389C>T ENST00000266505.7 - 4 486 c.223G>A c.(223-225)Gag>Aag p.E75K RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E73K|PLCZ1_ENST00000539875.1_Intron Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 75 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTGAAAATCTCAATAATTTCT 0.338000 16 65 0 0 0.004007 0 0 DDB2 1643 broad.mit.edu 37 11 47254409 47254409 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47254409C>T ENST00000256996.4 + 4 696 c.501C>T c.(499-501)ctC>ctT p.L167L DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.L103L|DDB2_ENST00000378601.3_Silent_p.L167L NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 167 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TTAACCCTCTCAATACCAACC 0.498000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 112 0 0 0.000978 0 0 OSER1 51526 broad.mit.edu 37 20 42825868 42825868 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:42825868C>G ENST00000372970.2 - 6 883 c.703G>C c.(703-705)Gag>Cag p.E235Q OSER1_ENST00000255174.2_Missense_Mutation_p.E235Q oxidative stress responsive serine-rich 1 GAGTAGTCCTCAAGTGTGGAT 0.522000 10 60 0 0 0.006214 0 0 MAFA 389692 broad.mit.edu 37 8 144511689 144511689 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:144511689C>T ENST00000333480.2 - 1 887 c.888G>A c.(886-888)ctG>ctA p.L296L MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 296 Leucine-zipper. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CCTCCAGCTTCAGCTGCTCCA 0.687000 HNSCC(29;0.082) 10 29 0 0 0.008291 0 0 SLC38A10 124565 broad.mit.edu 37 17 79263557 79263557 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:79263557G>A ENST00000374759.3 - 2 534 c.151C>T c.(151-153)Cac>Tac p.H51Y SLC38A10_ENST00000288439.5_Missense_Mutation_p.H51Y NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 51 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACGACTGGTGCGTCATCCAT 0.632000 15 35 0 0 0.004007 0 0 METTL7A 25840 broad.mit.edu 37 12 51323817 51323817 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51323817G>T ENST00000548553.1 + 3 1600 c.619G>T c.(619-621)Gag>Tag p.E207* METTL7A_ENST00000332160.4_Nonsense_Mutation_p.E207* Q9H8H3 MET7A_HUMAN methyltransferase like 7A 207 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 CCTGACCAGAGAGAGCTGGAA 0.572000 38 127 3.33393e-15 4.65547e-15 0.004878 1 0 CHKA 1119 broad.mit.edu 37 11 67888317 67888317 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:67888317C>T ENST00000265689.4 - 1 354 c.328G>A c.(328-330)Gag>Aag p.E110K CHKA_ENST00000356135.5_Missense_Mutation_p.E110K NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 110 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) ATGTGGAACTCGTCCTCGCGG 0.766000 13 47 0 0 0.004007 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750497 140750497 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140750497C>G ENST00000576222.1 + 1 667 c.536C>G c.(535-537)tCt>tGt p.S179C PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCACTTCTCTTTGATTCAG 0.542000 92 170 0 0 0.003610 0 0 PDCD1 5133 broad.mit.edu 37 2 242794494 242794494 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:242794494C>T ENST00000334409.5 - 3 517 c.448G>A c.(448-450)Gaa>Aaa p.E150K NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 150 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GTGGGCACTTCTGCCCTTCTC 0.677000 15 25 0 0 0.004990 0 0 ARAP3 64411 broad.mit.edu 37 5 141041670 141041670 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:141041670G>A ENST00000239440.4 - 20 3018 c.2953C>T c.(2953-2955)Cgt>Tgt p.R985C ARAP3_ENST00000513878.1_Missense_Mutation_p.R647C|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 985 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCGAGCTCACGAAAGAAGCGT 0.592000 22 103 0 0 0.003954 0 0 TLR7 51284 broad.mit.edu 37 X 12903875 12903875 + Missense_Mutation SNP C C A rs143823510 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:12903875C>A ENST00000380659.3 + 3 387 c.248C>A c.(247-249)gCg>gAg p.A83E NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 83 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) ATCTCCCCAGCGTCCTTTCAC 0.483000 51 38 1.46156e-29 2.07661e-29 0.003610 1 0 ADRA2C 152 broad.mit.edu 37 4 3769370 3769370 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:3769370C>G ENST00000330055.5 + 1 1246 c.1037C>G c.(1036-1038)tCg>tGg p.S346W ADRA2C_ENST00000509482.1_Intron NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 346 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGCCGCCTGTCGCGCGCCAGC 0.821000 5 2 0 0 0.001168 0 0 MAGI1 9223 broad.mit.edu 37 3 65342307 65342307 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:65342307C>T ENST00000402939.2 - 23 4134 c.4135G>A c.(4135-4137)Gag>Aag p.E1379K MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1408 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CTCCTCTGCTCCAGGAGTCTC 0.726000 22 58 0 0 0.002299 0 0 C11orf30 56946 broad.mit.edu 37 11 76257029 76257029 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:76257029G>C ENST00000529032.1 + 19 3462 c.3462G>C c.(3460-3462)ttG>ttC p.L1154F C11orf30_ENST00000524490.1_Missense_Mutation_p.L1056F|C11orf30_ENST00000525919.1_Missense_Mutation_p.L1155F|C11orf30_ENST00000524767.1_Missense_Mutation_p.L1169F|C11orf30_ENST00000334736.3_Missense_Mutation_p.L1154F|C11orf30_ENST00000525038.1_Missense_Mutation_p.L1155F|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.L1063F Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1154 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AAATGTCTTTGATGGAAGCTC 0.448000 26 59 0 0 0.003330 0 0 MGAT2 4247 broad.mit.edu 37 14 50088560 50088560 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:50088560G>A ENST00000305386.2 + 1 1072 c.574G>A c.(574-576)Gac>Aac p.D192N RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 192 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) TCCAGGTAGTGACCCTAGAGA 0.507000 45 121 0 0 0.002222 0 0 AUTS2 26053 broad.mit.edu 37 7 70228261 70228261 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:70228261C>G ENST00000342771.4 + 7 1469 c.1148C>G c.(1147-1149)tCt>tGt p.S383C AUTS2_ENST00000406775.2_Missense_Mutation_p.S383C NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 383 Ser-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCCCACCCCTCTGCTCAGAGC 0.607000 10 106 0 0 0.001368 0 0 KCNT2 343450 broad.mit.edu 37 1 196251455 196251455 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:196251455G>C ENST00000367433.5 - 23 2758 c.2657C>G c.(2656-2658)aCg>aGg p.T886R KCNT2_ENST00000367431.4_Missense_Mutation_p.T836R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.T910R|KCNT2_ENST00000609185.1_Missense_Mutation_p.T836R|KCNT2_ENST00000451324.2_3'UTR NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 910 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.T910R(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAGAAGTCTCGTGATAGAAAT 0.308000 6 52 0 0 0.003080 0 0 BIN2 51411 broad.mit.edu 37 12 51686023 51686023 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51686023C>G ENST00000267012.4 - 10 928 c.867G>C c.(865-867)gaG>gaC p.E289D BIN2_ENST00000452142.2_Missense_Mutation_p.E257D|BIN2_ENST00000604560.1_Missense_Mutation_p.E262D|BIN2_ENST00000544402.1_Missense_Mutation_p.E263D NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 289 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CAGATTCACTCTCACTCTTCA 0.488000 37 83 0 0 0.004289 0 0 TRMT10B 158234 broad.mit.edu 37 9 37776350 37776350 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:37776350C>T ENST00000297994.3 + 8 857 c.792C>T c.(790-792)gtC>gtT p.V264V TRMT10B_ENST00000377753.2_Silent_p.V186V|TRMT10B_ENST00000377754.2_Silent_p.V169V|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Silent_p.V213V NM_144964.2 NP_659401.2 tRNA methyltransferase 10 homolog B (S. cerevisiae) AATACATGGTCAGAAACCAGA 0.438000 11 12 0 0 0.008291 0 0 TDRD6 221400 broad.mit.edu 37 6 46660747 46660747 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46660747C>G ENST00000544460.1 + 1 5136 c.4882C>G c.