Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF217 7764 broad.mit.edu 37 20 52188372 52188372 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:52188372G>A ENST00000371471.2 - 5 3483 c.3058C>T c.(3058-3060)Caa>Taa p.Q1020* RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Nonsense_Mutation_p.Q1020* O75362 ZN217_HUMAN zinc finger protein 217 1020 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GATAAGTGTTGATATGACACA 0.299000 29 82 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125558471 125558471 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:125558471C>T ENST00000316519.6 + 2 389 c.183C>T c.(181-183)ttC>ttT p.F61F AACS_ENST00000261686.6_Silent_p.F61F NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 61 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ATTCAGACTTCTGGGCAGAGT 0.403000 27 64 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484560 45484560 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:45484560C>A ENST00000359600.5 - 14 3329 c.3124G>T c.(3124-3126)Gtg>Ttg p.V1042L NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 1042 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GCCCAGAGCACATCATTGATG 0.572000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 30 5.18039e-06 5.42639e-06 1 1 0 SULT1B1 27284 broad.mit.edu 37 4 70615504 70615504 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:70615504G>A ENST00000310613.3 - 4 607 c.310C>T c.(310-312)Cgg>Tgg p.R104W NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol p.R104W(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TTCACAATCCGGGGTGATGGA 0.378000 17 48 0 0 1 0 0 DCTN2 10540 broad.mit.edu 37 12 57927804 57927804 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:57927804C>T ENST00000548249.1 - 7 868 c.601G>A c.(601-603)Gat>Aat p.D201N DCTN2_ENST00000537439.1_Missense_Mutation_p.D178N|DCTN2_ENST00000434715.3_Missense_Mutation_p.D206N|DCTN2_ENST00000543672.1_Missense_Mutation_p.D206N NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 201 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 AGGCTGCTATCTGGGGGGGTC 0.507000 13 34 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121726122 121726122 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:121726122C>T ENST00000393376.1 - 18 2223 c.2128G>A c.(2128-2130)Gag>Aag p.E710K AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.E710K Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 710 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCATAAATCTCAGCATATTTC 0.428000 16 59 0 0 1 0 0 MKS1 54903 broad.mit.edu 37 17 56289744 56289744 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:56289744C>G ENST00000393119.2 - 9 984 c.910G>C c.(910-912)Gag>Cag p.E304Q MKS1_ENST00000537529.2_Missense_Mutation_p.E294Q|MKS1_ENST00000337050.7_Missense_Mutation_p.E304Q|MKS1_ENST00000313863.6_Missense_Mutation_p.E304Q|MKS1_ENST00000546108.1_Missense_Mutation_p.E101Q NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 304 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTCACCATCTCAAAGTCGGTG 0.502000 13 46 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170048422 170048422 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:170048422C>G ENST00000263816.3 - 48 9237 c.8952G>C c.(8950-8952)gaG>gaC p.E2984D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2984 LDL-receptor class A 22. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATTCTGATTCTCATCGTAGC 0.473000 21 14 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184368494 184368494 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:184368494G>A ENST00000504169.1 + 3 1864 c.1657G>A c.(1657-1659)Gaa>Aaa p.E553K CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 553 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CAGAGGCAGTGAAATAGAAGA 0.348000 28 70 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344550 53344550 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:53344550C>T ENST00000595646.1 - 4 1117 c.997G>A c.(997-999)Gat>Aat p.D333N ZNF468_ENST00000396409.4_Missense_Mutation_p.D280N|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.D280N|ZNF468_ENST00000243639.4_3'UTR Q5VIY5 ZN468_HUMAN zinc finger protein 468 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) AAAGCCTCATCACAAACCTTA 0.358000 32 160 0 0 1 0 0 DGCR6 8214 broad.mit.edu 37 22 18898504 18898504 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr22:18898504C>T ENST00000331444.6 + 4 628 c.476C>T c.(475-477)gCg>gTg p.A159V DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_Missense_Mutation_p.A23V NM_005675.4 NP_005666.2 Q14129 DGCR6_HUMAN DiGeorge syndrome critical region gene 6 159 cell adhesion|organ morphogenesis nucleus|proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1) 3 CTGGAGAAGGCGGGGGTGGCT 0.647000 6 8 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220935151 220935151 + Nonsense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:220935151C>T ENST00000366913.3 + 3 796 c.598C>T c.(598-600)Cag>Tag p.Q200* MARC2_ENST00000359316.2_Nonsense_Mutation_p.Q200* NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 200 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CACTCTTGATCAGAATTTCCA 0.428000 31 46 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110839556 110839556 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr13:110839556C>T ENST00000375820.4 - 25 1778 c.1657G>A c.(1657-1659)Ggc>Agc p.G553S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 553 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGTCATGCCGGGCTGTCCT 0.582000 50 29 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35021879 35021879 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:35021879G>A ENST00000360359.3 + 12 2152 c.2014G>A c.(2014-2016)Gag>Aag p.E672K ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 672 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 ATTTCAGATTGAGAAAATCAT 0.488000 5 27 0 0 1 0 0 CPNE1 8904 broad.mit.edu 37 20 34220269 34220269 + Silent SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:34220269C>A ENST00000317619.3 - 6 742 c.348G>T c.(346-348)ctG>ctT p.L116L CPNE1_ENST00000397445.1_Silent_p.L116L|CPNE1_ENST00000397443.1_Silent_p.L116L|CPNE1_ENST00000397442.1_Silent_p.L116L|CPNE1_ENST00000397446.1_Silent_p.L116L|CPNE1_ENST00000352393.4_Silent_p.L116L|RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000317677.5_Silent_p.L121L Q99829 CPNE1_HUMAN copine I 116 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTCCAGGCTTCAGCATCAAGG 0.542000 10 13 1.49906e-05 1.54861e-05 1 1 0 FASTKD2 22868 broad.mit.edu 37 2 207636720 207636720 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:207636720G>A ENST00000236980.6 + 5 1441 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K FASTKD2_ENST00000402774.3_Missense_Mutation_p.E365K|FASTKD2_ENST00000403094.3_Missense_Mutation_p.E365K NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 365 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) ACTCCTGGATGAATGCAGTAA 0.358000 16 59 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806089 1806089 + Missense_Mutation SNP G G T rs121913479 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:1806089G>T ENST00000340107.4 + 9 1370 c.1114G>T c.(1114-1116)Ggc>Tgc p.G372C FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 370 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G370C(108)|p.A369_G370>VC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGACGAGGCGGGCAGTGTGTA 0.687000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 125 86 4.21061e-56 4.65775e-56 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152652535 152652535 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:152652535C>T ENST00000367255.5 - 78 13886 c.13285G>A c.