Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut IFIH1 64135 broad.mit.edu 37 2 163174366 163174367 + Splice_Site DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:163174366_163174367CG>AT uc002uce.3 - 1 675 c.453_splice c.e1+1 p.R151_splice IFIH1_uc002ucf.3_Splice_Site_p.R151_splice NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 151 CARD 2. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding p.R151R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GACACCTACCCGGTTTCTGTCT 0.490000 394 13 0 0 6.4e-05 0 0 MYO10 4651 broad.mit.edu 37 5 16673992 16673993 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:16673992_16673993CC>AA uc003jft.4 - 35 5438_5439 c.4970_4971GG>TT c.(4969-4971)cgg>cTT p.R1657L MYO10_uc011cnb.2_Missense_Mutation_p.R286L|MYO10_uc011cnc.2_Missense_Mutation_p.R536L|MYO10_uc011cnd.2_Missense_Mutation_p.R1014L|MYO10_uc011cne.2_Missense_Mutation_p.R1014L|MYO10_uc010itx.3_Missense_Mutation_p.R1279L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 1657 MyTH4. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity p.R1657L(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GAAACTGTTCCCGTATCCTAGG 0.465000 92 6 0 0 6.4e-05 0 0 ADAM30 11085 broad.mit.edu 37 1 120437782 120437783 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120437782_120437783GG>TT uc001eij.3 - 0 1365_1366 c.1177_1178CC>AA c.(1177-1179)cca>AAa p.P393K NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 393 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) ACCTAGTCCTGGGATATTATTT 0.411000 918 24 0 0 6.4e-05 0 0 PDE8B 8622 broad.mit.edu 37 5 76709077 76709078 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:76709077_76709078CC>AA uc003kfa.3 + 16 1899_1900 c.1854_1855CC>AA c.(1852-1857)acccat>acAAat p.H619N PDE8B_uc003kfd.3_Missense_Mutation_p.H572N|PDE8B_uc003kfe.3_Missense_Mutation_p.H522N|PDE8B_uc003kfb.3_Missense_Mutation_p.H599N|PDE8B_uc003kfc.3_Missense_Mutation_p.H564N NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 619 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ACAACTCCACCCATGCTGCCGA 0.475000 473 13 0 0 6.4e-05 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27867408 27867409 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr7:27867408_27867409GG>TT uc003szl.3 + 15 2319_2320 c.2137_2138GG>TT c.(2137-2139)ggg>TTg p.G713L TAX1BP1_uc011jzo.2_Missense_Mutation_p.G671L|TAX1BP1_uc003szk.3_Missense_Mutation_p.G671L|TAX1BP1_uc011jzp.2_Missense_Mutation_p.G514L NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA. 713 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) ACATTTACGTGGGCATGGGACA 0.401000 584 13 0 0 6.4e-05 0 0 ADAM30 11085 broad.mit.edu 37 1 120438501 120438502 + Missense_Mutation DNP GG TT TT rs17852538 TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120438501_120438502GG>TT uc001eij.3 - 0 646_647 c.458_459CC>AA c.(457-459)ccc>cAA p.P153Q NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 153 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GTTCAAAACTGGGAGAGGCCTT 0.450000 921 19 0 0 6.4e-05 0 0 A4GNT 51146 broad.mit.edu 37 3 137843566 137843566 + Missense_Mutation SNP C A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:137843566C>A uc003ers.2 - 2 765 c.563G>T c.(562-564)cGg>cTg p.R188L NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA. 188 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 ACTAGAGTACCGAGAAGCCTG 0.493000 388 14 3.45872e-05 0.00261852 3.45872e-05 1 0 THADA 63892 broad.mit.edu 37 2 43802053 43802054 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:43802053_43802054CC>AA uc002rsw.4 - 10 1502_1503 c.1150_1151GG>TT c.(1150-1152)ggg>TTg p.G384L THADA_uc002rsx.4_Missense_Mutation_p.G384L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.G94L|THADA_uc002rta.2_Missense_Mutation_p.G94L|THADA_uc002rtb.1_Missense_Mutation_p.G384L|THADA_uc002rtc.4_Missense_Mutation_p.G384L|THADA_uc002rtd.3_Missense_Mutation_p.G384L NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 384 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACTTGAATTCCCATTCAGGCTG 0.421000 583 14 0 0 6.4e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 145360584 145360584 + Missense_Mutation SNP G A A rs78186669 TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:145360584G>A uc021oul.1 + 73 9244 c.9209G>A c.(9208-9210)gGg>gAg p.G3070E NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3070 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) GATGAGAAAGGGCCTGAAGTC 0.483000 20 4 0 0 8.12818e-05 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53706882 53706883 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr16:53706882_53706883CC>AA uc002ehp.3 - 7 992_993 c.928_929GG>TT c.(928-930)ggg>TTg p.G310L RPGRIP1L_uc002eho.4_Missense_Mutation_p.G310L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.G310L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.G310L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G310L|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.G310L NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 310 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TAATTCATCCCCATTTGCCATC 0.317000 516 13 0 0 6.4e-05 0 0 ADAM30 11085 broad.mit.edu 37 1 120437038 120437039 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120437038_120437039CG>AT uc001eij.3 - 0 2109_2110 c.1921_1922CG>AT c.(1921-1923)cgg>ATg p.R641M NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 641 EGF-like. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCAAACACCCCGGGTATTGCAT 0.490000 897 20 0 0 6.4e-05 0 0 CDSN 1041 broad.mit.edu 37 6 31084467 31084467 + Missense_Mutation SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:31084467G>A uc003nsm.2 - 1 981 c.925C>T c.(925-927)Cca>Tca p.P309S PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 309 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 GTCATGCCTGGAACCAGATAA 0.547000 4 13 0 0 0.000151284 0 0 X97876 0 broad.mit.edu 37 9 66499794 66499794 + Missense_Mutation SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr9:66499794C>T uc004aee.1 + 0 604 c.604C>T c.(604-606)Cgc>Tgc p.R202C X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). GTGCAAGTCGCGCAAGGAGCA 0.587000 43 8 0 0 0.00010058 0 0 PSG3 5671 broad.mit.edu 37 19 43243060 43243060 + Silent SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:43243060G>A uc002oue.3 - 1 378 c.246C>T c.(244-246)taC>taT p.Y82Y PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 82 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CATCTACTACGTATGATGTAA 0.443000 203 124 0 0 0.000147903 0 0 F2RL1 2150 broad.mit.edu 37 5 76128757 76128758 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:76128757_76128758CC>AA uc003keo.3 + 1 500_501 c.325_326CC>AA c.