(4882-4884)Ccc>Gcc p.P1628A TDRD6_ENST00000316081.6_Missense_Mutation_p.P1628A NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1628 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TCTGTCGGTTCCCATGCAAGC 0.413000 22 67 0 0 0.001882 0 0 THSD7A 221981 broad.mit.edu 37 7 11468661 11468661 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:11468661C>G ENST00000423059.4 - 14 3407 c.3156G>C c.(3154-3156)ggG>ggC p.G1052G AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCACACCACTCCCACAGGACT 0.517000 HNSCC(18;0.044) 95 283 0 0 0.003610 0 0 MRPS22 56945 broad.mit.edu 37 3 139063001 139063001 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:139063001G>C ENST00000495075.1 + 3 565 c.133G>C c.(133-135)Gag>Cag p.E45Q MRPS22_ENST00000465056.1_Missense_Mutation_p.E45Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E45Q P82650 RT22_HUMAN mitochondrial ribosomal protein S22 45 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 TTGCTCTTTCGAGATGGGGCT 0.627000 6 23 0 0 0.001168 0 0 PCDHB13 56123 broad.mit.edu 37 5 140596055 140596055 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140596055C>G ENST00000341948.4 + 1 2547 c.2360C>G c.(2359-2361)tCt>tGt p.S787C NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGGAAATTCTACCTTCCCC 0.428000 14 76 0 0 0.003163 0 0 ACPT 93650 broad.mit.edu 37 19 51293713 51293713 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:51293713C>G ENST00000270593.1 + 1 42 c.42C>G c.(40-42)ctC>ctG p.L14L ACPT_ENST00000270594.3_Silent_p.L14L NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 14 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTGGACCTCTCctgctgctgc 0.711000 4 17 0 0 0.000602 0 0 C11orf63 79864 broad.mit.edu 37 11 122805334 122805334 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:122805334C>T ENST00000227349.2 + 5 1482 c.1185C>T c.(1183-1185)ccC>ccT p.P395P C11orf63_ENST00000531316.1_Silent_p.P395P NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 395 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ATAACCCTCCCAGGCAGCAAC 0.463000 8 32 0 0 0.003080 0 0 MTTP 4547 broad.mit.edu 37 4 100503108 100503108 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:100503108C>G ENST00000457717.1 + 3 364 c.108C>G c.(106-108)ctC>ctG p.L36L MTTP_ENST00000265517.5_Silent_p.L36L|MTTP_ENST00000422897.2_Silent_p.L36L|MTTP_ENST00000511045.1_Silent_p.L63L NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 36 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.L36L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGTACAAGCTCACGTACTCCA 0.458000 17 79 0 0 0.004990 0 0 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:184870595G>C ENST00000335012.2 - 1 207 c.17C>G c.(16-18)tCg>tGg p.S6W NM_001025266.1 NP_001020437.1 A6NLC5 CC070_HUMAN chromosome 3 open reading frame 70 6 p.S6L(2) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 CGACGCCGGCGAGGCCGCCGC 0.716000 3 14 0 0 0.000248 0 0 HN1L 90861 broad.mit.edu 37 16 1741917 1741917 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:1741917G>A ENST00000248098.3 + 3 324 c.267G>A c.(265-267)ggG>ggA p.G89G HN1L_ENST00000382710.4_Silent_p.G77G|HN1L_ENST00000561516.1_Intron|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382711.5_Silent_p.G73G|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000562684.1_Silent_p.G117G NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 89 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 CACCTGGAGGGAAGACCAGCG 0.542000 16 74 0 0 0.007413 0 0 IQCG 84223 broad.mit.edu 37 3 197652962 197652962 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:197652962C>T ENST00000265239.6 - 7 1083 c.659G>A c.(658-660)aGa>aAa p.R220K IQCG_ENST00000455191.1_Missense_Mutation_p.R220K|IQCG_ENST00000453254.1_Missense_Mutation_p.R220K NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 220 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TATCTGTTTTCTTCCTTTTTC 0.373000 24 43 0 0 0.002299 0 0 CRY2 1408 broad.mit.edu 37 11 45891150 45891150 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:45891150G>C ENST00000443527.2 + 7 1061 c.1039G>C c.(1039-1041)Gac>Cac p.D347H CRY2_ENST00000417225.2_Missense_Mutation_p.D265H NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 326 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|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 CCCCAGGTTTGACCGCATGGA 0.592000 42 100 0 0 0.007835 0 0 BCL3 602 broad.mit.edu 37 19 45262794 45262794 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:45262794C>T ENST00000164227.5 + 9 1531 c.1287C>T c.(1285-1287)ccC>ccT p.P429P NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 429 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding p.P421P(2) kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CATCTCCACCCGCCTTCCTGC 0.682000 T IGH@ CLL 19 345 0 0 0.001523 0 0 LCN2 3934 broad.mit.edu 37 9 130914210 130914210 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:130914210C>T ENST00000540948.1 + 4 454 c.381C>T c.(379-381)ctC>ctT p.L127L LCN2_ENST00000373017.1_Silent_p.L127L|LCN2_ENST00000372998.1_Silent_p.L129L|LCN2_ENST00000373013.2_Silent_p.L129L|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Silent_p.L127L P80188 NGAL_HUMAN lipocalin 2 127 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 CGAGTTACCTCGTCCGAGTGG 0.567000 27 57 0 0 0.005443 0 0 GNPNAT1 64841 broad.mit.edu 37 14 53248520 53248520 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:53248520G>A ENST00000216410.3 - 4 514 c.327C>T c.(325-327)ttC>ttT p.F109F GNPNAT1_ENST00000554230.1_Silent_p.F38F NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 109 N-acetyltransferase.|Substrate binding. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) AGGAATGGATGAATTTATGTT 0.358000 30 106 0 0 0.007291 0 0 RABL3 285282 broad.mit.edu 37 3 120461334 120461334 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:120461334C>T ENST00000273375.3 - 1 50 c.21G>A c.(19-21)gtG>gtA p.V7V RABL3_ENST00000483733.1_Silent_p.V7V|RABL3_ENST00000491398.1_5'UTR NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 7 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) CCAGTACCTTCACCCGATCCA 0.567000 9 76 0 0 0.004482 0 0 CD109 135228 broad.mit.edu 37 6 74502507 74502507 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:74502507C>T ENST00000437994.2 + 23 3291 c.2860C>T c.(2860-2862)Ctt>Ttt p.L954F CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Missense_Mutation_p.L877F|CD109_ENST00000287097.5_Missense_Mutation_p.L954F NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 954 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGAAAAAGCTCTTTCATTTAT 0.303000 10 35 0 0 0.006214 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128347847 128347847 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:128347847C>T ENST00000265960.3 - 5 990 c.658G>A c.(658-660)Gag>Aag p.E220K MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E220K|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E220K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E28K|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.E28K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E28K|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E220K|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E220K NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 220 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 AGCTTCGGCTCCCGTCCTTCG 0.542000 29 58 0 0 0.001786 0 0 SMARCA4 6597 broad.mit.edu 37 19 11121155 11121155 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11121155G>A ENST00000358026.2 + 15 2506 c.2222G>A c.(2221-2223)aGa>aAa p.R741K SMARCA4_ENST00000589677.1_Missense_Mutation_p.R741K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R741K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R741K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R741K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R741K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 741 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GTCACTGAGAGAGTGGACAAG 0.582000 """F, N, Mis""" NSCLC 33 77 0 0 0.002836 0 0 TIMD4 91937 broad.mit.edu 37 5 156353320 156353320 + Translation_Start_Site SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:156353320G>C ENST00000406964.1 - 0 189 TIMD4_ENST00000274532.2_Missense_Mutation_p.S283C|TIMD4_ENST00000407087.3_Missense_Mutation_p.S255C Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCTGTATCAGATGCTGGGAA 0.358000 9 31 0 0 0.008291 0 0 CLIC4 25932 broad.mit.edu 37 1 25167380 25167380 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:25167380G>A ENST00000374379.4 + 6 911 c.714G>A c.