(13285-13287)Gat>Aat p.D4429N SYNE1_ENST00000448038.1_Missense_Mutation_p.D4358N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4358N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D4429N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4294N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4429 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTGTGCATCAGAGAGAGCC 0.493000 HNSCC(10;0.0054) 6 52 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G C rs104886003 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:178936091G>C ENST00000263967.3 + 10 1790 c.1633G>C c.(1633-1635)Gag>Cag p.E545Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 15 21 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231135344 231135344 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:231135344G>C ENST00000392045.3 + 15 1602 c.1488G>C c.(1486-1488)aaG>aaC p.K496N SP140_ENST00000420434.3_Missense_Mutation_p.K469N|SP140_ENST00000343805.6_Missense_Mutation_p.K436N|SP140_ENST00000350136.5_Missense_Mutation_p.K365N|SP140_ENST00000486687.2_Missense_Mutation_p.K420N|SP140_ENST00000417495.3_Missense_Mutation_p.K382N NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 496 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAAAACCCAAGAGGAAAAGAA 0.289000 13 32 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47777197 47777197 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:47777197C>A ENST00000398545.4 - 5 1044 c.927G>T c.(925-927)ttG>ttT p.L309F NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 309 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GCTTCATGTTCAAGTCCTGTT 0.423000 66 248 3.61678e-42 3.9891e-42 1 1 0 TIMM8A 1678 broad.mit.edu 37 X 100601508 100601508 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:100601508G>A ENST00000372902.3 - 2 804 c.273C>T c.(271-273)ttC>ttT p.F91F NM_004085.3 NP_004076.1 O60220 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 homolog A (yeast) 91 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding endometrium(1)|lung(1) 2 GGCTTTCTGAGAAAACTGGCT 0.443000 49 74 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651487 8651487 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:8651487C>G ENST00000270328.4 - 19 2624 c.2358G>C c.(2356-2358)caG>caC p.Q786H ADAMTS10_ENST00000597188.1_Missense_Mutation_p.Q786H|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.Q273H Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 786 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CTTCGAGGCTCTGGACCTGGT 0.612000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 58 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882650 110882650 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:110882650C>T ENST00000369784.3 + 1 1523 c.623C>T c.(622-624)tCg>tTg p.S208L RBM15_ENST00000602849.1_Missense_Mutation_p.S208L|RBM15_ENST00000487146.2_Missense_Mutation_p.S208L NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 208 RRM 1. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AGTCATCTGTCGGGTTCTGGC 0.597000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 40 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77256781 77256781 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:77256781C>T ENST00000248594.6 + 13 2057 c.1785C>T c.(1783-1785)ctC>ctT p.L595L PTPN12_ENST00000435495.2_Silent_p.L465L|PTPN12_ENST00000415482.2_Silent_p.L476L NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 595 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 GAACACCCCTCAGTTTTACTA 0.403000 21 179 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55573415 55573415 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:55573415C>G ENST00000436346.1 - 10 1778 c.937G>C c.(937-939)Gat>Cat p.D313H CCDC88A_ENST00000413716.2_Missense_Mutation_p.D313H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D313H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D313H NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 313 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 CGAAGTGCATCTAATTCATCT 0.328000 31 38 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35937676 35937676 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:35937676C>T ENST00000339208.6 - 7 765 c.625G>A c.(625-627)Gat>Aat p.D209N SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.D209N|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000588194.1_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Intron NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 209 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTACTTATATCACAAGATACT 0.373000 20 54 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111980949 111980949 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:111980949G>A ENST00000361822.3 + 11 1161 c.1032G>A c.(1030-1032)gtG>gtA p.V344V AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 344 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 ATCAGCAAGTGAAACTGGTCA 0.358000 103 38 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77896090 77896090 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:77896090C>T ENST00000553888.1 - 17 1710 c.1200G>A c.(1198-1200)aaG>aaA p.K400K VIPAS39_ENST00000327028.4_Silent_p.K387K|VIPAS39_ENST00000557658.1_Silent_p.K400K|VIPAS39_ENST00000343765.2_Silent_p.K400K|VIPAS39_ENST00000448935.2_Silent_p.K351K|VIPAS39_ENST00000556412.1_Silent_p.K426K NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog p.K400N(1) GTGCTCTCTTCTTGGTATAGC 0.493000 42 98 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 970316 970316 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:970316G>C ENST00000537687.1 + 7 2401 c.1758G>C c.(1756-1758)gaG>gaC p.E586D WNK1_ENST00000340908.4_Missense_Mutation_p.E179D|WNK1_ENST00000535572.1_Missense_Mutation_p.E586D|WNK1_ENST00000315939.6_Missense_Mutation_p.E586D|WNK1_ENST00000530271.2_Missense_Mutation_p.E586D NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 586 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AGCAGGAAGAGAGCAGTCTCA 0.473000 36 57 0 0 1 0 0 TSFM 10102 broad.mit.edu 37 12 58189979 58189979 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:58189979G>A ENST00000454289.3 + 6 804 c.591G>A c.(589-591)atG>atA p.M197I TSFM_ENST00000550559.1_Intron|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000350762.5_Missense_Mutation_p.M157I|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000323833.8_Missense_Mutation_p.M218I|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000540550.1_Silent_p.*168* NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 197 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GAGAAAACATGATTCTTAAAC 0.448000 10 16 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18895415 18895415 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:18895415C>T ENST00000446231.2 - 9 1508 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K SMG1_ENST00000389467.3_Missense_Mutation_p.E366K|SMG1_ENST00000565224.1_Missense_Mutation_p.E340K Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 366 Interaction with SMG8 and SMG9. 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 TCCATGTCTTCCAGAAACTGA 0.343000 11 35 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8404176 8404176 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:8404176C>G ENST00000360416.3 - 29 3850 c.3712G>C c.(3712-3714)Gag>Cag p.E1238Q MYH10_ENST00000396239.1_Missense_Mutation_p.E1228Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1223Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1207Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1207 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCTGAGAGCTCCTCCAGGGCT 0.547000 17 21 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186291658 186291658 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:186291658C>T ENST00000367478.4 - 44 6654 c.6358G>A c.(6358-6360)Ggt>Agt p.G2120S NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACCATGCCACCTATTCCTGGA 0.378000 T NTRK1 papillary thyroid 13 30 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74833581 74833581 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:74833581C>G ENST00000412021.2 - 4 414 c.81G>C c.