(325-327)cct>AAt p.P109N NM_005242 NP_005233 P55085 PAR2_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA. 109 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) GAAGAAGCACCCTGCTGTGATT 0.475000 577 14 0 0 6.4e-05 0 0 PIK3CB 5291 broad.mit.edu 37 3 138426102 138426103 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:138426102_138426103CC>AA uc011bmq.2 - 8 1428_1429 c.1428_1429GG>TT c.(1426-1431)atggga>atTTga p.476_477MG>I* PIK3CB_uc011bmn.2_Nonsense_Mutation_p.5_6MG>I*|PIK3CB_uc011bmo.2_Intron|PIK3CB_uc011bmp.2_Nonsense_Mutation_p.80_81MG>I* NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 476 G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TGAACAGTTCCCATTGGATTCA 0.302000 583 13 0 0 6.4e-05 0 0 AK098438 0 broad.mit.edu 37 1 21752830 21752830 + RNA SNP C T T rs139145324 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:21752830C>T uc001bep.1 - 2 c.146G>A Homo sapiens cDNA FLJ25572 fis, clone JTH05111. TGAAAGGAGTCGAATACCATC 0.473000 31 13 0 0 5.49717e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120510117 120510118 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120510117_120510118GG>TT uc001eik.3 - 7 1688_1689 c.1391_1392CC>AA c.(1390-1392)ccc>cAA p.P464Q NOTCH2_uc001eil.3_Missense_Mutation_p.P464Q|NOTCH2_uc021osy.1_Missense_Mutation_p.P425Q|NOTCH2_uc001eim.4_Missense_Mutation_p.P381Q NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 464 EGF-like 12; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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) CATTCTGGCAGGGGTCTGAATG 0.515000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 900 19 0 0 6.4e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120459047 120459048 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120459047_120459048CC>AA uc001eik.3 - 33 6594_6595 c.6297_6298GG>TT c.(6295-6300)atgggc>atTTgc p.2099_2100MG>IC NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 2099 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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) GACTTCTTGCCCATTGGGGTGT 0.554000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 912 17 0 0 6.4e-05 0 0 PIK3CB 5291 broad.mit.edu 37 3 138461467 138461468 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:138461467_138461468GG>TT uc011bmq.2 - 2 553_554 c.553_554CC>AA c.(553-555)cct>AAt p.P185N NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 185 PI3K-RBD. G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAAGTTTTCAGGGATGGATGGT 0.376000 528 15 0 0 6.4e-05 0 0 A4GNT 51146 broad.mit.edu 37 3 137849834 137849835 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:137849834_137849835CC>AA uc003ers.2 - 1 466_467 c.264_265GG>TT c.(262-267)aagggt>aaTTgt p.88_89KG>NC NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA. 88 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 TCAGTAAGACCCTTCATAAAGA 0.475000 463 14 0 0 6.4e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458896 120458897 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120458896_120458897GG>TT uc001eik.3 - 33 6745_6746 c.6448_6449CC>AA c.(6448-6450)cct>AAt p.P2150N NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 2150 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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) GGAATCAACAGGGGATAAAGTT 0.495000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 912 16 0 0 6.4e-05 0 0 CLCC1 23155 broad.mit.edu 37 1 109486591 109486592 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:109486591_109486592CC>AA uc021ora.1 - 3 438_439 c.427_428GG>TT c.(427-429)gga>TTa p.G143L AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.G143L|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Missense_Mutation_p.G143L NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA. 143 Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CCAGTCTTCTCCATTGAGAAAC 0.327000 628 15 0 0 6.4e-05 0 0 SENP2 59343 broad.mit.edu 37 3 185316811 185316812 + Splice_Site DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:185316811_185316812GG>TT uc003fpn.3 + 4 529 c.358_splice c.e4+1 p.G120_splice SENP2_uc011brv.2_Splice_Site_p.G110_splice|SENP2_uc011brw.2_Intron NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 120 Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TGCTGAAACTGGGTGAGGTGGT 0.381000 429 12 0 0 6.4e-05 0 0 TAOK2 9344 broad.mit.edu 37 16 29998438 29998438 + Missense_Mutation SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr16:29998438C>T uc010bzm.2 + 14 2901 c.2866C>T c.(2866-2868)Cat>Tat p.H956Y BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.H836Y|TAOK2_uc002dva.2_Missense_Mutation_p.H949Y|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.H776Y NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 949 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ACTCCTGTCCCATGGCCTCCT 0.667000 79 39 0 0 0.000147903 0 0 HAVCR1 26762 broad.mit.edu 37 5 156469690 156469691 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:156469690_156469691CC>AA uc010jij.1 - 5 969_970 c.784_785GG>TT c.(784-786)ggg>TTg p.G262L HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L|HAVCR1_uc021ygj.1_Missense_Mutation_p.G262L|HAVCR1_uc021ygk.1_Missense_Mutation_p.G93L NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 257 interspecies interaction between organisms integral to membrane receptor activity p.G262V(2) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGTCATTCCCATCTACTCAA 0.347000 488 11 0 0 6.4e-05 0 0 TCF7L2 6934 broad.mit.edu 37 10 114724329 114724330 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:114724329_114724330CG>AT uc021pyi.1 + 3 903_904 c.396_397CG>AT c.(394-399)tccggc>tcATgc p.G133C TCF7L2_uc001lah.3_Intron|TCF7L2_uc010qro.2_Intron|TCF7L2_uc001lae.4_Missense_Mutation_p.G133C|TCF7L2_uc010qrm.2_Missense_Mutation_p.G133C|TCF7L2_uc010qrn.2_Intron|TCF7L2_uc021pyg.1_Intron|TCF7L2_uc021pyh.1_Intron|TCF7L2_uc021pyj.1_Missense_Mutation_p.G133C|TCF7L2_uc021pyk.1_Intron|TCF7L2_uc021pyl.1_Intron|TCF7L2_uc010qrp.2_Intron|TCF7L2_uc021pym.1_Intron|TCF7L2_uc021pyn.1_Missense_Mutation_p.G133C|TCF7L2_uc021pyo.1_Missense_Mutation_p.G133C|TCF7L2_uc021pyp.1_Missense_Mutation_p.G133C|TCF7L2_uc010qrq.2_Intron|TCF7L2_uc001lac.4_Intron|TCF7L2_uc010qrk.2_Intron|TCF7L2_uc001lad.4_Intron|TCF7L2_uc001lag.4_Intron|TCF7L2_uc001laf.4_Intron|TCF7L2_uc010qrl.2_Intron|TCF7L2_uc010qrr.2_Intron|TCF7L2_uc010qrs.2_Intron|TCF7L2_uc010qrt.2_Intron NM_030756 NP_110383 Q9NQB0 TF7L2_HUMAN Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA. 133 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus PML body|beta-catenin-TCF7L2 complex|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) ATTTTCAGTCCGGCAGCACACA 0.391000 T VTI1A colorectal 441 11 0 0 6.4e-05 0 0 RGPD3 653489 broad.mit.edu 37 2 107073516 107073516 + Missense_Mutation SNP T C C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:107073516T>C uc010ywi.1 - 3 373 c.316A>G c.