(712-714)aaG>aaA p.K238K NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 238 GST C-terminal. cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) CCAGTGATAAGGAGGTTGAAA 0.398000 34 78 0 0 0.004878 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 174135 174135 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:174135G>C ENST00000283426.6 + 16 3306 c.3256G>C c.(3256-3258)Gca>Cca p.A1086P NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1086 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CATTCTCCAAGCAAGCTCGGC 0.582000 9 11 0 0 0.004482 0 0 PTPN3 5774 broad.mit.edu 37 9 112144707 112144707 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:112144707C>T ENST00000412145.1 - 19 4563 c.2010G>A c.(2008-2010)gtG>gtA p.V670V PTPN3_ENST00000394827.3_Silent_p.V269V|PTPN3_ENST00000262539.3_Silent_p.V647V|PTPN3_ENST00000446349.1_Silent_p.V625V|PTPN3_ENST00000374541.2_Silent_p.V801V NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 801 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GGAGATGTGTCACTGTGTGTT 0.572000 14 34 0 0 0.002450 0 0 NGRN 51335 broad.mit.edu 37 15 90808999 90808999 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:90808999C>T ENST00000379095.3 + 1 63 c.55C>T c.(55-57)Cgc>Tgc p.R19C NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron NM_001033088.1 NP_001028260.2 Q9NPE2 NGRN_HUMAN neugrin, neurite outgrowth associated 19 neuron differentiation extracellular region|nucleus kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CGCCGTCACTCGCTGTGGGTT 0.692000 12 36 0 0 0.002450 0 0 ERBB3 2065 broad.mit.edu 37 12 56481671 56481671 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56481671T>C ENST00000267101.3 + 6 1146 c.706T>C c.(706-708)Tca>Cca p.S236P ERBB3_ENST00000415288.2_Missense_Mutation_p.S177P|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 236 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CGGGGGCTGCTCAGGCCCTCA 0.547000 49 140 0 0 0.003610 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219877 44219877 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:44219877C>G ENST00000371554.1 + 10 1818 c.1604C>G c.(1603-1605)tCa>tGa p.S535* HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.S535*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.S535* P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 535 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGCCTGGTCTCAGTTACCAAG 0.517000 7 38 0 0 0.001984 0 0 ACBD7 414149 broad.mit.edu 37 10 15121001 15121001 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:15121001C>T ENST00000356189.5 - 2 98 c.51G>A c.(49-51)ctG>ctA p.L17L ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 17 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 GTCTTGCTTTCAGCTTCCTCA 0.358000 33 93 0 0 0.007835 0 0 C20orf26 26074 broad.mit.edu 37 20 20177312 20177312 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:20177312C>G ENST00000245957.5 + 16 1765 c.1689C>G c.(1687-1689)ctC>ctG p.L563L C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 563 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACTTTGCCCTCAACCCCATTT 0.463000 34 97 0 0 0.002836 0 0 FUT11 170384 broad.mit.edu 37 10 75532615 75532615 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:75532615C>G ENST00000372841.3 + 1 567 c.524C>G c.(523-525)tCg>tGg p.S175W FUT11_ENST00000394790.1_Missense_Mutation_p.S175W|FUT11_ENST00000465695.1_3'UTR NM_173540.2 NP_775811.2 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 175 protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 Prostate(51;0.0112) AGTCGCCACTCGGATTACCCG 0.687000 16 36 0 0 0.006122 0 0 SLC14A2 8170 broad.mit.edu 37 18 43221187 43221187 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:43221187C>A ENST00000255226.6 + 8 1821 c.1005C>A c.(1003-1005)gcC>gcA p.A335A SLC14A2_ENST00000586448.1_Silent_p.A335A NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 335 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGTCAGTGGCCACACCCTTCG 0.577000 14 136 6.81908e-15 9.5139e-15 0.002450 1 0 CLTC 1213 broad.mit.edu 37 17 57754433 57754433 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:57754433C>G ENST00000269122.3 + 17 2954 c.2680C>G c.(2680-2682)Ctt>Gtt p.L894V CLTC_ENST00000393043.1_Missense_Mutation_p.L894V|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 894 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GGAGAGATTTCTTCGTGAAAA 0.458000 T """ALK, TFE3""" """ALCL, renal """ 43 58 0 0 0.002222 0 0 GZMA 3001 broad.mit.edu 37 5 54398580 54398580 + Splice_Site SNP G G C rs142297007 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54398580G>C ENST00000274306.6 + 1 105 c.70G>C c.(70-72)Gat>Cat p.D24H NM_006144.3 NP_006135 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 24 cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AATTCCTGAAGGTAAGACTGA 0.408000 21 81 0 0 0.001523 0 0 C1QL1 10882 broad.mit.edu 37 17 43037561 43037561 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:43037561C>A ENST00000253407.3 - 2 794 c.772G>T c.(772-774)Gac>Tac p.D258Y NM_006688.3 NP_006679.1 O75973 C1QRF_HUMAN complement component 1, q subcomponent-like 1 258 C1q. locomotory behavior collagen lung(1)|prostate(1) 2 Prostate(33;0.155) GGAGCTCAGTCGGAGTAGATG 0.657000 44 122 9.39024e-22 1.32722e-21 0.002222 1 0 ZNF433 163059 broad.mit.edu 37 19 12126042 12126042 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12126042G>T ENST00000419886.2 - 5 1826 c.1535C>A c.(1534-1536)tCa>tAa p.S512* ZNF433_ENST00000344980.6_Nonsense_Mutation_p.S547*|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 TTGAAGCTGTGAGGCAGATCT 0.453000 30 112 2.4375e-19 3.43619e-19 0.007291 1 0 OR1G1 8390 broad.mit.edu 37 17 3030061 3030061 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:3030061G>C ENST00000328890.2 - 1 814 c.785C>G c.(784-786)tCt>tGt p.S262C NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 GGTTGAGGGAGAACTGAAATC 0.483000 19 35 0 0 0.007413 0 0 DCAF4 26094 broad.mit.edu 37 14 73404761 73404761 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:73404761C>G ENST00000555042.1 + 2 140 c.75C>G c.(73-75)ctC>ctG p.L25L DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000353777.3_Silent_p.L25L|DCAF4_ENST00000358377.2_Silent_p.L25L|DCAF4_ENST00000509153.1_Silent_p.L25L|DCAF4_ENST00000553457.1_5'UTR NM_001163508.1 NP_001156980.1 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 25 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GGTTCAGACTCCGTGATTCTG 0.488000 35 102 0 0 0.004878 0 0 PHF1 5252 broad.mit.edu 37 6 33383647 33383647 + Missense_Mutation SNP G G C rs138734488 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33383647G>C ENST00000374512.3 + 14 1641 c.1370G>C c.(1369-1371)cGa>cCa p.R457P PHF1_ENST00000374516.3_Silent_p.S492S NM_002636.4 NP_002627.1 O43189 PHF1_HUMAN PHD finger protein 1 0 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCCCCCACTCGATGACTGCCT 0.542000 32 105 0 0 0.003755 0 0 C8orf58 541565 broad.mit.edu 37 8 22459311 22459311 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:22459311G>C ENST00000409586.3 + 3 723 c.603G>C c.(601-603)caG>caC p.Q201H C8orf58_ENST00000289989.5_Missense_Mutation_p.Q201H NM_001013842.2|NM_001198827.1|NM_173686.2 NP_001013864.1|NP_001185756.1|NP_775957.2 Q8NAV2 CH058_HUMAN chromosome 8 open reading frame 58 201 endometrium(1)|lung(1)|ovary(1)|skin(1) 4 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TGCTGGAGCAGATGGCAAGGC 0.662000 41 98 0 0 0.002222 0 0 RNF213 57674 broad.mit.edu 37 17 78359383 78359383 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:78359383C>G ENST00000582970.1 + 61 14644 c.14501C>G c.(14500-14502)tCc>tGc p.S4834C CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2907C|RNF213_ENST00000508628.2_Missense_Mutation_p.S4883C|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 1200 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTCTTTCTGTCCACATGGAAC 0.498000 10 44 0 0 0.001368 0 0 FAM161B 145483 broad.mit.edu 37 14 74411204 74411204 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:74411204G>C ENST00000286544.3 - 3 1146 c.948C>G c.