(79-81)caG>caC p.Q27H P4HA1_ENST00000307116.2_Missense_Mutation_p.Q27H|P4HA1_ENST00000263556.3_Missense_Mutation_p.Q27H|P4HA1_ENST00000394890.2_Missense_Mutation_p.Q27H|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000440381.1_Missense_Mutation_p.Q27H|P4HA1_ENST00000373008.2_Missense_Mutation_p.Q27H NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 27 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AATCAGTCATCTGACCTAGAA 0.333000 5 27 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3886769 3886769 + Silent SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:3886769C>G ENST00000319331.3 + 2 1205 c.444C>G c.(442-444)ctC>ctG p.L148L SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 148 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TTCAAGAACTCTACATCAACC 0.408000 37 39 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154067535 154067535 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:154067535C>T ENST00000368559.3 - 15 2134 c.2063G>A c.(2062-2064)cGa>cAa p.R688Q NUP210L_ENST00000271854.3_Missense_Mutation_p.R688Q NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 688 integral to membrane p.R688Q(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAAAAAAAATCGGGAGGGCTC 0.468000 18 26 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25973097 25973097 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:25973097C>T ENST00000435504.4 - 12 1621 c.1328G>A c.(1327-1329)aGa>aAa p.R443K ASXL2_ENST00000272341.4_Missense_Mutation_p.R183K|ASXL2_ENST00000336112.4_Missense_Mutation_p.R415K|ASXL2_ENST00000404843.1_Missense_Mutation_p.R183K Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCTTCTTTTCTGCCTGGTGA 0.473000 15 159 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134257515 134257515 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:134257515G>A ENST00000524765.1 - 2 4583 c.39C>T c.(37-39)atC>atT p.I13I B3GAT1_ENST00000312527.4_Silent_p.I13I|B3GAT1_ENST00000537389.1_Silent_p.I26I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Silent_p.I13I Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 13 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) AGGGCAGCACGATGAGGACGA 0.622000 8 26 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151277173 151277173 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:151277173G>A ENST00000367321.3 + 17 2043 c.1769G>A c.(1768-1770)gGg>gAg p.G590E NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 590 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ATAACCATCGGGCAGGGAAAC 0.483000 10 24 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726769 63726769 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:63726769C>T ENST00000421025.1 + 5 1027 c.758C>T c.(757-759)tCa>tTa p.S253L ZNF679_ENST00000255746.4_Missense_Mutation_p.S253L NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ACCTGGTCCTCAACCCTTACT 0.433000 12 48 0 0 1 0 0 TXLNA 200081 broad.mit.edu 37 1 32660671 32660671 + Nonsense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:32660671G>T ENST00000373609.1 + 10 1797 c.1516G>T c.(1516-1518)Gag>Tag p.E506* TXLNA_ENST00000373610.3_Nonsense_Mutation_p.E506* P40222 TXLNA_HUMAN taxilin alpha 506 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GAGGAGGCCAGAGGGGCCTGG 0.642000 9 24 1.12685e-05 1.17055e-05 1 1 0 CAST 831 broad.mit.edu 37 5 96082069 96082069 + Silent SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:96082069A>G ENST00000395813.1 + 17 1410 c.1224A>G c.(1222-1224)ctA>ctG p.L408L CAST_ENST00000504465.1_Silent_p.L253L|CAST_ENST00000511782.1_Silent_p.L311L|CAST_ENST00000341926.3_Silent_p.L325L|CAST_ENST00000359176.4_Silent_p.L389L|CAST_ENST00000509903.1_Silent_p.L290L|CAST_ENST00000508608.1_Silent_p.L371L|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508830.1_Silent_p.L408L|CAST_ENST00000511049.1_Silent_p.L311L|CAST_ENST00000508579.1_Silent_p.L40L|CAST_ENST00000395812.2_Silent_p.L367L|CAST_ENST00000515663.1_Silent_p.L48L|CAST_ENST00000338252.3_Silent_p.L312L|CAST_ENST00000309190.5_Silent_p.L303L|CAST_ENST00000325674.7_Silent_p.L373L|CAST_ENST00000510756.1_Silent_p.L386L NM_001284213.1 NP_001271142.1 P20810 ICAL_HUMAN calpastatin 325 C -> S (in dbSNP:rs754615). calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) AAGAAAAACTAGAGAAGTGTG 0.388000 14 47 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518403 7518403 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:7518403G>C ENST00000359920.6 + 7 1595 c.1342G>C c.(1342-1344)Gat>Cat p.D448H ARHGEF18_ENST00000319670.9_Missense_Mutation_p.D290H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.K405N NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 448 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCTCATCAAAGATATCATCTC 0.507000 15 60 0 0 1 0 0 SMAD7 4092 broad.mit.edu 37 18 46447790 46447790 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:46447790G>A ENST00000262158.2 - 4 1519 c.1233C>T c.(1231-1233)ttC>ttT p.F411F SMAD7_ENST00000589634.1_Silent_p.F410F|SMAD7_ENST00000591805.1_Silent_p.F196F NM_001190821.1|NM_005904.3 NP_001177750.1|NP_005895.1 O15105 SMAD7_HUMAN SMAD family member 7 411 MH2. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) AGCTGCTGATGAACTGGCGGG 0.607000 8 32 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62321724 62321724 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:62321724C>T ENST00000371158.2 + 18 2249 c.2135C>T c.(2134-2136)tCa>tTa p.S712L INADL_ENST00000316485.6_Missense_Mutation_p.S712L NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 712 PDZ 5. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CCTACAAGATCAGTGATTGTG 0.463000 13 44 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37427401 37427401 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:37427401C>T ENST00000373451.4 + 10 1200 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W NM_015050.2 NP_055865.1 cap methyltransferase 1 346 CTCTGCTTTTCGGAATTTTGT 0.448000 54 174 0 0 1 0 0 HOXC10 3226 broad.mit.edu 37 12 54383132 54383132 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:54383132C>A ENST00000303460.4 + 2 1005 c.931C>A c.(931-933)Caa>Aaa p.Q311K HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 311 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 TACAGACAGACAAGTCAAAAT 0.423000 OREG0021882 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 34 2.52088e-20 2.77223e-20 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153910041 153910041 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:153910041C>G ENST00000361217.4 - 15 2573 c.2155G>C c.(2155-2157)Gag>Cag p.E719Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 719 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCAGGTTGCTCTTGAAGAGAC 0.617000 4 16 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90504322 90504322 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:90504322G>C ENST00000369393.3 - 3 643 c.528C>G c.(526-528)ctC>ctG p.L176L MDN1_ENST00000428876.1_Silent_p.L176L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 176 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CATGGCTTCTGAGGAGAGGGA 0.537000 15 16 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764012 140764012 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:140764012G>A ENST00000518325.1 + 1 1546 c.1546G>A c.(1546-1548)Gcg>Acg p.A516T PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCCTGTACGCGCTGCAATC 0.517000 16 9 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155001827 155001827 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:155001827C>A ENST00000368424.3 - 8 1282 c.1224G>T c.(1222-1224)gaG>gaT p.E408D DCST2_ENST00000295536.5_Missense_Mutation_p.E408D NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 408 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGTTGAAGGTCTCCAGAATGT 0.552000 28 50 5.60225e-13 6.0718e-13 1 1 0 SOAT1 6646 broad.mit.edu 37 1 179316748 179316748 + Silent SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:179316748C>G ENST00000367619.3 + 12 1274 c.1131C>G c.