(316-318)Aaa>Gaa p.K106E NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 106 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ACATCATTTTTACAAAGCAAT 0.328000 104 61 0 0 0.000147903 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166551 96166552 + Nonsense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:96166551_96166552GG>TT uc022ayk.1 + 0 279_280 c.279_280GG>TT c.(277-282)gaggga>gaTTga p.93_94EG>D* PLEKHF2_uc003yhn.2_Nonsense_Mutation_p.93_94EG>D* NM_024613 NP_078889 Q9H8W4 PKHF2_HUMAN Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA. 93 PH. transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) TCAAAGATGAGGGAGACTTAAG 0.342000 851 19 0 0 6.4e-05 0 0 NBPF1 55672 broad.mit.edu 37 1 16913547 16913548 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:16913547_16913548GG>TT uc009vos.1 - 10 1663_1664 c.775_776CC>AA c.(775-777)cca>AAa p.P259K NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 259 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTTT 0.401000 554 17 0 0 6.4e-05 0 0 NBPF7 343505 broad.mit.edu 37 1 120387021 120387022 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120387021_120387022GG>TT uc010oxk.2 - 0 758_759 c.137_138CC>AA c.(136-138)ccc>cAA p.P46Q NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA. 46 cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2) 24 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CTGCCAGCTGGGGGCGCAATTT 0.475000 OREG0013730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 904 17 0 0 6.4e-05 0 0 LILRB4 11006 broad.mit.edu 37 19 55179198 55179198 + Missense_Mutation SNP A G G TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:55179198A>G uc002qgp.3 + 10 1516 c.1154A>G c.(1153-1155)gAc>gGc p.D385G LILRB4_uc002qgq.3_Missense_Mutation_p.D384G|LILRB4_uc010ert.3_Missense_Mutation_p.D426G|LILRB4_uc010eru.3_Missense_Mutation_p.D415G NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 385 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAATTCCTGGACACAAAGGAC 0.587000 22 4 0 0 1.23904e-05 0 0 PTPN1 5770 broad.mit.edu 37 20 49195776 49195776 + Missense_Mutation SNP G T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr20:49195776G>T uc002xvl.3 + 6 948 c.774G>T c.(772-774)atG>atT p.M258I PTPN1_uc010zys.2_Missense_Mutation_p.M185I NM_002827 NP_002818 P18031 PTN1_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA. 258 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) AGTTTCGGATGGGGCTGATCC 0.502000 195 57 3.89483e-19 3.00182e-17 0.000147903 1 0 ZNF35 7584 broad.mit.edu 37 3 44692709 44692709 + Silent SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:44692709G>A uc003cnq.3 + 1 371 c.150G>A c.(148-150)caG>caA p.Q50Q ZNF35_uc003cnr.3_5'UTR NM_003420 NP_003411 P13682 ZNF35_HUMAN Homo sapiens zinc finger protein 35 (ZNF35), mRNA. 50 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCCCAGTGCAGGGTCTTCAGA 0.502000 34 21 0 0 4.16121e-05 0 0 LOC728819 728819 broad.mit.edu 37 2 43903111 43903112 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:43903111_43903112CC>AA uc010fav.1 - 0 350_351 c.350_351GG>TT c.(349-351)tgg>tTT p.W117F PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron NM_001101330 NP_001094800 Homo sapiens hCG1645220 (LOC728819), mRNA. all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCATCTGTACCCACCTGTCATT 0.406000 724 21 0 0 6.4e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G A A rs7266938 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr20:29625877G>A uc010ztl.1 + 1 63 c.31G>A c.(31-33)Gcc>Acc p.A11T FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.A41T(2)|p.T10T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 74 7 0 0 0.000157383 0 0 C4BPA 722 broad.mit.edu 37 1 207287557 207287557 + Silent SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:207287557C>T uc001hfo.3 + 2 449 c.255C>T c.(253-255)taC>taT p.Y85Y NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 85 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCCCTGGCTACGTCAGATCCC 0.433000 46 16 0 0 5.01169e-05 0 0 PPM1B 5495 broad.mit.edu 37 2 44428714 44428715 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:44428714_44428715GG>TT uc002rtt.3 + 1 804_805 c.376_377GG>TT c.(376-378)ggg>TTg p.G126L PPM1B_uc002rts.3_Missense_Mutation_p.G126L|PPM1B_uc002rtu.3_Missense_Mutation_p.G126L|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.G126L|PPM1B_uc002rtx.3_Missense_Mutation_p.G126L NM_002706 NP_002697 O75688 PPM1B_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA. 126 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTCAGAAACGGGATGGACAGG 0.391000 586 19 0 0 6.4e-05 0 0 PASK 23178 broad.mit.edu 37 2 242066278 242066278 + Silent SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:242066278C>T uc002wao.2 - 9 2185 c.2052G>A c.(2050-2052)ccG>ccA p.P684P PASK_uc010zol.2_Silent_p.P498P|PASK_uc010zom.2_Silent_p.P649P|PASK_uc010fzl.2_Silent_p.P684P|PASK_uc010zon.2_Silent_p.P465P|PASK_uc021vzf.1_Silent_p.P684P|PASK_uc002wap.3_Silent_p.P227P|PASK_uc002waq.3_Silent_p.P684P NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 684 P -> R (in dbSNP:rs56372985). regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.P684S(1)|p.V683I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGCACTCTGTCGGAACGAGTT 0.617000 59 28 0 0 0.000227799 0 0 OR4M2 390538 broad.mit.edu 37 15 22369155 22369156 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr15:22369155_22369156CC>AA uc010tzu.2 + 0 678_679 c.580_581CC>AA c.(580-582)cca>AAa p.P194K abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P194S(2) 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) CAACACCTTCCCAGAGGAGTTA 0.470000 239 9 0 0 6.4e-05 0 0 RANBP2 5903 broad.mit.edu 37 2 109352090 109352091 + Missense_Mutation DNP CG AT AT rs140279690 TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:109352090_109352091CG>AT uc002tem.4 + 4 634_635 c.508_509CG>AT c.(508-510)cgg>ATg p.R170M NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 170 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGTGAACATCCGGCTAGTGGAG 0.436000 487 11 0 0 6.4e-05 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166718 96166719 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:96166718_96166719GG>TT uc022ayk.1 + 0 446_447 c.446_447GG>TT c.(445-447)tgg>tTT p.W149F PLEKHF2_uc003yhn.2_Missense_Mutation_p.W149F NM_024613 NP_078889 Q9H8W4 PKHF2_HUMAN Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA. 149 transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) GCTGCTGTCTGGGTTCCTGACT 0.421000 834 19 0 0 6.4e-05 0 0 NBEAL1 65065 broad.mit.edu 37 2 203977877 203977879 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:203977877_203977879GG>TT uc002uzt.3 + 15 2588_2590 c.2255_2257GG>TT c.