(946-948)ctC>ctG p.L316L FAM161B_ENST00000534936.1_Silent_p.L253L NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TCAAAGAAGAGAGGAGCAGTT 0.567000 26 74 0 0 0.004656 0 0 RASA1 5921 broad.mit.edu 37 5 86564633 86564633 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:86564633C>T ENST00000274376.6 + 1 929 c.365C>T c.(364-366)tCg>tTg p.S122L NM_002890.2 NP_002881.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 122 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding p.S122*(1) NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTGCCCACTTCGTTGCTTGCT 0.657000 6 27 0 0 0.004482 0 0 GCK 2645 broad.mit.edu 37 7 44193018 44193018 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44193018C>A ENST00000403799.3 - 2 559 c.90G>T c.(88-90)ctG>ctT p.L30L GCK_ENST00000345378.2_Silent_p.L31L|GCK_ENST00000437084.1_Silent_p.L30L|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000395796.3_Silent_p.L29L NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 30 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TCACCTTCTTCAGGTCCTCCT 0.632000 83 225 9.47799e-51 1.35495e-50 0.003610 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43992600 43992600 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:43992600C>T ENST00000282406.4 + 30 4455 c.4345C>T c.(4345-4347)Cag>Tag p.Q1449* NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1449 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAACTTCCATCAGCAAAAGGC 0.468000 27 53 0 0 0.001786 0 0 UBQLN2 29978 broad.mit.edu 37 X 56590553 56590553 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:56590553G>C ENST00000338222.5 + 1 528 c.247G>C c.(247-249)Gat>Cat p.D83H NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 83 Ubiquitin-like. cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 AATCTTAAAAGATCAAGATAC 0.483000 11 25 0 0 0.008291 0 0 PYGM 5837 broad.mit.edu 37 11 64520647 64520647 + Missense_Mutation SNP G G C rs142207594 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64520647G>C ENST00000164139.3 - 12 1814 c.1416C>G c.(1414-1416)ttC>ttG p.F472L PYGM_ENST00000377432.3_Missense_Mutation_p.F384L NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 472 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CCAGCTCATAGAAGTCTTTGA 0.577000 62 146 0 0 0.003610 0 0 FGL2 10875 broad.mit.edu 37 7 76828608 76828608 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:76828608T>G ENST00000248598.5 - 1 535 c.503A>C c.(502-504)aAc>aCc p.N168T CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 168 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 ATTTTCTATGTTGTTCATATT 0.388000 28 88 0 0 0.005443 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884581 64884581 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64884581C>T ENST00000310597.4 - 1 589 c.545G>A c.(544-546)gGa>gAa p.G182E NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 182 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CGGGACATCTCCAAGAACCCG 0.726000 5 14 0 0 0.001984 0 0 FAM78B 149297 broad.mit.edu 37 1 166039523 166039523 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:166039523C>T ENST00000338353.3 - 3 1330 c.741G>A c.(739-741)tgG>tgA p.W247* FAM78B_ENST00000354422.3_Nonsense_Mutation_p.W247* Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 247 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) GCTTGGGCCTCCACATGAGGA 0.592000 24 106 0 0 0.003330 0 0 CDCA2 157313 broad.mit.edu 37 8 25343351 25343351 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:25343351C>T ENST00000330560.3 + 11 1919 c.1442C>T c.(1441-1443)tCa>tTa p.S481L CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S466L NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 481 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GAGACCCTTTCAGGTAGTAAC 0.279000 11 30 0 0 0.008291 0 0 STUB1 10273 broad.mit.edu 37 16 731803 731803 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:731803G>C ENST00000565677.1 + 4 926 c.319G>C c.(319-321)Gag>Cag p.E107Q JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.E179Q|JMJD8_ENST00000293882.4_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E107Q|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000566181.2_3'UTR Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 179 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) GGAGCTGGAAGAGTGCCAGCG 0.627000 21 55 0 0 0.001882 0 0 GPR128 84873 broad.mit.edu 37 3 100413798 100413798 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:100413798G>A ENST00000273352.3 + 16 2615 c.2347G>A c.(2347-2349)Gag>Aag p.E783K GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.E488K NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 783 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TCCGAGTACTGAGGAAATCAC 0.433000 18 69 0 0 0.004990 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670262 32670262 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:32670262G>C ENST00000421922.2 + 5 689 c.589G>C c.(589-591)Gag>Cag p.E197Q CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GTGTGTTCCTGAGAGGTCAGT 0.493000 39 174 0 0 0.005524 0 0 SLC50A1 55974 broad.mit.edu 37 1 155109406 155109406 + Silent SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:155109406T>C ENST00000368404.4 + 3 323 c.261T>C c.(259-261)taT>taC p.Y87Y SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000303343.8_Silent_p.Y87Y|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000368401.5_Intron NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 87 MtN3/slv 1. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 TCTTGGCATATCTGCATTACT 0.562000 5 78 0 0 0.000602 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156912573 156912573 + Splice_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:156912573C>G ENST00000368194.3 - 33 4275 c.e33-1 ARHGEF11_ENST00000487682.1_Splice_Site|ARHGEF11_ENST00000361409.2_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCCGTTTATCTGTGTGAGGA 0.542000 38 54 0 0 0.006999 0 0 SLC17A8 246213 broad.mit.edu 37 12 100797851 100797851 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:100797851G>A ENST00000323346.5 + 9 1402 c.1089G>A c.(1087-1089)atG>atA p.M363I SLC17A8_ENST00000392989.3_Missense_Mutation_p.M313I NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 363 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 ACATGGTTATGACAATCGTTG 0.428000 20 65 0 0 0.001523 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612919 16612919 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:16612919G>C ENST00000443444.2 + 5 1688 c.1548G>C c.(1546-1548)ttG>ttC p.L516F RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L516F|CCDC144A_ENST00000340621.5_Missense_Mutation_p.L515F|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L516F|CCDC144A_ENST00000360524.8_Missense_Mutation_p.L516F A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 516 TCCTGGCTTTGAAGAAAGAAG 0.353000 61 104 0 0 0.003610 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150028006 150028006 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:150028006G>A ENST00000343855.4 + 1 1069 c.513G>A c.(511-513)gaG>gaA p.E171E LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GCTTGCTGGAGAGCATGGGGC 0.632000 5 27 0 0 0.000602 0 0 WIPF1 7456 broad.mit.edu 37 2 175436406 175436406 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:175436406G>C ENST00000392547.2 - 5 1226 c.1127C>G c.(1126-1128)tCa>tGa p.S376* WIPF1_ENST00000392546.2_Nonsense_Mutation_p.S376*|WIPF1_ENST00000272746.5_Nonsense_Mutation_p.S376*|WIPF1_ENST00000409415.3_Nonsense_Mutation_p.S376*|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Nonsense_Mutation_p.S376*|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Nonsense_Mutation_p.S376* NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 376 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TGTCATACCTGATCGGCCTGG 0.562000 22 135 0 0 0.003954 0 0 FOXP2 93986 broad.mit.edu 37 7 114282626 114282626 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:114282626C>T ENST00000393500.3 + 13 1532 c.712C>T c.