(1129-1131)ctC>ctG p.L377L SOAT1_ENST00000539888.1_Silent_p.L312L|SOAT1_ENST00000540564.1_Silent_p.L319L|SOAT1_ENST00000535686.1_Silent_p.L113L NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 377 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TGCTGATTCTCTTCCTTACTT 0.343000 32 52 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43327853 43327853 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr21:43327853C>G ENST00000380486.3 - 9 1300 c.1059G>C c.(1057-1059)aaG>aaC p.K353N C2CD2_ENST00000329623.7_Missense_Mutation_p.K198N NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 353 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 AAGGCTGCTTCTTAAATAAGT 0.622000 3 21 0 0 1 0 0 RRP15 51018 broad.mit.edu 37 1 218504419 218504419 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:218504419G>A ENST00000366932.3 + 5 865 c.835G>A c.(835-837)Gac>Aac p.D279N NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 279 mitochondrion|nucleolus protein binding p.D279N(1) ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) ATCTGCAAGTGACTCTGATAC 0.393000 5 30 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905704 15905704 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:15905704C>T ENST00000308940.8 + 1 944 c.846C>T c.(844-846)ctC>ctT p.L282L NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 ACACGGTCCTCACACCCTTCC 0.537000 19 27 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262847 45262847 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:45262847G>A ENST00000303230.4 - 8 1906 c.1849C>T c.(1849-1851)Cag>Tag p.Q617* NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 617 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCGTTCTCCTGATTGTTGAAA 0.418000 9 29 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24190908 24190908 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:24190908G>C ENST00000379177.1 + 5 476 c.49G>C c.(49-51)Gat>Cat p.D17H ZFX_ENST00000338565.3_Missense_Mutation_p.D17H|ZFX_ENST00000379188.3_Missense_Mutation_p.D17H|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D17H|ZFX_ENST00000540034.1_Missense_Mutation_p.D17H NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CTCATTTTTTGATGCAACAGG 0.383000 18 30 0 0 1 0 0 ROGDI 79641 broad.mit.edu 37 16 4848114 4848114 + Silent SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:4848114G>T ENST00000322048.7 - 8 981 c.603C>A c.(601-603)ctC>ctA p.L201L ROGDI_ENST00000586336.1_5'UTR NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 201 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 GGTACACCGTGAGGCAGAGCT 0.667000 11 14 0.00244969 0.00250309 1 1 0 EFR3A 23167 broad.mit.edu 37 8 133014902 133014902 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:133014902G>A ENST00000254624.5 + 21 2484 c.2259G>A c.(2257-2259)gaG>gaA p.E753E EFR3A_ENST00000334503.4_Silent_p.E753E|EFR3A_ENST00000519656.1_Silent_p.E717E|EFR3A_ENST00000521940.1_3'UTR NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 753 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTGTGATAGAGAAATTTCAGA 0.373000 21 22 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65541035 65541035 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:65541035C>T ENST00000356388.4 - 6 1046 c.857G>A c.(856-858)aGc>aAc p.S286N SPRED2_ENST00000443619.2_Missense_Mutation_p.S283N NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 286 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CTTGATCACGCTGCCCCCGCG 0.657000 18 47 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50383551 50383551 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:50383551G>A ENST00000221543.5 + 4 510 c.211G>A c.(211-213)Gac>Aac p.D71N TBC1D17_ENST00000535102.2_Missense_Mutation_p.D38N|TBC1D17_ENST00000598789.1_3'UTR NM_024682.2 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 71 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CAGTGGGGGTGACTCATGTGC 0.557000 14 51 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528344 6528344 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:6528344G>T ENST00000377748.1 - 21 3280 c.2783C>A c.(2782-2784)tCc>tAc p.S928Y PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S930Y|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S888Y|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.S907Y|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S920Y|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S851Y NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 907 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGTGGAGGGGAAGGAACTCG 0.672000 5 13 0.014758 0.014877 1 1 0 PIGS 94005 broad.mit.edu 37 17 26890514 26890514 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:26890514G>C ENST00000308360.7 - 5 778 c.403C>G c.(403-405)Cag>Gag p.Q135E PIGS_ENST00000543734.1_Missense_Mutation_p.Q74E|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.Q127E NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 135 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GCTTGTTCCTGAGGCTCATCT 0.527000 12 42 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97311456 97311456 + Splice_Site SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:97311456G>A ENST00000389672.5 + 12 2425 c.2387G>A c.(2386-2388)aGa>aAa p.R796K EPHA6_ENST00000442602.2_Splice_Site_p.R162K|EPHA6_ENST00000514100.1_Splice_Site_p.R188K|EPHA6_ENST00000502694.1_Splice_Site_p.R188K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 701 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTCTTAAAAGGATCCTTCCCG 0.433000 8 27 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28000567 28000567 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:28000567G>C ENST00000354638.3 - 24 2639 c.2484C>G c.(2482-2484)ctC>ctG p.L828L OCA2_ENST00000353809.5_Silent_p.L804L NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 828 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAGCCACAAGGAGATAACACA 0.418000 Oculocutaneous Albinism 9 13 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47763029 47763029 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:47763029C>T ENST00000489301.2 + 4 571 c.486C>T c.(484-486)ttC>ttT p.F162F OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.F162F|OPN5_ENST00000371211.2_Silent_p.F162F Q6U736 OPN5_HUMAN opsin 5 162 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 ATGCTTCCTTCTGGACCACCA 0.597000 5 14 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5790035 5790035 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:5790035C>G ENST00000328090.5 + 15 5276 c.4651C>G c.(4651-4653)Cca>Gca p.P1551A NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1551 ATCAGGAAATCCATTGCAGCC 0.423000 12 45 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261131 160261131 + Silent SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:160261131G>T ENST00000241704.7 - 31 3643 c.3414C>A c.(3412-3414)gcC>gcA p.A1138A COPA_ENST00000368069.3_Silent_p.A1147A NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1138 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTACCTGTTGGGCCACCTCAG 0.527000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 76 0.010729 0.0108447 1 1 0 SEMG1 6406 broad.mit.edu 37 20 43837174 43837174 + Silent SNP T T C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:43837174T>C ENST00000372781.3 + 2 1293 c.1236T>C c.(1234-1236)aaT>aaC p.N412N SEMG1_ENST00000244069.6_Silent_p.N352N NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AATCTACAAATAGAGAACAAG 0.433000 44 45 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152690738 152690738 + Silent SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:152690738G>T ENST00000367255.5 - 60 10120 c.9519C>A c.(9517-9519)atC>atA p.I3173I SYNE1_ENST00000448038.1_Silent_p.I3180I|SYNE1_ENST00000423061.1_Silent_p.I3180I|SYNE1_ENST00000265368.4_Silent_p.I3173I|SYNE1_ENST00000341594.5_Silent_p.I3212I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3173 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTTCATTTGGATCTTTAGAT 0.433000 HNSCC(10;0.0054) 5 36 1.23904e-05 1.28354e-05 1 1 0 RAB3A 5864 broad.mit.edu 37 19 18308281 18308281 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:18308281C>T ENST00000222256.4 - 5 840 c.662G>A c.