(2254-2259)tgggga>tTTga p.752_753WG>F NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 752 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCAGCCTCCTGGGGAGGAACAAT 0.483000 417 11 0 0 6.4e-05 0 0 LOC646214 646214 broad.mit.edu 37 15 21936678 21936678 + RNA SNP T C C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr15:21936678T>C uc010tzj.1 - 0 c.4062A>G Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. ACCCCTTTTTTCCACATCTGT 0.398000 149 19 0 0 9.7654e-05 0 0 NAPA 8775 broad.mit.edu 37 19 47991567 47991567 + Missense_Mutation SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:47991567C>T uc002phd.2 - 10 1184 c.866G>A c.(865-867)gGc>gAc p.G289D LOC100505681_uc021uwo.1_Intron|NAPA_uc002pha.2_Missense_Mutation_p.G289D|NAPA_uc002phc.2_Missense_Mutation_p.G176D NM_003827 NP_003818 P54920 SNAA_HUMAN Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA. 289 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) CTCCTCATCGCCCTGGATGGT 0.622000 36 23 0 0 0.000117367 0 0 NOTCH2 4853 broad.mit.edu 37 1 120484302 120484303 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120484302_120484303CC>AA uc001eik.3 - 17 3124_3125 c.2827_2828GG>TT c.(2827-2829)ggg>TTg p.G943L NOTCH2_uc001eil.3_Missense_Mutation_p.G943L NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 943 EGF-like 24; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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) GCACTTATCCCCAGTGAAACCC 0.480000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 870 27 0 0 6.4e-05 0 0 NBEAL1 65065 broad.mit.edu 37 2 204009407 204009408 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:204009407_204009408GG>TT uc002uzt.3 + 30 5179_5180 c.4846_4847GG>TT c.(4846-4848)ggg>TTg p.G1616L NBEAL1_uc021vvj.1_Missense_Mutation_p.G319L NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 1616 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTACATTTTAGGGAAGCTGGAA 0.391000 601 16 0 0 6.4e-05 0 0 BCL9L 283149 broad.mit.edu 37 11 118779312 118779312 + Missense_Mutation SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr11:118779312G>A uc001pug.3 - 1 1044 c.79C>T c.(79-81)Cgc>Tgc p.R27C BCL9L_uc009zal.3_Missense_Mutation_p.R22C|MIR4492_uc021qrh.1_5'Flank NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 27 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity p.R27H(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CAATGACCGCGGGGGGACAGC 0.592000 15 7 0 0 1.12685e-05 0 0 HMGCS2 3158 broad.mit.edu 37 1 120300038 120300039 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120300038_120300039GG>TT uc001eid.3 - 4 961_962 c.873_874CC>AA c.(871-876)accctt>acAAtt p.L292I HMGCS2_uc010oxj.2_Missense_Mutation_p.L250I|HMGCS2_uc021osw.1_Missense_Mutation_p.L58I|HMGCS2_uc021osx.1_Missense_Mutation_p.L145I NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 292 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AAATCGTCAAGGGTGAAGGGTC 0.510000 783 16 0 0 6.4e-05 0 0 CA4 762 broad.mit.edu 37 17 58235086 58235086 + Silent SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr17:58235086G>A uc002iym.4 + 4 544 c.450G>A c.(448-450)tcG>tcA p.S150S CA4_uc010wou.2_Intron NM_000717 NP_000708 P22748 CAH4_HUMAN Homo sapiens carbonic anhydrase IV (CA4), mRNA. 150 bicarbonate transport|one-carbon metabolic process ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AGGGGACATCGAGGAATGTGA 0.592000 12 56 0 0 0.000147903 0 0 UPF2 26019 broad.mit.edu 37 10 12070985 12070986 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:12070985_12070986GG>TT uc001ila.3 - 1 1377_1378 c.903_904CC>AA c.(901-906)tcccac>tcAAac p.H302N UPF2_uc001ilb.3_Missense_Mutation_p.H302N|UPF2_uc001ilc.3_Missense_Mutation_p.H302N|UPF2_uc009xiz.2_Missense_Mutation_p.H302N NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 302 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ACATGAGTGTGGGACTCCCGAT 0.376000 522 15 0 0 6.4e-05 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T C C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr18:3188908T>C uc002klp.3 - 3 943 c.609A>G c.(607-609)acA>acG p.T203T MYOM1_uc002klq.3_Silent_p.T203T NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 203 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T203T(2) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTTGGATGCTGTGGACTGCT 0.532000 93 5 0 0 0.000157383 0 0 PGM2L1 283209 broad.mit.edu 37 11 74057837 74057838 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr11:74057837_74057838CG>AT uc001ovb.1 - 7 1272_1273 c.976_977CG>AT c.(976-978)cgg>ATg p.R326M NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA. 326 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TAGCACTACCCGGGCATTTTCT 0.431000 398 11 0 0 6.4e-05 0 0 CTTN 2017 broad.mit.edu 37 11 70267679 70267680 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr11:70267679_70267680CC>AA uc001opv.4 + 10 1100_1101 c.894_895CC>AA c.(892-897)tcccag>tcAAag p.Q299K CTTN_uc001opu.3_Intron|CTTN_uc001opw.4_Intron|CTTN_uc010rqm.2_Intron|CTTN_uc001opx.3_5'Flank NM_005231 NP_005222 Q14247 SRC8_HUMAN Homo sapiens cortactin (CTTN), transcript variant 1, mRNA. 299 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGCACGAGTCCCAGCAAGGCAC 0.584000 453 12 0 0 6.4e-05 0 0 DBR1 51163 broad.mit.edu 37 3 137892420 137892421 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:137892420_137892421CC>AA uc003erv.3 - 1 399_400 c.245_246GG>TT c.(244-246)ggg>gTT p.G82V DBR1_uc003eru.3_Missense_Mutation_p.G31V NM_016216 NP_057300 Q9UK59 DBR1_HUMAN Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA. 82 nucleus RNA lariat debranching enzyme activity|metal ion binding NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CATGGTTTCCCCCAATGAAGAG 0.416000 494 15 0 0 6.4e-05 0 0 FAAH 2166 broad.mit.edu 37 1 46876127 46876128 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:46876127_46876128CC>AA uc001cpu.2 + 9 1315_1316 c.1233_1234CC>AA c.(1231-1236)ccccaa>ccAAaa p.Q412K FAAH_uc001cpv.2_Non-coding_Transcript NM_001441 NP_001432 O00519 FAAH1_HUMAN Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. 412 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) TGAAGCTTCCCCAATGGCTTAA 0.584000 179 9 0 0 6.4e-05 0 0 NOL11 25926 broad.mit.edu 37 17 65733761 65733762 + Silent DNP CC AA AA rs150891541 TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr17:65733761_65733762CC>AA uc002jgd.1 + 11 1359_1360 c.1356_1357CC>AA c.(1354-1359)ccccgg>ccAAgg p.452_453PR>PR NOL11_uc010wql.1_Silent_p.270_271PR>PR|NOL11_uc010deu.1_Silent_p.47_48PR>PR NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN Homo sapiens nucleolar protein 11 (NOL11), mRNA. 452 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) CATTTTATCCCCGGAACTGTCT 0.431000 223 9 0 0 6.4e-05 0 0 WDR12 55759 broad.mit.edu 37 2 203748393 203748394 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:203748393_203748394GG>TT uc002uzl.3 - 10 1809_1810 c.1059_1060CC>AA c.(1057-1062)acccat>acAAat p.H354N NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 354 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding p.H354Y(2) endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TGCTGTTCATGGGTAGGAGACC 0.381000 482 10 0 0 6.4e-05 0 0 HOMER1 9456 broad.mit.edu 37 5 78671906 78671906 + Missense_Mutation SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:78671906C>T uc003kfy.3 - 8 2094 c.991G>A c.