(712-714)Cat>Tat p.H238Y FOXP2_ENST00000408937.3_Missense_Mutation_p.H338Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.H313Y|FOXP2_ENST00000378237.3_Missense_Mutation_p.H313Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.H221Y|FOXP2_ENST00000393494.2_Missense_Mutation_p.H313Y|FOXP2_ENST00000360232.4_Missense_Mutation_p.H313Y|FOXP2_ENST00000393489.3_Missense_Mutation_p.H221Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.H292Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.H330Y|FOXP2_ENST00000390668.3_Missense_Mutation_p.H337Y O15409 FOXP2_HUMAN forkhead box P2 313 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 ACCAATAACTCATCATTCCAT 0.393000 20 61 0 0 0.002299 0 0 GPR37 2861 broad.mit.edu 37 7 124386968 124386968 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:124386968G>T ENST00000303921.2 - 2 2103 c.1453C>A c.(1453-1455)Caa>Aaa p.Q485K NM_005302.3 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 485 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCTCTAGTTGAATCTGCCGT 0.433000 26 102 2.48779e-11 3.44725e-11 0.005443 1 0 TOP2A 7153 broad.mit.edu 37 17 38551779 38551779 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:38551779C>T ENST00000423485.1 - 29 3891 c.3733G>A c.(3733-3735)Gaa>Aaa p.E1245K NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1245 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GGGCTTCCTTCAGTATTTTCA 0.343000 7 45 0 0 0.004482 0 0 RWDD1 51389 broad.mit.edu 37 6 116914217 116914217 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:116914217G>A ENST00000466444.2 + 7 901 c.685G>A c.(685-687)Gat>Aat p.D229N RWDD1_ENST00000487832.2_Missense_Mutation_p.D133N|RWDD1_ENST00000392526.1_Missense_Mutation_p.D133N NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 229 protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) TGATGAAGATGATCCAGACTA 0.468000 12 50 0 0 0.000978 0 0 EDC4 23644 broad.mit.edu 37 16 67918030 67918030 + Silent SNP C C T rs142793660 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:67918030C>T ENST00000358933.5 + 29 4424 c.4185C>T c.(4183-4185)ctC>ctT p.L1395L CTC-479C5.10_ENST00000572067.1_lincRNA NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 1395 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TGCATGGCCTCGTGACCCCCA 0.627000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 20 0 0 0.000978 0 0 HECTD3 79654 broad.mit.edu 37 1 45472910 45472910 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:45472910C>T ENST00000372172.4 - 11 1608 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K HECTD3_ENST00000372168.3_Missense_Mutation_p.E123K NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 513 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) AGGGGCTTTTCATATTTGTCA 0.498000 20 101 0 0 0.002780 0 0 CHD8 57680 broad.mit.edu 37 14 21899134 21899134 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:21899134C>T ENST00000399982.2 - 1 733 c.669G>A c.(667-669)gtG>gtA p.V223V CHD8_ENST00000557364.1_Silent_p.V223V|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 223 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGGCGGCCAACACTGTATTAC 0.557000 9 27 0 0 0.008291 0 0 ENTPD3 956 broad.mit.edu 37 3 40457535 40457535 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:40457535G>C ENST00000301825.3 + 7 920 c.802G>C c.(802-804)Gag>Cag p.E268Q ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E268Q|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E268Q NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 268 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GAATGAGGCTGAGAAGAAGTT 0.552000 18 36 0 0 0.004990 0 0 SPTBN4 57731 broad.mit.edu 37 19 41029487 41029487 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:41029487G>C ENST00000352632.3 + 17 3884 c.3798G>C c.(3796-3798)ctG>ctC p.L1266L SPTBN4_ENST00000344104.3_Silent_p.L1266L|SPTBN4_ENST00000595535.1_Silent_p.L1266L|SPTBN4_ENST00000338932.3_Silent_p.L1266L|SPTBN4_ENST00000598249.1_Silent_p.L1266L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1266 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGGCCTGCTGAGGCAGGGCA 0.632000 23 74 0 0 0.003330 0 0 SHROOM3 57619 broad.mit.edu 37 4 77357273 77357273 + Missense_Mutation SNP G G A rs142735873 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:77357273G>A ENST00000296043.6 + 1 1021 c.68G>A c.(67-69)gGa>gAa p.G23E NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 23 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GCCACCAAGGGAAGGTACATT 0.473000 54 143 0 0 0.003610 0 0 ENG 2022 broad.mit.edu 37 9 130580997 130580997 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:130580997G>A ENST00000344849.3 - 11 1706 c.1426C>T c.(1426-1428)Cag>Tag p.Q476* ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Nonsense_Mutation_p.Q476* P17813 EGLN_HUMAN endoglin 476 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 CCAGGTACCTGCACAAAGCTC 0.612000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 52 79 0 0 0.003610 0 0 DOCK10 55619 broad.mit.edu 37 2 225642870 225642870 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:225642870G>C ENST00000409592.3 - 51 5882 c.5769C>G c.(5767-5769)atC>atG p.I1923M DOCK10_ENST00000258390.7_Missense_Mutation_p.I1929M Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1929 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGGAATCCTGGATTATCTTCA 0.353000 8 30 0 0 0.004482 0 0 C17orf67 339210 broad.mit.edu 37 17 54893199 54893199 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:54893199G>A ENST00000575658.1 - 5 1251 c.45C>T c.(43-45)ctC>ctT p.L15L C17orf67_ENST00000397862.2_Silent_p.L15L|C17orf67_ENST00000397861.2_5'UTR NM_001085430.2 NP_001078899.2 Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 15 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) GCCTCTTGCTGAGTGAATCCT 0.517000 10 81 0 0 0.006214 0 0 PRX 57716 broad.mit.edu 37 19 40902007 40902007 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:40902007G>C ENST00000324001.7 - 7 2522 c.2252C>G c.(2251-2253)tCa>tGa p.S751* PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 751 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCGAATCTCTGACACTTTCGG 0.592000 60 236 0 0 0.003610 0 0 GPR22 2845 broad.mit.edu 37 7 107115258 107115258 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:107115258G>A ENST00000304402.4 + 3 2096 c.753G>A c.(751-753)aaG>aaA p.K251K COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 251 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 CAGGGCAGAAGAAGAAAGCAA 0.363000 8 23 0 0 0.004482 0 0 CECR5 27440 broad.mit.edu 37 22 17624010 17624010 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:17624010C>T ENST00000336737.4 - 5 574 c.549G>A c.(547-549)agG>agA p.R183R CECR5_ENST00000399852.3_Silent_p.R46R|CECR5_ENST00000155674.5_Silent_p.R153R NM_033070.2 NP_149061.1 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 183 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) GGAAGTCATTCCTCGGGAGGG 0.567000 16 52 0 0 0.004007 0 0 DMBT1 1755 broad.mit.edu 37 10 124380654 124380654 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:124380654C>T ENST00000338354.3 + 41 5085 c.4979C>T c.(4978-4980)tCc>tTc p.S1660F DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1650F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1660F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1650F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1032F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1032F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1660 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TATCGAGGCTCCTGGGGAACC 0.587000 101 231 0 0 0.003610 0 0 RDH13 112724 broad.mit.edu 37 19 55570559 55570559 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:55570559G>A ENST00000415061.3 - 2 293 c.150C>T c.(148-150)atC>atT p.I50I RDH13_ENST00000396247.3_5'UTR NM_001145971.1 NP_001139443.1 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 (all-trans/9-cis) 50 binding|oxidoreductase activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) TCTGCTTCCCGATGCCTGTGT 0.572000 10 8 0 0 0.006214 0 0 TRPV6 55503 broad.mit.edu 37 7 142571845 142571845 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:142571845G>A ENST00000359396.3 - 12 1748 c.1503C>T c.