(661-663)tGa>tAa p.*221* RAB3A_ENST00000464076.3_Silent_p.*126* NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 0 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 GGATGGCTCTCAGCAGGCGCA 0.682000 4 16 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:17375399G>C ENST00000242057.4 + 9 1792 c.1149G>C c.(1147-1149)caG>caC p.Q383H AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 383 PAC. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.Q383H(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTGTAACTCAGAGACCACTAA 0.348000 11 40 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345342 20345342 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:20345342C>G ENST00000298642.2 + 1 952 c.916C>G c.(916-918)Cta>Gta p.L306V NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAATAGGTTTCTAAATTTTAA 0.343000 7 34 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057727 27057727 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:27057727C>G ENST00000324856.7 + 3 1806 c.1435C>G c.(1435-1437)Cag>Gag p.Q479E ARID1A_ENST00000374152.2_Missense_Mutation_p.Q96E|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q479E NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 479 Poly-Gln. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q479*(2) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCTCACCCTCAGCAGCAGCA 0.557000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 75 292 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99019824 99019824 + Missense_Mutation SNP C C T rs139350531 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:99019824C>T ENST00000299157.4 - 3 1391 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 335 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 ATATCCAGTTCATTTTGCATC 0.294000 7 17 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113379739 113379739 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:113379739C>T ENST00000316407.4 - 7 1200 c.790G>A c.(790-792)Gag>Aag p.E264K KIAA2018_ENST00000478658.1_Missense_Mutation_p.E264K|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 264 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGGTGAGGCTCAGATTCAATT 0.408000 7 42 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29663812 29663812 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:29663812C>T ENST00000358273.4 + 42 6690 c.6307C>T c.(6307-6309)Ctc>Ttc p.L2103F NF1_ENST00000356175.3_Missense_Mutation_p.L2082F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2103 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTCCCTACCTCTTCCACGT 0.443000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 43 54 0 0 1 0 0 LRRC2 79442 broad.mit.edu 37 3 46586635 46586635 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:46586635C>G ENST00000395905.3 - 3 626 c.234G>C c.(232-234)aaG>aaC p.K78N LRRC2_ENST00000296144.3_Missense_Mutation_p.K78N NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 78 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) TCCTTTCAATCTTGTCCAGAA 0.532000 37 148 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69581653 69581653 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:69581653G>T ENST00000357308.4 - 8 831 c.653C>A c.(652-654)tCt>tAt p.S218Y GFPT1_ENST00000361060.5_Missense_Mutation_p.S218Y NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 218 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GTGATCAGTAGAAAGTTTATG 0.343000 15 54 2.23348e-06 2.3461e-06 1 1 0 OR2J3 442186 broad.mit.edu 37 6 29080224 29080224 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:29080224C>T ENST00000377169.1 + 1 557 c.557C>T c.(556-558)gCa>gTa p.A186V NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 GAAGTTCCAGCACTTCTGCGA 0.453000 43 42 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33267615 33267615 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:33267615G>A ENST00000314144.5 - 8 1026 c.911C>T c.(910-912)tCt>tTt p.S304F CCT6B_ENST00000436961.3_Missense_Mutation_p.S259F|CCT6B_ENST00000421975.3_Missense_Mutation_p.S267F NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 304 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TTTTGCAAGAGAATCTAAGGA 0.308000 12 24 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1940219 1940219 + Silent SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:1940219G>T ENST00000543818.1 + 4 1028 c.186G>T c.(184-186)gtG>gtT p.V62V CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.V62V|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Silent_p.V62V|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 62 LRRNT. integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TCACCACGGTGCCCCCAGACG 0.642000 17 53 2.94398e-08 3.12746e-08 1 1 0 TRPM7 54822 broad.mit.edu 37 15 50925154 50925154 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:50925154G>T ENST00000313478.7 - 9 1324 c.1043C>A c.(1042-1044)tCc>tAc p.S348Y TRPM7_ENST00000560955.1_Missense_Mutation_p.S348Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 348 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTTGATAGTGGAAATAATATC 0.338000 13 30 0.0202918 0.0204006 1 1 0 C9orf96 169436 broad.mit.edu 37 9 136262346 136262346 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:136262346C>G ENST00000371957.3 + 10 1029 c.922C>G c.(922-924)Ctg>Gtg p.L308V C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.4 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 308 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTGCGTCTCTCTGACCCTGCA 0.592000 3 5 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179095723 179095723 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:179095723C>T ENST00000502732.1 - 4 679 c.476G>A c.(475-477)aGc>aAc p.S159N ABL2_ENST00000512653.1_Missense_Mutation_p.S144N|ABL2_ENST00000392043.3_Missense_Mutation_p.S138N|ABL2_ENST00000367623.4_Missense_Mutation_p.S138N|ABL2_ENST00000507173.1_Missense_Mutation_p.S138N|ABL2_ENST00000511413.1_Missense_Mutation_p.S159N|ABL2_ENST00000408940.3_Missense_Mutation_p.S123N|ABL2_ENST00000504405.1_Missense_Mutation_p.S123N|ABL2_ENST00000344730.3_Missense_Mutation_p.S144N NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 159 SH3. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GATGTAGTTGCTTGGCACCCA 0.502000 T ETV6 AML 12 53 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 15989676 15989676 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:15989676G>A ENST00000221700.6 - 13 1563 c.1468C>T c.(1468-1470)Cgc>Tgc p.R490C NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGCAGGACGCGGAAGCGCAGC 0.672000 21 22 0 0 1 0 0 GUSBP11 91316 broad.mit.edu 37 22 23980979 23980979 + RNA SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr22:23980979C>T ENST00000455485.1 - 0 3510 AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA TCTCCACGCTCTGGGTGATGA 0.567000 15 33 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15469785 15469785 + Nonsense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrY:15469785G>T ENST00000331397.4 - 13 2257 c.1250C>A c.(1249-1251)tCg>tAg p.S417* UTY_ENST00000545955.1_Nonsense_Mutation_p.S492*|UTY_ENST00000382896.4_Nonsense_Mutation_p.S462*|UTY_ENST00000538878.1_Nonsense_Mutation_p.S384*|UTY_ENST00000329134.5_Nonsense_Mutation_p.S417*|UTY_ENST00000540140.1_Nonsense_Mutation_p.S414*|UTY_ENST00000362096.4_Nonsense_Mutation_p.S417*|UTY_ENST00000537580.1_Nonsense_Mutation_p.S462* NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 417 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 CAAACACAACGAATAAACTTG 0.343000 15 1 2.35188e-11 2.53435e-11 1 1 0 BSN 8927 broad.mit.edu 37 3 49689071 49689071 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:49689071G>C ENST00000296452.4 + 5 2196 c.2082G>C c.