(991-993)Gaa>Aaa p.E331K HOMER1_uc010jab.3_3'UTR|HOMER1_uc010jac.3_Missense_Mutation_p.E201K|HOMER1_uc010jad.3_Missense_Mutation_p.E157K NM_004272 NP_004263 Q86YM7 HOME1_HUMAN Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA. 331 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) TCCAGAATTTCTAAGAGTGTC 0.393000 55 28 0 0 0.000117367 0 0 ESRP1 54845 broad.mit.edu 37 8 95680338 95680339 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:95680338_95680339CC>AA uc003ygq.4 + 9 1276_1277 c.1093_1094CC>AA c.(1093-1095)cca>AAa p.P365K ESRP1_uc003ygr.4_Missense_Mutation_p.P365K|ESRP1_uc003ygs.4_Missense_Mutation_p.P365K|ESRP1_uc003ygt.4_Missense_Mutation_p.P365K|ESRP1_uc003ygu.4_Missense_Mutation_p.P365K|ESRP1_uc003ygv.3_Missense_Mutation_p.P205K|ESRP1_uc003ygw.3_Missense_Mutation_p.P205K NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 365 RRM 2. RNA splicing|mRNA processing|regulation of RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TGTCACCTACCCAGATGGTAGG 0.510000 662 17 0 0 6.4e-05 0 0 AMBRA1 55626 broad.mit.edu 37 11 46569818 46569819 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr11:46569818_46569819CG>AT uc001ncv.2 - 1 426_427 c.112_113CG>AT c.(112-114)cgg>ATg p.R38M AMBRA1_uc009ylc.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncu.1_Missense_Mutation_p.R38M|AMBRA1_uc010rgu.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncw.2_Missense_Mutation_p.R38M|AMBRA1_uc001ncx.2_Missense_Mutation_p.R38M NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 38 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle p.R38Q(3) NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TTTCATCCACCGGGTTTTATCT 0.515000 204 7 0 0 6.4e-05 0 0 G6PD 2539 broad.mit.edu 37 X 153774257 153774257 + Silent SNP A C C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chrX:153774257A>C uc004fly.1 - 1 227 c.114T>G c.(112-114)ggT>ggG p.G38G G6PD_uc004flx.1_Silent_p.G68G|IKBKG_uc011mzr.2_Intron|IKBKG_uc010nva.3_5'Flank|IKBKG_uc004fmb.4_5'Flank|IKBKG_uc011mzs.2_5'Flank|IKBKG_uc004fmd.3_5'Flank NM_001042351 NP_001035810 P11413 G6PD_HUMAN Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. 38 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCACCGATGCACCCATGATGA 0.562000 139 37 0 0 5.1965e-05 0 0 FCHSD2 9873 broad.mit.edu 37 11 72553733 72553734 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr11:72553733_72553734GG>TT uc009ytl.3 - 16 2079_2080 c.1858_1859CC>AA c.(1858-1860)cca>AAa p.P620K FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR NM_014824 NP_055639 O94868 FCSD2_HUMAN Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA. 620 SH3 2. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TAGCACCGATGGGAAAACTCCA 0.441000 811 17 0 0 6.4e-05 0 0 UBR5 51366 broad.mit.edu 37 8 103291097 103291098 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:103291097_103291098CC>AA uc003ykr.2 - 43 6699_6700 c.6244_6245GG>TT c.(6244-6246)ggg>TTg p.G2082L UBR5_uc003yks.2_Missense_Mutation_p.G2082L NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 2082 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TAAACATTTCCCACTACTGGCA 0.371000 454 11 0 0 6.4e-05 0 0 SMG1 23049 broad.mit.edu 37 16 18848644 18848644 + Missense_Mutation SNP A G G TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr16:18848644A>G uc002dfm.3 - 45 7898 c.7535T>C c.(7534-7536)cTa>cCa p.L2512P SMG1_uc010bwb.3_Missense_Mutation_p.L2372P|SMG1_uc010bwa.3_Missense_Mutation_p.L1243P NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 2512 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 TTCCTCCAGTAGTTTGCCCTG 0.428000 134 63 0 0 0.000147903 0 0 TEX14 56155 broad.mit.edu 37 17 56676262 56676263 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr17:56676262_56676263GG>TT uc010dcz.2 - 13 2579_2580 c.2461_2462CC>AA c.(2461-2463)cca>AAa p.P821K TEX14_uc002iwr.2_Missense_Mutation_p.P815K|TEX14_uc002iws.2_Missense_Mutation_p.P815K|TEX14_uc010dda.2_Missense_Mutation_p.P595K NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 821 cytoplasm ATP binding|protein kinase activity p.P815Q(1)|p.P821Q(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGTAGGGTTGGGTAGTTGCCA 0.480000 392 12 0 0 6.4e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10415496 10415496 + Silent SNP T C C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr17:10415496T>C uc002gmo.3 - 12 1255 c.1161A>G c.(1159-1161)gcA>gcG p.A387A AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 387 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.K386R(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGAGATAGGCTGCCTTGTCAG 0.443000 83 7 0 0 0.000157383 0 0 SEC61A2 55176 broad.mit.edu 37 10 12199906 12199907 + Splice_Site DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:12199906_12199907GG>TT uc001ile.2 + 9 925 c.778_splice c.e9-1 p.G260_splice SEC61A2_uc010qbq.1_Splice_Site_p.G238_splice|SEC61A2_uc001ilf.4_Splice_Site|SEC61A2_uc001ilh.4_Splice_Site|SEC61A2_uc001ilg.4_Splice_Site_p.G260_splice NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA. 260 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) TCCTTTTTTAGGGATTTCGCGT 0.490000 238 10 0 0 6.4e-05 0 0 ZNF7 7553 broad.mit.edu 37 8 146067043 146067043 + Missense_Mutation SNP T C C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:146067043T>C uc010mge.3 + 4 721 c.584T>C c.(583-585)cTt>cCt p.L195P ZNF7_uc003zeg.4_Missense_Mutation_p.L184P|ZNF7_uc011lln.2_Missense_Mutation_p.L88P|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.L88P|COMMD5_uc003zel.1_Non-coding_Transcript NM_003416 NP_003407 P17097 ZNF7_HUMAN Homo sapiens zinc finger protein 7 (ZNF7), mRNA. 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TGTCAGCCTCTTGAAAGTCAG 0.537000 72 19 0 0 0.000132079 0 0 ALS2CR8 79800 broad.mit.edu 37 2 203846974 203846975 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:203846974_203846975CC>AA uc002uzo.2 + 14 2149_2150 c.1869_1870CC>AA c.(1867-1872)acccaa>acAAaa p.Q624K ALS2CR8_uc010zia.1_Missense_Mutation_p.Q548K|ALS2CR8_uc010zib.1_Missense_Mutation_p.Q548K|ALS2CR8_uc010zic.1_Missense_Mutation_p.Q536K|ALS2CR8_uc002uzp.2_Missense_Mutation_p.Q624K NM_001104586 NP_079020 Q8N187 AL2S8_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA. 624 breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 20 CATGCTTAACCCAAAACAATAG 0.416000 475 12 0 0 6.4e-05 0 0 PHF3 23469 broad.mit.edu 37 6 64394879 64394879 + Missense_Mutation SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:64394879C>T uc003pep.1 + 2 1281 c.1256C>T c.