(1501-1503)atC>atT p.I501I NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 501 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CAAAGCCCAGGATGACCACAG 0.537000 6 24 0 0 0.004482 0 0 BBS1 582 broad.mit.edu 37 11 66278173 66278173 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:66278173G>A ENST00000318312.7 + 1 94 c.43G>A c.(43-45)Gag>Aag p.E15K BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.E15K|BBS1_ENST00000393994.2_Missense_Mutation_p.E15K|BBS1_ENST00000537537.1_5'UTR|CTD-3074O7.11_ENST00000419755.3_Intron NM_024649.4 NP_078925.3 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 15 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 CTGCGGAGCTGAGAGGTGAAG 0.662000 Bardet-Biedl syndrome 9 32 0 0 0.008291 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760750 15760750 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:15760750C>G ENST00000221307.8 + 7 722 c.675C>G c.(673-675)atC>atG p.I225M CYP4F3_ENST00000586182.2_Missense_Mutation_p.I225M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.I225M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.I225M NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTGCCGCCATCTTGGAGCTCA 0.522000 63 221 0 0 0.003610 0 0 PHLDB2 90102 broad.mit.edu 37 3 111667878 111667878 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:111667878G>A ENST00000431670.2 + 10 2998 c.2587G>A c.(2587-2589)Gag>Aag p.E863K PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E847K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E820K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E863K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E820K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 863 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGTTGCCACTGAGCCTGCCAC 0.478000 16 39 0 0 0.004007 0 0 TRBV27 28560 broad.mit.edu 37 7 142423640 142423640 + RNA SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:142423640C>T ENST00000390399.3 + 0 339 ATCCTGGAGTCGCCCAGCCCC 0.498000 16 57 0 0 0.004007 0 0 KLF11 8462 broad.mit.edu 37 2 10187909 10187909 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:10187909C>G ENST00000535335.1 + 3 610 c.394C>G c.(394-396)Ctg>Gtg p.L132V KLF11_ENST00000540845.1_Missense_Mutation_p.L132V|KLF11_ENST00000305883.1_Missense_Mutation_p.L149V NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 149 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GGCCAGAGCTCTGAGCGGGGG 0.612000 23 51 0 0 0.002780 0 0 CNGB1 1258 broad.mit.edu 37 16 57957231 57957231 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:57957231G>C ENST00000564448.1 - 18 1631 c.1571C>G c.(1570-1572)cCa>cGa p.P524R CNGB1_ENST00000251102.8_Missense_Mutation_p.P530R Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 530 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGACTCTGCTGGTGACAACGC 0.582000 6 83 0 0 0.001984 0 0 PIK3R5 23533 broad.mit.edu 37 17 8794166 8794166 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:8794166C>G ENST00000447110.1 - 7 670 c.546G>C c.(544-546)ctG>ctC p.L182L PIK3R5_ENST00000581552.1_Silent_p.L182L|PIK3R5_ENST00000584803.1_Silent_p.L182L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 182 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CGGGCGTACTCAGCTTATTGG 0.647000 9 29 0 0 0.004482 0 0 SVOP 55530 broad.mit.edu 37 12 109306319 109306319 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:109306319G>C ENST00000299134.5 - 14 1442 c.1443C>G c.(1441-1443)ctC>ctG p.L481L NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 CACTATTCCTGAGAGCCAGAG 0.632000 67 185 0 0 0.003610 0 0 DPY19L3 147991 broad.mit.edu 37 19 32973094 32973094 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:32973094G>C ENST00000342179.5 + 19 2314 c.2099G>C c.(2098-2100)aGa>aCa p.R700T DPY19L3_ENST00000586987.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R700T NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 700 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TACTTCACCAGAGTGTTCCAG 0.478000 114 199 0 0 0.003610 0 0 CLEC12A 160364 broad.mit.edu 37 12 10124258 10124258 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:10124258C>T ENST00000304361.4 + 1 245 c.63C>T c.(61-63)atC>atT p.I21I CLEC12A_ENST00000434319.2_Silent_p.I21I|CLEC12A_ENST00000350667.4_Silent_p.I21I|CLEC12A_ENST00000355690.4_Silent_p.I31I NM_138337.5|NM_201623.3 NP_612210.4|NP_963917.2 Q5QGZ9 CL12A_HUMAN C-type lectin domain family 12, member A 21 integral to membrane|plasma membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 16 TGGAAAAAATCCCAGAAATTG 0.318000 18 73 0 0 0.004990 0 0 RIPK4 54101 broad.mit.edu 37 21 43171292 43171292 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:43171292C>G ENST00000352483.2 - 3 652 c.588G>C c.(586-588)aaG>aaC p.K196N RIPK4_ENST00000542057.1_Missense_Mutation_p.K133N|RIPK4_ENST00000332512.3_Missense_Mutation_p.K196N|RIPK4_ENST00000544709.1_Missense_Mutation_p.K133N Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 196 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGAGCCGGCTCTTCTCCCTGA 0.602000 7 79 0 0 0.001984 0 0 VPS13D 55187 broad.mit.edu 37 1 12336868 12336868 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:12336868G>C ENST00000358136.3 + 19 3353 c.3223G>C c.(3223-3225)Gag>Cag p.E1075Q VPS13D_ENST00000356315.4_Missense_Mutation_p.E1075Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1075 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTTACCAAAGAGCAAGAGTC 0.438000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 80 0 0 0.002836 0 0 LRRC49 54839 broad.mit.edu 37 15 71256227 71256227 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:71256227C>T ENST00000260382.5 + 9 1137 c.877C>T c.(877-879)Cag>Tag p.Q293* LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000443425.2_Nonsense_Mutation_p.Q249*|LRRC49_ENST00000560369.1_Nonsense_Mutation_p.Q298*|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Nonsense_Mutation_p.Q283*|LRRC49_ENST00000560691.1_5'UTR NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 293 LRRCT. cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 CACTGTCCTTCAGAATATGAT 0.463000 59 140 0 0 0.003610 0 0 ADAR 103 broad.mit.edu 37 1 154574803 154574803 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:154574803C>G ENST00000368474.4 - 2 514 c.315G>C c.(313-315)caG>caC p.Q105H ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.Q148H NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 105 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GGAACCCTCTCTGGAGCCCCT 0.557000 34 61 0 0 0.002836 0 0 CCDC135 84229 broad.mit.edu 37 16 57732921 57732921 + Silent SNP C C T rs116591936 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:57732921C>T ENST00000360716.3 + 4 584 c.363C>T c.(361-363)aaC>aaT p.N121N CCDC135_ENST00000336825.8_Silent_p.N121N|CCDC135_ENST00000394337.4_Silent_p.N121N|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 121 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 ACCCCCTGAACGAGTGTGAAG 0.647000 29 219 0 0 0.001786 0 0 RBL2 5934 broad.mit.edu 37 16 53498194 53498194 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:53498194C>G ENST00000262133.6 + 12 1754 c.1617C>G c.(1615-1617)gtC>gtG p.V539V RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.V323V NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 539 Domain A.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCCTTGAGGTCGTCACTTTTT 0.323000 3 54 0 0 0.004672 0 0 BCL2L14 79370 broad.mit.edu 37 12 12247765 12247765 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:12247765C>G ENST00000586576.1 + 7 1093 c.945C>G c.(943-945)ctC>ctG p.L315L BCL2L14_ENST00000308721.5_Silent_p.L282L|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000589718.1_Silent_p.L282L|BCL2L14_ENST00000396367.1_Silent_p.L282L|BCL2L14_ENST00000266434.4_3'UTR Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 282 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) CGGCCAAGCTCACAGCTATTG 0.552000 31 91 0 0 0.007291 0 0 EML5 161436 broad.mit.edu 37 14 89124543 89124543 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:89124543C>T ENST00000554922.1 - 26 4113 c.3865G>A c.