(2080-2082)caG>caC p.Q694H NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 694 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTAGCTCCCAGAGTGAGATCA 0.607000 47 30 0 0 1 0 0 PLBD2 196463 broad.mit.edu 37 12 113823088 113823088 + Splice_Site SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:113823088C>T ENST00000280800.3 + 9 1317 c.1286C>T c.(1285-1287)cCg>cTg p.P429L PLBD2_ENST00000545182.2_Splice_Site_p.P397L NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 429 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TACAACATACCGTGCGTGCCT 0.577000 18 19 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32460539 32460539 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:32460539C>T ENST00000404025.2 - 9 3201 c.2713G>A c.(2713-2715)Gag>Aag p.E905K NLRC4_ENST00000402280.1_Missense_Mutation_p.E905K|NLRC4_ENST00000342905.6_Missense_Mutation_p.E240K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E905K Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 905 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGTGGGACCTCCTCCAAATGT 0.498000 10 128 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 156 0 0 1 0 0 GPR31 2853 broad.mit.edu 37 6 167570862 167570862 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:167570862G>C ENST00000366834.1 - 1 955 c.458C>G c.(457-459)tCt>tGt p.S153C NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 153 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GGCGGCCTCAGAGATGAGCAA 0.627000 32 44 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37660402 37660402 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr21:37660402C>G ENST00000399151.3 + 33 6336 c.6251C>G c.(6250-6252)tCt>tGt p.S2084C NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2084 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTAAGAATATCTCCTCAACAT 0.383000 15 62 0 0 1 0 0 PTP4A2 8073 broad.mit.edu 37 1 32374486 32374486 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:32374486G>A ENST00000344035.6 - 6 1464 c.471C>T c.(469-471)ttC>ttT p.F157F RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000457805.2_Silent_p.F126F|PTP4A2_ENST00000602725.1_Silent_p.F157F|PTP4A2_ENST00000356536.3_3'UTR|PTP4A2_ENST00000470404.1_3'UTR NM_080391.3 NP_536316.1 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 157 early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) TGGTATCTCTGAAGCGTAATC 0.413000 37 134 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719118 52719118 + Silent SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:52719118G>T ENST00000322088.6 + 7 952 c.894G>T c.(892-894)gtG>gtT p.V298V PPP2R1A_ENST00000444322.2_Silent_p.V243V|PPP2R1A_ENST00000462990.1_Silent_p.V119V NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 298 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.V298V(1) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) AGGCCGAGGTGAGGGCCGCAG 0.592000 Mis clear cell ovarian carcinoma 8 55 0.00448238 0.00456764 1 1 0 MYO1A 4640 broad.mit.edu 37 12 57432242 57432242 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:57432242C>A ENST00000442789.2 - 18 2001 c.1714G>T c.(1714-1716)Gcc>Tcc p.A572S MYO1A_ENST00000544473.1_Missense_Mutation_p.A410S|MYO1A_ENST00000300119.3_Missense_Mutation_p.A572S|MYO1A_ENST00000476795.1_5'UTR NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 572 Actin-binding (Potential).|Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 ATGAGGATGGCCACAGAACTC 0.557000 12 16 0.000978159 0.00100221 1 1 0 PTPN12 5782 broad.mit.edu 37 7 77256769 77256769 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:77256769C>T ENST00000248594.6 + 13 2045 c.1773C>T c.(1771-1773)ttC>ttT p.F591F PTPN12_ENST00000435495.2_Silent_p.F461F|PTPN12_ENST00000415482.2_Silent_p.F472F NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 591 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CACCACTCTTCAGAACACCCC 0.388000 23 184 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47491290 47491290 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:47491290G>C ENST00000404338.3 + 3 3871 c.3871G>C c.(3871-3873)Gag>Cag p.E1291Q NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1291 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAACAAGTCTGAGATGGAGAG 0.567000 20 15 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33642136 33642136 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:33642136G>C ENST00000361680.2 + 6 807 c.729G>C c.(727-729)caG>caC p.Q243H WDR88_ENST00000355868.3_Missense_Mutation_p.Q243H Q6ZMY6 WDR88_HUMAN WD repeat domain 88 243 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) CCGACAGCCAGAGGGTGGCTT 0.562000 4 18 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56749136 56749136 + Splice_Site SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:56749136C>T ENST00000314128.4 - 6 495 c.e6-1 STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TTACCAGCTTCTGCAGAGGGG 0.517000 39 107 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79569372 79569372 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:79569372G>A ENST00000372391.2 - 24 4585 c.4580C>T c.(4579-4581)gCc>gTc p.A1527V DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.A1187V NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1527 PDZ 4. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTCCACCTCGGCCACAAACAC 0.602000 31 121 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73836859 73836859 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:73836859G>T ENST00000207549.4 - 8 1046 c.667C>A c.(667-669)Ctg>Atg p.L223M UNC13D_ENST00000412096.2_Missense_Mutation_p.L223M|UNC13D_ENST00000587504.1_5'UTR NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 223 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCCCATGCAGATCCGTGAGC 0.602000 Familial Hemophagocytic Lymphohistiocytosis 17 95 1.37522e-17 1.50792e-17 1 1 0 RPL26L1 51121 broad.mit.edu 37 5 172386879 172386879 + Translation_Start_Site SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:172386879G>A ENST00000521476.1 + 2 127 c.3G>A c.(1-3)atG>atA p.M1I RPL26L1_ENST00000265100.2_Start_Codon_SNP_p.M1I|RPL26L1_ENST00000519974.1_Start_Codon_SNP_p.M1I|RPL26L1_ENST00000519239.1_Start_Codon_SNP_p.M1I Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 1 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGTCACCATGAAGTTCAATC 0.562000 OREG0017052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 40 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103564016 103564016 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:103564016G>C ENST00000285402.3 + 1 217 c.61G>C c.(61-63)Gaa>Caa p.E21Q NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 21 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) GGTGGACAGAGAACTAAGGCA 0.478000 17 69 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22444445 22444445 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:22444445G>A ENST00000334304.5 - 7 1017 c.748C>T c.(748-750)Cat>Tat p.H250Y GPR125_ENST00000508133.1_Missense_Mutation_p.H24Y|GPR125_ENST00000502482.1_Missense_Mutation_p.H250Y|GPR125_ENST00000282943.5_5'UTR NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 250 Ig-like. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ACTTGGCGATGAGATGGAGTC 0.403000 29 36 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45107563 45107563 + Silent SNP G G T rs149494438 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr21:45107563G>T ENST00000340648.4 + 13 1425 c.1308G>T c.(1306-1308)ctG>ctT p.L436L NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 436 L -> P (in Ref. 1; BAA11496 and 3; AAH28386). rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding p.L436L(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CCTCTGGGCTGAAAGCCCTGA 0.657000 18 14 9.16793e-09 9.76697e-09 1 1 0 PSMC6 5706 broad.mit.edu 37 14 53173937 53173937 + Translation_Start_Site SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:53173937C>A ENST00000606149.1 + 0 16 PSMC6_ENST00000445930.2_Silent_p.I14I NM_002806.3 NP_002797.3 P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) GGCTTCTCATCATGGCGGACC 0.622000 8 20 6.40141e-05 6.57679e-05 1 1 0 MAP3K4 4216 broad.mit.edu 37 6 161513086 161513086 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:161513086G>A ENST00000392142.4 + 13 3328 c.3180G>A c.