(1255-1257)tCa>tTa p.S419L PHF3_uc010kaf.1_Missense_Mutation_p.S419L|PHF3_uc003pem.2_Missense_Mutation_p.S372L|PHF3_uc010kag.1_Missense_Mutation_p.S331L|PHF3_uc010kah.1_Missense_Mutation_p.S233L|PHF3_uc003pen.2_Missense_Mutation_p.S331L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.S419L NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 419 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TTTAATAAATCAAACTTAGAG 0.363000 61 33 0 0 0.000109025 0 0 LARS 51520 broad.mit.edu 37 5 145533506 145533506 + Missense_Mutation SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:145533506G>A uc003lnx.1 - 10 1341 c.1103C>T c.(1102-1104)tCa>tTa p.S368L LARS_uc011dbq.1_Missense_Mutation_p.S322L|LARS_uc011dbr.1_Missense_Mutation_p.S314L|LARS_uc011dbs.1_Missense_Mutation_p.S341L NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 368 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CACCTTGTATGATGTTAAAGG 0.294000 48 28 0 0 0.000109025 0 0 RYR2 6262 broad.mit.edu 37 1 237732504 237732504 + Silent SNP C T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:237732504C>T uc001hyl.1 + 28 3603 c.3483C>T c.(3481-3483)gtC>gtT p.V1161V NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1161 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGGCGATGTCGTGGGGTGTA 0.502000 32 13 0 0 0.00010058 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159213 118159214 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:118159213_118159214CG>AT uc003yoh.3 + 1 322_323 c.92_93CG>AT c.(91-93)ccg>cAT p.P31H SLC30A8_uc010mcz.3_5'UTR|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 31 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.P31Q(6)|p.P31K(2)|p.P31T(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CAACAGAAACCGGTGAATAAAG 0.520000 460 13 0 0 6.4e-05 0 0 INSR 3643 broad.mit.edu 37 19 7170679 7170680 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:7170679_7170680CC>AA uc002mgd.1 - 5 1460_1461 c.1351_1352GG>TT c.(1351-1353)ggg>TTg p.G451L INSR_uc002mge.1_Missense_Mutation_p.G451L|INSR_uc002mgf.3_Missense_Mutation_p.G451L NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 451 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAGAGTTTCCCCTGAGTGATG 0.475000 585 15 0 0 6.4e-05 0 0 AGGF1 55109 broad.mit.edu 37 5 76330273 76330274 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:76330273_76330274GG>TT uc003ket.3 + 1 623_624 c.241_242GG>TT c.(241-243)ggg>TTg p.G81L AGGF1_uc003kes.3_Missense_Mutation_p.G81L|AGGF1_uc003keu.1_Non-coding_Transcript NM_018046 NP_060516 Q8N302 AGGF1_HUMAN Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA. 81 RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) ACTCCAACGTGGGAGAAATGAA 0.347000 319 12 0 0 6.4e-05 0 0 CDH9 1007 broad.mit.edu 37 5 26886150 26886151 + Silent DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:26886150_26886151GG>TT uc003jgs.1 - 9 1723_1724 c.1554_1555CC>AA c.(1552-1557)ccccga>ccAAga p.518_519PR>PR CDH9_uc011cnv.1_Silent_p.111_112PR>PR NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 518 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R519R(2)|p.P518P(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTGTGACCTCGGGGAGGGTCAT 0.322000 196 11 0 0 6.4e-05 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100594204 100594205 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr15:100594204_100594205GG>TT uc002bvv.1 - 15 2271_2272 c.2192_2193CC>AA c.(2191-2193)ccc>cAA p.P731Q NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 731 Spacer. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGAACTCTCCGGGGAGCTCTAT 0.530000 101 6 0 0 6.4e-05 0 0 FES 2242 broad.mit.edu 37 15 91437271 91437272 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr15:91437271_91437272GG>TT uc002bpv.3 + 17 2428_2429 c.2309_2310GG>TT c.(2308-2310)cgg>cTT p.R770L FES_uc010uqj.2_Missense_Mutation_p.R642L|FES_uc010uqk.2_Missense_Mutation_p.R752L|FES_uc002bpx.3_Missense_Mutation_p.R700L|FES_uc002bpy.3_Missense_Mutation_p.R712L|FES_uc010bny.3_Missense_Mutation_p.R629L NM_002005 NP_001996 P07332 FES_HUMAN Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA. 770 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CAGCAGACACGGGAGTTTGTGG 0.574000 452 11 0 0 6.4e-05 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A G G rs41559716 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:29910693A>G uc003nol.3 + 1 317 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA. 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to plasma membrane MHC class I receptor activity p.Q78R(4)|p.Q78*(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 13 6 0 0 3.59834e-05 0 0 UPF2 26019 broad.mit.edu 37 10 12077265 12077266 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:12077265_12077266GG>TT uc001ila.3 - 0 631_632 c.157_158CC>AA c.(157-159)cct>AAt p.P53N UPF2_uc001ilb.3_Missense_Mutation_p.P53N|UPF2_uc001ilc.3_Missense_Mutation_p.P53N|UPF2_uc009xiz.2_Missense_Mutation_p.P53N NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 53 Glu/Lys-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CTTGTCTTCAGGGGCCTTGCTG 0.460000 825 17 0 0 6.4e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 144816652 144816653 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:144816652_144816653GG>TT uc009wig.1 + 11 1747_1748 c.1553_1554GG>TT c.(1552-1554)cgg>cTT p.R518L NBPF10_uc010oxo.1_Missense_Mutation_p.R520L|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.R249L|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.R180L NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 520 p.H517Y(1)|p.R262L(1) 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) CATGTTGAACGGGAAGATGCTG 0.446000 343 17 0 0 6.4e-05 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144873913 144873914 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:144873913_144873914GG>TT uc021ouh.1 - 30 5345_5346 c.5043_5044CC>AA c.(5041-5046)ccccag>ccAAag p.Q1682K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q1682K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1638K|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q689K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1682 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGGTATTCTGGGGAGTTGGCA 0.520000 T PDGFRB MPD 835 21 0 0 6.4e-05 0 0 PRDM16 63976 broad.mit.edu 37 1 3328709 3328709 + Missense_Mutation SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:3328709G>A uc001akf.3 + 8 2030 c.1948G>A c.(1948-1950)Ggg>Agg p.G650R PRDM16_uc001ake.3_Missense_Mutation_p.G650R|PRDM16_uc009vlh.3_Missense_Mutation_p.G351R|PRDM16_uc001akc.3_Missense_Mutation_p.G650R NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 650 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCCCAAGTTTGGGGGCGGCTT 0.687000 T EVI1 """MDS, AML""" 5 34 0 0 0.000132358 0 0 PCDH15 65217 broad.mit.edu 37 10 55996590 55996590 + Silent SNP G A A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:55996590G>A uc010qhy.1 - 9 1388 c.993C>T c.