(3865-3867)Gaa>Aaa p.E1289K EML5_ENST00000352093.5_Missense_Mutation_p.E1251K|EML5_ENST00000380664.5_Missense_Mutation_p.E1289K NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1289 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCATCTTCTTCAGAATCAATG 0.363000 27 77 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179455083 179455083 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:179455083C>T ENST00000589042.1 - 304 61593 c.61369G>A c.(61369-61371)Gag>Aag p.E20457K TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11584K|TTN_ENST00000591111.1_Missense_Mutation_p.E18816K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11517K|TTN_ENST00000460472.2_Missense_Mutation_p.E11392K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17889K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18816 Fibronectin type-III 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCTTGGCTCACCCTCTCCT 0.408000 14 103 0 0 0.001855 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850581 58850581 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58850581G>C ENST00000329665.4 + 3 1512 c.1365G>C c.(1363-1365)caG>caC p.Q455H NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 455 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) TTGAGCACCAGAGGATCCACA 0.542000 14 116 0 0 0.001855 0 0 KIF21B 23046 broad.mit.edu 37 1 200967564 200967564 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:200967564C>G ENST00000332129.2 - 14 2341 c.2025G>C c.(2023-2025)caG>caC p.Q675H KIF21B_ENST00000422435.2_Missense_Mutation_p.Q675H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q675H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q675H NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 675 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGATCTTGTTCTGCAGCAGAA 0.582000 28 130 0 0 0.001786 0 0 MRC2 9902 broad.mit.edu 37 17 60767311 60767311 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60767311G>A ENST00000303375.5 + 25 4032 c.3630G>A c.(3628-3630)caG>caA p.Q1210Q MRC2_ENST00000446119.2_Silent_p.Q76Q NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1210 C-type lectin 7. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 TGGGCTGGCAGGACGGGGAGC 0.677000 5 38 0 0 0.000602 0 0 EDEM1 9695 broad.mit.edu 37 3 5246762 5246762 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:5246762G>C ENST00000256497.4 + 6 1186 c.1053G>C c.(1051-1053)gtG>gtC p.V351V EDEM1_ENST00000445686.1_Silent_p.V156V NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 351 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GCAATGTCGTGAACATTCAGA 0.517000 60 76 0 0 0.003610 0 0 MED12 9968 broad.mit.edu 37 X 70339888 70339888 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:70339888G>C ENST00000333646.6 + 4 620 c.421G>C c.(421-423)Gag>Cag p.E141Q MED12_ENST00000374102.1_Missense_Mutation_p.E141Q|MED12_ENST00000374080.3_Missense_Mutation_p.E141Q NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 141 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TAAGAAGGAAGAGGTGTTTGG 0.468000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 38 34 0 0 0.004289 0 0 UBR4 23352 broad.mit.edu 37 1 19494588 19494588 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:19494588G>T ENST00000375267.2 - 28 3835 c.3832C>A c.(3832-3834)Ctg>Atg p.L1278M UBR4_ENST00000375254.3_Missense_Mutation_p.L1278M|UBR4_ENST00000375217.2_Missense_Mutation_p.L1278M|UBR4_ENST00000375226.2_Missense_Mutation_p.L1278M Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1278 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCCAGGGGCAGACTTTGGCTA 0.512000 36 78 6.05902e-23 8.59375e-23 0.003755 1 0 ADCY2 108 broad.mit.edu 37 5 7789838 7789838 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:7789838G>A ENST00000338316.4 + 20 2642 c.2553G>A c.(2551-2553)ctG>ctA p.L851L ADCY2_ENST00000537121.1_Silent_p.L671L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 851 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGGAGAACCTGAACCGCGTGC 0.527000 33 83 0 0 0.002096 0 0 MAP4K3 8491 broad.mit.edu 37 2 39505625 39505625 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39505625G>A ENST00000263881.3 - 24 2041 c.1717C>T c.(1717-1719)Cag>Tag p.Q573* MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.Q489*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.Q552*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.Q126* NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 573 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) ATCAAGTACTGATCTGAAATA 0.264000 6 37 0 0 0.001984 0 0 TTLL4 9654 broad.mit.edu 37 2 219603658 219603658 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219603658G>A ENST00000392102.1 + 3 1599 c.1259G>A c.(1258-1260)aGc>aAc p.S420N TTLL4_ENST00000457313.1_Missense_Mutation_p.S255N|TTLL4_ENST00000442769.1_Missense_Mutation_p.S420N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S420N NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 420 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AAGCGTATCAGCATTCACCTC 0.532000 29 95 0 0 0.007291 0 0 SATB2 23314 broad.mit.edu 37 2 200213701 200213701 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:200213701G>C ENST00000443023.1 - 6 2184 c.719C>G c.(718-720)tCt>tGt p.S240C SATB2_ENST00000260926.5_Missense_Mutation_p.S299C|SATB2_ENST00000417098.1_Missense_Mutation_p.S299C|SATB2_ENST00000428695.1_Missense_Mutation_p.S181C|SATB2_ENST00000457245.1_Missense_Mutation_p.S299C Q9UPW6 SATB2_HUMAN SATB homeobox 2 299 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAGCTGGGGAGAAAGAAGACC 0.507000 23 124 0 0 0.003330 0 0 ANKRD28 23243 broad.mit.edu 37 3 15762601 15762601 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:15762601G>C ENST00000399451.2 - 8 1094 c.727C>G c.(727-729)Ctt>Gtt p.L243V ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L276V NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 243 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCTACATGAAGAGGTGTATTT 0.328000 59 471 0 0 0.003610 0 0 IPO8 10526 broad.mit.edu 37 12 30833556 30833556 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:30833556C>T ENST00000256079.4 - 5 837 c.499G>A c.(499-501)Gag>Aag p.E167K NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 167 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGTTCTCTCTCTTCTGCTTTC 0.318000 19 136 0 0 0.007413 0 0 EIF2D 1939 broad.mit.edu 37 1 206772966 206772966 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:206772966C>T ENST00000271764.2 - 10 1261 c.1053G>A c.(1051-1053)agG>agA p.R351R EIF2D_ENST00000367114.3_Splice_Site_p.R227R NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 351 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AAGATGTAATCCTAAAACCCA 0.532000 13 76 0 0 0.002450 0 0 LY6G6D 58530 broad.mit.edu 37 6 31685395 31685395 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:31685395C>G ENST00000503322.1 + 6 966 c.963C>G c.(961-963)gtC>gtG p.V321V LY6G6F_ENST00000556581.1_Silent_p.V321V|LY6G6D_ENST00000375825.3_Silent_p.V72V CAGCCTGCGTCGCAGCCCATC 0.577000 74 195 0 0 0.003610 0 0 ANGPT4 51378 broad.mit.edu 37 20 854974 854974 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:854974G>C ENST00000381922.3 - 8 1406 c.1304C>G c.(1303-1305)tCa>tGa p.S435* ANGPT4_ENST00000546022.1_Intron NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 435 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GTCGTTGTCTGAGTCAAGGGT 0.612000 26 90 0 0 0.005443 0 0 PMFBP1 83449 broad.mit.edu 37 16 72156877 72156877 + Missense_Mutation SNP C C T rs145484256 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:72156877C>T ENST00000537465.1 - 19 2877 c.2719G>A c.(2719-2721)Gag>Aag p.E907K PMFBP1_ENST00000537792.1_Missense_Mutation_p.E68K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E902K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E757K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 907 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CCTAGTTTCTCATTGGCGACC 0.532000 25 80 0 0 0.004656 0 0 OR5T1 390155 broad.mit.edu 37 11 56043552 56043552 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:56043552G>A ENST00000313033.2 + 1 524 c.438G>A c.(436-438)gtG>gtA p.V146V NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TGTATTCAGTGAGCATGTCAC 0.438000 64 200 0 0 0.003610 0 0 RASIP1 54922 broad.mit.edu 37 19 49238679 49238679 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49238679G>A ENST00000222145.4 - 4 1157 c.953C>T c.