(3178-3180)caG>caA p.Q1060Q MAP3K4_ENST00000366919.2_Silent_p.Q1060Q|MAP3K4_ENST00000366920.2_Silent_p.Q1060Q|MAP3K4_ENST00000348824.7_Silent_p.Q1060Q NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1060 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGTTTAGACAGAAGATAGGAG 0.353000 30 143 0 0 1 0 0 RAN 5901 broad.mit.edu 37 12 131359242 131359242 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:131359242G>A ENST00000543796.1 + 5 657 c.399G>A c.(397-399)gcG>gcA p.A133A RAN_ENST00000392369.2_Silent_p.A133A|RAN_ENST00000541630.1_Silent_p.A45A|RAN_ENST00000392367.3_Silent_p.A150A|RAN_ENST00000254675.3_Silent_p.A45A P62826 RAN_HUMAN RAN, member RAS oncogene family 133 androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle cytosol|melanosome|nuclear pore|nucleoplasm androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06) OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40) AAGTGAAGGCGAAATCCATTG 0.398000 31 29 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63021642 63021642 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:63021642G>C ENST00000251157.5 - 21 2483 c.2450C>G c.(2449-2451)tCt>tGt p.S817C DOCK7_ENST00000340370.5_Missense_Mutation_p.S817C NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 817 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GGCTTCAAAAGATGCTTGACC 0.338000 24 73 0 0 1 0 0 DYRK2 8445 broad.mit.edu 37 12 68052236 68052236 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:68052236G>C ENST00000344096.3 + 3 1962 c.1549G>C c.(1549-1551)Gag>Cag p.E517Q DYRK2_ENST00000393555.3_Missense_Mutation_p.E444Q NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 517 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) ACAGTGTTTAGAGTGGGATCC 0.602000 13 56 0 0 1 0 0 TMEM55A 55529 broad.mit.edu 37 8 92033578 92033578 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:92033578G>A ENST00000285419.3 - 2 475 c.161C>T c.(160-162)cCa>cTa p.P54L NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 54 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) GTTTATTACTGGAATACCACT 0.448000 19 74 0 0 1 0 0 THRSP 7069 broad.mit.edu 37 11 77775222 77775222 + Missense_Mutation SNP G G A rs145822616 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:77775222G>A ENST00000281030.2 + 1 316 c.295G>A c.(295-297)Gag>Aag p.E99K NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron NM_003251.3 NP_003242.1 Q92748 THRSP_HUMAN thyroid hormone responsive 99 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) AGAGGAAGTCGAGGACGAGAG 0.607000 13 22 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36768326 36768326 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:36768326C>T ENST00000416007.4 - 9 1085 c.998G>A c.(997-999)aGa>aAa p.R333K MBIP_ENST00000318473.7_Missense_Mutation_p.R332K|MBIP_ENST00000359527.7_3'UTR NM_001144891.1|NM_016586.2 NP_001138363.1|NP_057670.2 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 333 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) TTCTGCTTCTCTTGATTTTCT 0.383000 34 102 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9459519 9459519 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:9459519G>A ENST00000379719.3 + 21 2629 c.2487G>A c.(2485-2487)ttG>ttA p.L829L NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 829 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ACTGTTTCTTGGGGTAAGTGA 0.289000 12 17 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15516384 15516384 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:15516384G>C ENST00000424120.1 + 9 1026 c.772G>C c.(772-774)Gat>Cat p.D258H CC2D2A_ENST00000503292.1_Missense_Mutation_p.D258H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D258H|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D209H Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 258 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 ATTGGGCTTAGATCACGTGGC 0.418000 23 27 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135789355 135789355 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:135789355G>C ENST00000264977.3 + 6 3122 c.2505G>C c.(2503-2505)ctG>ctC p.L835L PPP2R3A_ENST00000334546.2_Silent_p.L214L|PPP2R3A_ENST00000490467.1_Silent_p.L99L|PPP2R3A_ENST00000492624.2_Silent_p.L99L NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 835 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCACGTTCCTGAAAGATGCTC 0.383000 15 20 0 0 1 0 0 PUS7 54517 broad.mit.edu 37 7 105148663 105148663 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:105148663C>G ENST00000356362.2 - 2 511 c.297G>C c.(295-297)gaG>gaC p.E99D PUS7_ENST00000469408.1_Missense_Mutation_p.E99D NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 99 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 CTGCAAAACTCTCTGATTCCT 0.468000 26 131 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474489 140474489 + Nonsense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:140474489G>T ENST00000194155.4 + 1 263 c.115G>T c.(115-117)Gag>Tag p.E39* NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 39 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGTGGCCGAGGAAACGGA 0.537000 12 16 1.08611e-07 1.14407e-07 1 1 0 CP 1356 broad.mit.edu 37 3 148925199 148925199 + Silent SNP C C T rs150470431 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:148925199C>T ENST00000264613.6 - 5 1249 c.987G>A c.(985-987)caG>caA p.Q329Q NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 329 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CTCCAGGGTTCTGGGCCACCA 0.448000 11 45 0 0 1 0 0 XKRX 402415 broad.mit.edu 37 X 100178035 100178035 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:100178035C>T ENST00000328526.5 - 2 955 c.390G>A c.(388-390)atG>atA p.M130I XKRX_ENST00000468904.1_Intron|XKRX_ENST00000372956.2_Missense_Mutation_p.M117I NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 117 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 GGTACTTAATCATGGCCTCCA 0.478000 25 20 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697420 153697420 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:153697420G>A ENST00000369682.3 + 26 4631 c.4456G>A c.(4456-4458)Gag>Aag p.E1486K NM_017514.3 NP_059984.3 P51805 PLXA3_HUMAN plexin A3 1486 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 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) CGTGTGTCCGGAGAACGAGGG 0.622000 13 20 0 0 1 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67198961 67198961 + Silent SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:67198961C>G ENST00000312629.5 + 5 477 c.432C>G c.(430-432)ctC>ctG p.L144L RPS6KB2_ENST00000539188.1_Silent_p.L144L|RPS6KB2_ENST00000524814.1_Intron|AP003419.16_ENST00000535922.1_RNA NM_003952.2 NP_003943.2 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 2 144 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GTGGCAAACTCTACCTCATCC 0.607000 6 28 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117634555 117634555 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:117634555C>G ENST00000369466.4 + 17 2832 c.2788C>G c.(2788-2790)Ctt>Gtt p.L930V NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TTGCTGTCATCTTTCTTTACT 0.532000 24 83 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100917194 100917194 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:100917194G>A ENST00000393437.3 - 4 1616 c.977C>T c.(976-978)tCt>tTt p.S326F LONRF2_ENST00000409647.1_Missense_Mutation_p.S83F NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 326 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TTGGATGGAAGATGTTAAATT 0.408000 12 19 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14031702 14031702 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:14031702G>C ENST00000311895.7 + 9 1900 c.1891G>C c.