(991-993)atC>atT p.I331I PCDH15_uc010qhq.2_Silent_p.I331I|PCDH15_uc010qhr.2_Silent_p.I326I|PCDH15_uc021pqv.1_Silent_p.I326I|PCDH15_uc021pqw.1_Silent_p.I331I|PCDH15_uc010qht.2_Silent_p.I326I|PCDH15_uc021pqx.1_Silent_p.I326I|PCDH15_uc001jjv.1_Silent_p.I304I|PCDH15_uc021pqy.1_Silent_p.I326I|PCDH15_uc021pqz.1_Silent_p.I304I|PCDH15_uc010qhv.1_Silent_p.I326I|PCDH15_uc010qhw.1_Silent_p.I289I|PCDH15_uc010qhx.1_Silent_p.I326I|PCDH15_uc010qhz.1_Silent_p.I326I|PCDH15_uc010qia.1_Silent_p.I304I|PCDH15_uc001jju.1_Silent_p.I326I|PCDH15_uc010qib.1_Silent_p.I304I|PCDH15_uc001jjw.3_Silent_p.I326I NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 326 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AACCAACAAGGATGGAATAGA 0.363000 HNSCC(58;0.16) 59 27 0 0 0.000147802 0 0 APOB 338 broad.mit.edu 37 2 21234704 21234705 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:21234704_21234705CC>AA uc002red.3 - 25 5163_5164 c.5035_5036GG>TT c.(5035-5037)ggg>TTg p.G1679L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1679 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATAGATGCCCCAGAGAGGCCA 0.485000 378 11 0 0 6.4e-05 0 0 UPF1 5976 broad.mit.edu 37 19 18960966 18960966 + Nonsense_Mutation SNP G T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:18960966G>T uc002nkg.3 + 3 819 c.544G>T c.(544-546)Gag>Tag p.E182* UPF1_uc002nkf.3_Nonsense_Mutation_p.E182* NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 182 Sufficient for interaction with RENT2. DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GACAGTCCTGGAGTGCTACAA 0.572000 38 24 1.22574e-08 9.36267e-07 3.10358e-05 1 0 BLM 641 broad.mit.edu 37 15 91304022 91304023 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr15:91304022_91304023CC>AA uc002bpr.3 + 6 1516_1517 c.1419_1420CC>AA c.(1417-1422)acccta>acAAta p.L474I BLM_uc010uqh.2_Missense_Mutation_p.L474I|BLM_uc010uqi.2_Missense_Mutation_p.L99I|BLM_uc010bnx.3_Missense_Mutation_p.L474I NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 474 G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGACTACCACCCTAGGAAAGAC 0.431000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 478 13 0 0 6.4e-05 0 0 HAS2 3037 broad.mit.edu 37 8 122641109 122641110 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:122641109_122641110CG>AT uc003yph.2 - 1 1009_1010 c.471_472CG>AT c.(469-474)cccggt>ccATgt p.G158C NM_005328 NP_005319 Q92819 HAS2_HUMAN Homo sapiens hyaluronan synthase 2 (HAS2), mRNA. 158 integral to plasma membrane hyaluronan synthase activity p.G158S(2) HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TCTGTCTCACCGGGACCCTTTT 0.436000 390 9 0 0 6.4e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120461160 120461161 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120461160_120461161CG>AT uc001eik.3 - 31 6094_6095 c.5797_5798CG>AT c.(5797-5799)cga>ATa p.R1933I NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1933 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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) ATCAGTTACTCGGTTGCGAATC 0.480000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 867 14 0 0 6.4e-05 0 0 IDE 3416 broad.mit.edu 37 10 94215379 94215380 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:94215379_94215380GG>TT uc001kia.3 - 23 2993_2994 c.2917_2918CC>AA c.(2917-2919)cca>AAa p.P973K IDE_uc010qnp.2_Missense_Mutation_p.P418K|IDE_uc001khz.3_Missense_Mutation_p.P418K NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 973 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTTTGACATGGGAACTCTCCA 0.317000 658 14 0 0 6.4e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120497663 120497664 + Splice_Site DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120497663_120497664CC>AA uc001eik.3 - 13 2516 c.2219_splice c.e13+1 p.G740_splice NOTCH2_uc001eil.3_Splice_Site_p.G740_splice|NOTCH2_uc021osy.1_Splice_Site_p.G701_splice|NOTCH2_uc001eim.4_Splice_Site_p.G657_splice NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 740 EGF-like 19. Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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) AGCTACTCACCCACTGAGACCT 0.515000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 884 23 0 0 6.4e-05 0 0 CEP70 80321 broad.mit.edu 37 3 138219327 138219328 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:138219327_138219328CC>AA uc003esl.3 - 14 1648_1649 c.1450_1451GG>TT c.(1450-1452)gga>TTa p.G484L CEP70_uc011bmk.2_Missense_Mutation_p.G464L|CEP70_uc011bml.2_Missense_Mutation_p.G466L|CEP70_uc011bmm.2_Missense_Mutation_p.G332L|CEP70_uc003esm.3_Missense_Mutation_p.G484L NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 484 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 GGGATAGACTCCATTTAAAGAA 0.371000 671 16 0 0 6.4e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120483249 120483250 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120483249_120483250CC>AA uc001eik.3 - 18 3408_3409 c.3111_3112GG>TT c.(3109-3114)gaggga>gaTTga p.1037_1038EG>D* NOTCH2_uc001eil.3_Nonsense_Mutation_p.1037_1038EG>D* NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1037 EGF-like 27; calcium-binding (Potential). E -> D (in Ref. 4; AAB19224). Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.E1037D(2) 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) ACACACGTTCCCTCATTCAGGC 0.520000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 907 21 0 0 6.4e-05 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160747 12160748 + Splice_Site DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:12160747_12160748GG>TT uc001ild.4 + 15 2502 c.2403_splice c.e15-1 p.K801_splice NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA. 801 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGTCCAACAGGGTTAAGACCC 0.475000 329 13 0 0 6.4e-05 0 0 ATR 545 broad.mit.edu 37 3 142224106 142224107 + Nonsense_Mutation DNP CG AT AT rs142881746 byFrequency TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:142224106_142224107CG>AT uc003eux.4 - 28 5192_5193 c.5070_5071CG>AT c.(5068-5073)gccgga>gcATga p.G1691* NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1691 FAT. DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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 GCACTGACTCCGGCCACTCCAT 0.386000 Other conserved DNA damage response genes 259 8 0 0 6.4e-05 0 0 AGAP5 729092 broad.mit.edu 37 10 75435633 75435634 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:75435633_75435634GG>TT uc009xri.3 - 7 825_826 c.784_785CC>AA c.(784-786)cca>AAa p.P262K AGAP5_uc001juu.4_Missense_Mutation_p.P223K NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA. 262 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 CTCTTTGTCTGGGTGACTCCCT 0.554000 221 9 0 0 6.4e-05 0 0 SLC16A9 220963 broad.mit.edu 37 10 61414014 61414015 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:61414014_61414015GG>TT uc010qig.1 - 4 1218_1219 c.769_770CC>AA c.