(952-954)tCa>tTa p.S318L RASIP1_ENST00000594232.1_5'UTR NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 318 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CAAGTTTTCTGAGCGCTCCTT 0.701000 8 24 0 0 0.004482 0 0 CPNE1 8904 broad.mit.edu 37 20 34214245 34214245 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:34214245G>A ENST00000317619.3 - 18 1926 c.1532C>T c.(1531-1533)tCa>tTa p.S511L CPNE1_ENST00000397443.1_Missense_Mutation_p.S511L|CPNE1_ENST00000397442.1_Missense_Mutation_p.S455L|CPNE1_ENST00000397446.1_Missense_Mutation_p.S511L|CPNE1_ENST00000317677.5_Missense_Mutation_p.S516L|CPNE1_ENST00000352393.4_Missense_Mutation_p.S511L|CPNE1_ENST00000397445.1_Missense_Mutation_p.S511L Q99829 CPNE1_HUMAN copine I 511 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGAAGTATGAGACCAGTTG 0.622000 43 141 0 0 0.002852 0 0 KRT10 3858 broad.mit.edu 37 17 38978738 38978738 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:38978738G>A ENST00000269576.5 - 1 109 c.100C>T c.(100-102)Cta>Tta p.L34L TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412 P13645 K1C10_HUMAN keratin 10 34 Gly-rich.|Head. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GAAATTCTTAGGGATGACAct 0.562000 18 48 0 0 0.004990 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102493971 102493971 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:102493971G>C ENST00000360184.4 + 47 9228 c.9064G>C c.(9064-9066)Gaa>Caa p.E3022Q NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3022 AAA 4 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TGGTCTCTTTGAAGGAGACGA 0.542000 17 44 0 0 0.004007 0 0 LRRK1 79705 broad.mit.edu 37 15 101601442 101601442 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:101601442G>A ENST00000284395.5 + 31 5137 c.4737G>A c.(4735-4737)atG>atA p.M1579I RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.M1582I Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1582 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCCTGGGATGAAGGTGAGCT 0.612000 13 41 0 0 0.002450 0 0 ALOX5 240 broad.mit.edu 37 10 45877975 45877975 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:45877975C>T ENST00000374391.2 + 2 248 c.195C>T c.(193-195)atC>atT p.I65I ALOX5_ENST00000542434.1_Silent_p.I65I NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 65 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGGGCGAGATCCAGCTGGTCA 0.557000 17 53 0 0 0.007413 0 0 TARSL2 123283 broad.mit.edu 37 15 102255153 102255153 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:102255153C>G ENST00000335968.3 - 4 796 c.580G>C c.(580-582)Gaa>Caa p.E194Q NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 194 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACCGTGCTTTCAGCCAGTTCC 0.403000 11 62 0 0 0.001368 0 0 NADK 65220 broad.mit.edu 37 1 1688587 1688588 + Frame_Shift_Ins INS - - C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:1688587_1688588insC ENST00000344463.4 - 6 958_959 c.737_738insG c.(736-738)ggtfs p.G246fs NADK_ENST00000341426.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CTCCATGTGCACCCCAGGCCCC 0.634 4 7 --- --- --- --- OBSL1 23363 broad.mit.edu 37 2 220435169 220435170 + Frame_Shift_Ins INS - - TGCT TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:220435169_220435170insTGCT ENST00000404537.1 - 1 841_842 c.785_786insAGCA c.(784-786)cacfs p.H262fs OBSL1_ENST00000603926.1_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000265318.4_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000373873.4_Frame_Shift_Ins_p.H262fs|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000289656.3_Intron NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 262 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GGAACTTGGCGTGCTTGCCCTC 0.723 19 86 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187510105 187510115 + Frame_Shift_Del DEL CAGGCATGTCT CAGGCATGTCT - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187510105_187510115delCAGGCATGTCT ENST00000441802.2 - 27 13607_13617 c.13398_13408delAGACATGCCTG c.(13396-13410)agagacatgcctgccfs p.RDMPA4466fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4466 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTACCCGCGGCAGGCATGTCTCTAGGAGGGT 0.502 HNSCC(5;0.00058) 16 295 --- --- --- --- SLC12A2 6558 broad.mit.edu 37 5 127514329 127514330 + Frame_Shift_Ins INS - - A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:127514329_127514330insA ENST00000262461.2 + 22 3237_3238 c.3048_3049insA c.(3049-3051)aaafs p.K1017fs SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Frame_Shift_Ins_p.K1001fs NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1017 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity p.Q1016Q(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACAGTTTCAGAAAAAACAAGG 0.312 8 77 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 7 2 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10823639 10823640 + Frame_Shift_Del DEL TG TG - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:10823639_10823640delTG ENST00000526148.1 - 13 1765_1766 c.1255_1256delCA c.(1255-1257)caafs p.Q419fs EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.Q419fs|EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.Q419fs|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.Q419fs NM_001172705.1 NP_001166176 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 419 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAACTGCGATTGTGTGGGAGGC 0.431 15 109 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46240637 46240638 + Splice_Site INS - - GCTT TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:46240637_46240638insGCTT ENST00000334344.6 + 12 1670 c.e12-1 ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTTTTCTTTAGCTTCCAGAGC 0.351 """N, S, F""" hepatocellular carcinoma 8 69 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312381 + RNA DEL TT TT - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:23312380_23312381delTT ENST00000560464.1 - 0 3118 TGTTAttttctttttttttttt 0.401 3 5 --- --- --- --- TUSC5 286753 broad.mit.edu 37 17 1183661 1183661 + Frame_Shift_Del DEL C C - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:1183661delC ENST00000333813.3 + 1 705 c.366delC c.(364-366)atcfs p.I122fs NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 122 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCAACCTCATCCCCCTCATCA 0.617 56 112 --- --- --- --- QRICH2 84074 broad.mit.edu 37 17 74283954 74283955 + Frame_Shift_Del DEL CC CC - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74283954_74283955delCC ENST00000262765.5 - 6 3503_3504 c.3324_3325delGG c.(3322-3327)ctggaafs p.E1109fs NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1109 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCTTCCCCTTCCAGGATCCTCT 0.559 34 96 --- --- --- --- SLC14A1 6563 broad.mit.edu 37 18 43310353 43310353 + Frame_Shift_Del DEL C C - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:43310353delC ENST00000321925.4 + 3 300 c.68delC c.(67-69)tcgfs p.S23fs RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Frame_Shift_Del_p.S79fs|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000589700.1_Frame_Shift_Del_p.S23fs|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Frame_Shift_Del_p.S79fs|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_Frame_Shift_Del_p.S23fs|SLC14A1_ENST00000535474.1_Intron NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 23 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 AACCAGGTTTCGCCATGTCAA 0.507 35 77 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44942739 44942739 + Frame_Shift_Del DEL C C - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:44942739delC ENST00000377967.4 + 23 3360 c.3319delC c.(3319-3321)cctfs p.P1107fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.P1114fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.P1028fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.P1062fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1107 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GACTAAACTTCCTGCTTTTGT 0.403 """D, N, F, S""" """renal, oesophageal SCC, MM""" 29 10 --- --- --- ---