(769-771)ccc>AAc p.P257N NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA. 257 urate metabolic process integral to membrane|plasma membrane symporter activity p.P257H(2) kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 TGTCACTGTGGGGTTTTTATGA 0.401000 204 9 0 0 6.4e-05 0 0 NBPF1 55672 broad.mit.edu 37 1 16907242 16907243 + Missense_Mutation DNP GG TT TT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:16907242_16907243GG>TT uc009vos.1 - 15 2476_2477 c.1588_1589CC>AA c.(1588-1590)cca>AAa p.P530K NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 530 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTTT 0.421000 649 20 0 0 6.4e-05 0 0 FAM71B 153745 broad.mit.edu 37 5 156589729 156589730 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:156589729_156589730CC>AA uc003lwn.3 - 1 1646_1647 c.1546_1547GG>TT c.(1546-1548)ggg>TTg p.G516L NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 516 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGGTTCTTCCCCAGTTCCTGA 0.495000 569 13 0 0 6.4e-05 0 0 HERC2P2 400322 broad.mit.edu 37 15 23326594 23326595 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr15:23326594_23326595CC>AA uc001yvr.2 - 10 1526_1527 c.1326_1327GG>TT c.(1324-1329)cagggt>caTTgt p.442_443QG>HC HERC2P2_uc010ayf.1_Intron|HERC2P2_uc001yvp.4_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA. GGATAAAGACCCTGCACATTCT 0.416000 196 8 0 0 6.4e-05 0 0 FHOD3 80206 broad.mit.edu 37 18 34335106 34335106 + Missense_Mutation SNP G T T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr18:34335106G>T uc021uiv.1 + 24 4354 c.4257G>T c.(4255-4257)atG>atT p.M1419I FHOD3_uc002kzs.1_Missense_Mutation_p.M1244I|FHOD3_uc002kzt.1_Missense_Mutation_p.M1227I|FHOD3_uc010dmz.1_Missense_Mutation_p.M959I|FHOD3_uc010dnb.1_Missense_Mutation_p.M223I NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 1227 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TACTCTTTATGGGCCATCCAC 0.358000 55 5 8.12818e-05 0.0060997 8.12818e-05 1 0 PSAP 5660 broad.mit.edu 37 10 73578442 73578443 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:73578442_73578443CC>AA uc001jsm.3 - 12 1574_1575 c.1470_1471GG>TT c.(1468-1473)ttggga>ttTTga p.490_491LG>F* NM_002778 NP_002769 P07602 SAP_HUMAN Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA. 490 Saposin A-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TTCTCAGTTCCCAACAAGGGCT 0.520000 222 8 0 0 6.4e-05 0 0 SGCD 6444 broad.mit.edu 37 5 156074494 156074495 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:156074494_156074495CC>AA uc003lwc.4 + 6 1042_1043 c.523_524CC>AA c.(523-525)cct>AAt p.P175N SGCD_uc003lwb.3_Missense_Mutation_p.P175N|SGCD_uc003lwd.4_Missense_Mutation_p.P174N NM_000337 NP_001121681 Q92629 SGCD_HUMAN Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA. 174 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACAGTGTTCCCTAAATCTATA 0.441000 285 12 0 0 6.4e-05 0 0 DMXL1 1657 broad.mit.edu 37 5 118525496 118525497 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:118525496_118525497CG>AT uc010jcl.1 + 28 7410_7411 c.7229_7230CG>AT c.(7228-7230)tcg>tAT p.S2410Y DMXL1_uc003ksd.2_Missense_Mutation_p.S2410Y|DMXL1_uc021ycw.1_Missense_Mutation_p.S2237Y NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 2410 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACCCCTTCCTCGGCACCAGTAA 0.431000 130 6 0 0 6.4e-05 0 0 INTS8 55656 broad.mit.edu 37 8 95862268 95862269 + Missense_Mutation DNP CC AA AA TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:95862268_95862269CC>AA uc003yhb.3 + 11 1582_1583 c.1456_1457CC>AA c.(1456-1458)cct>AAt p.P486N INTS8_uc003yha.1_Missense_Mutation_p.P486N|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P313N NM_017864 NP_060334 Q75QN2 INT8_HUMAN Homo sapiens integrator complex subunit 8 (INTS8), mRNA. 486 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) GAAGAGATCCCCTAGAGTAAAT 0.391000 701 19 0 0 6.4e-05 0 0 NCOA7 135112 broad.mit.edu 37 6 126211073 126211073 + Missense_Mutation SNP A G G TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:126211073A>G uc003qai.3 + 8 2242 c.1873A>G c.(1873-1875)Aat>Gat p.N625D NCOA7_uc010kes.3_Missense_Mutation_p.N625D|NCOA7_uc003qae.4_Missense_Mutation_p.N625D|NCOA7_uc010ket.3_Missense_Mutation_p.N510D|NCOA7_uc003qah.3_Missense_Mutation_p.N614D NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA. 625 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ACAAATGGATAATAAATCTGA 0.373000 18 37 0 0 6.26518e-05 0 0 NOTCH2 4853 broad.mit.edu 37 1 120506320 120506321 + Missense_Mutation DNP CG AT AT TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120506320_120506321CG>AT uc001eik.3 - 10 2088_2089 c.1791_1792CG>AT c.(1789-1794)cccggg>ccATgg p.G598W NOTCH2_uc001eil.3_Missense_Mutation_p.G598W|NOTCH2_uc021osy.1_Missense_Mutation_p.G559W|NOTCH2_uc001eim.4_Missense_Mutation_p.G515W NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 598 EGF-like 15; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P597P(2) 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) CCCATGTACCCGGGATTGCAGA 0.525000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 869 17 0 0 6.4e-05 0 0 MDS2 259283 broad.mit.edu 37 1 23953539 23953540 + RNA DEL GA - - TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:23953539_23953540delGA uc001bhi.3 + 2 c.829_830delGA MDS2_uc001bhj.3_Non-coding_Transcript Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA. breast(1)|ovary(2) 3 AAAGGGAGGGGAGAGAGAGAGA 0.535 T ETV6 MDS --- 4 --- --- 2 --- NBPF7 343505 broad.mit.edu 37 1 120379932 120379932 + Frame_Shift_Del DEL G - - rs115348036 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120379932delG uc010oxk.2 - 5 1510 c.889delC c.(889-891)cagfs p.Q297fs NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA. 297 NBPF 2. cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2) 24 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) AGAGTTACCTGGGGGGGCACT 0.448 --- 1591 --- --- 7 --- LMBRD2 92255 broad.mit.edu 37 5 36123065 36123066 + Splice_Site INS - A A rs72438158 TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:36123065_36123066insA uc003jkb.1 - 8 1238 c.823_splice c.e8-1 p.C275_splice NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA. 275 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTAGGGCACtaaaaaaaaaaa 0.252 --- 45 --- --- 7 --- NDUFS7 374291 broad.mit.edu 37 19 1388895 1388896 + Frame_Shift_Del DEL TG - - TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:1388895_1388896delTG uc002lsf.2 + 4 487_488 c.378_379delTG c.(376-381)tatgtgfs p.Y126fs NDUFS7_uc002lsh.3_Frame_Shift_Del_p.Y126fs|NDUFS7_uc002lsg.2_Frame_Shift_Del_p.Y69fs|NDUFS7_uc002lse.4_Frame_Shift_Del_p.Y62fs O75251 NDUS7_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA. 62 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) 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) NADH(DB00157) GGGGCGAGTATGTGGTGGCCAA 0.663 --- 4 --- --- 2 ---