(1891-1893)Gaa>Caa p.E631Q NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 631 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 GGAAGCTTTTGAAAAACTCAT 0.403000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 14 44 0 0 1 0 0 FIS1 51024 broad.mit.edu 37 7 100887357 100887357 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:100887357C>T ENST00000223136.4 - 2 189 c.109G>A c.(109-111)Gag>Aag p.E37K FIS1_ENST00000442303.1_Intron|FIS1_ENST00000474120.1_Intron NM_016068.2 NP_057152.2 Q9Y3D6 FIS1_HUMAN fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 37 apoptosis|mitochondrial fission|peroxisome fission integral to mitochondrial outer membrane|integral to peroxisomal membrane protein binding kidney(1)|large_intestine(2)|lung(1) 4 Lung NSC(181;0.168)|all_lung(186;0.215) CAGGCGTACTCAAACTGCGTG 0.522000 OREG0018218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 54 0 0 1 0 0 C3orf17 25871 broad.mit.edu 37 3 112724785 112724785 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:112724785G>C ENST00000314400.5 - 9 1493 c.1302C>G c.(1300-1302)atC>atG p.I434M C3orf17_ENST00000393857.2_Missense_Mutation_p.I298M|C3orf17_ENST00000383675.2_Missense_Mutation_p.I364M NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 434 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTGAAGTTTTGATACCTGAGC 0.393000 9 31 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773558 35773558 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:35773558C>T ENST00000360215.1 + 1 488 c.111C>T c.(109-111)tcC>tcT p.S37S LHFPL5_ENST00000373853.1_Silent_p.S37S NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 37 integral to membrane p.S37S(1) endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 TCTGCTTCTCCGTACTGGTCA 0.602000 27 97 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178414665 178414665 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:178414665G>A ENST00000448150.3 + 9 2259 c.1441G>A c.(1441-1443)Gac>Aac p.D481N RASAL2_ENST00000367649.3_Missense_Mutation_p.D499N|RASAL2_ENST00000462775.1_Missense_Mutation_p.D351N NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 351 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TTTTCTGACTGACTTGGTGAT 0.388000 31 88 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268568 21268568 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:21268568G>A ENST00000602326.1 - 12 1512 c.929C>T c.(928-930)tCa>tTa p.S310L EIF4G3_ENST00000356916.3_Missense_Mutation_p.S315L|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S304L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S304L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S310L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S304L|EIF4G3_ENST00000536266.1_5'UTR NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 304 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TCTTGGGGATGAGAGTTCACA 0.428000 45 144 0 0 1 0 0 GRWD1 83743 broad.mit.edu 37 19 48953614 48953614 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:48953614G>A ENST00000253237.5 + 4 746 c.513G>A c.(511-513)gaG>gaA p.E171E NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 171 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) TGTGGTCAGAGAAGGGCCAGG 0.642000 10 25 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99640542 99640542 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:99640542G>A ENST00000345514.2 - 3 2684 c.2418C>T c.(2416-2418)caC>caT p.H806H BCL11B_ENST00000357195.3_Silent_p.H877H|BCL11B_ENST00000443726.2_Silent_p.H683H NM_001282238.1|NM_022898.1 NP_001269167.1|NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 877 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) AGTGCTCGCCGTGCCACTTTT 0.617000 T TLX3 T-ALL 11 16 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176304654 176304654 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:176304654G>A ENST00000329542.4 + 10 1859 c.1585G>A c.(1585-1587)Gac>Aac p.D529N UNC5A_ENST00000261961.3_Missense_Mutation_p.D489N NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 529 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCAGCCCTGACAGCTGGAG 0.642000 7 16 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62688060 62688060 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:62688060G>C ENST00000281156.4 - 4 672 c.394C>G c.(394-396)Cat>Gat p.H132D NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 132 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) ATTAATACATGAAGCTCATCA 0.378000 32 40 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846815 47846815 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:47846815G>A ENST00000339488.4 - 3 1798 c.1765C>T c.(1765-1767)Cga>Tga p.R589* NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 589 integral to membrane hedgehog receptor activity p.R589*(1) ATATCATTTCGAAAATGCTGG 0.423000 21 14 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74705724 74705724 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:74705724C>A ENST00000294064.4 + 2 1192 c.265C>A c.(265-267)Ctg>Atg p.L89M NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Intron|NEU3_ENST00000531619.1_Missense_Mutation_p.L89M|NEU3_ENST00000531509.1_Missense_Mutation_p.L89M|NEU3_ENST00000534628.1_Missense_Mutation_p.L89M|NEU3_ENST00000544263.1_Missense_Mutation_p.L56M|NEU3_ENST00000532963.1_Intron NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 89 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 TGCTCTCCACCTGGTGCTGAG 0.562000 12 28 2.80697e-09 2.9989e-09 1 1 0 PDE1A 5136 broad.mit.edu 37 2 183129137 183129137 + Nonsense_Mutation SNP T T A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:183129137T>A ENST00000435564.1 - 2 306 c.106A>T c.(106-108)Aga>Tga p.R36* PDE1A_ENST00000410103.1_Nonsense_Mutation_p.R36*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.R36*|PDE1A_ENST00000536095.1_De_novo_Start_OutOfFrame|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.R20*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.R20*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.R36*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.R36* NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 36 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACCAAGCATCTTAGTCTATTT 0.348000 27 19 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667153 157667153 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:157667153C>T ENST00000368184.3 - 6 912 c.621G>A c.(619-621)atG>atA p.M207I FCRL3_ENST00000368186.5_Missense_Mutation_p.M207I|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 207 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AGGTCAGGGTCATGGGACTCC 0.547000 16 37 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168098343 168098343 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:168098343G>C ENST00000409195.1 + 8 1188 c.1099G>C c.(1099-1101)Gag>Cag p.E367Q XIRP2_ENST00000409043.1_Missense_Mutation_p.E367Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.E145Q|XIRP2_ENST00000409605.1_Missense_Mutation_p.E145Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.E367Q|XIRP2_ENST00000409756.2_Missense_Mutation_p.E367Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.E400Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.E400Q NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 192 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTTGTTAAAAGAGCAGTTTGA 0.373000 21 64 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123190075 123190075 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:123190075C>T ENST00000371160.1 + 14 1584 c.1294C>T c.(1294-1296)Ctc>Ttc p.L432F STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L432F|STAG2_ENST00000371157.3_Missense_Mutation_p.L432F|STAG2_ENST00000371144.3_Missense_Mutation_p.L432F|STAG2_ENST00000371145.3_Missense_Mutation_p.L432F|STAG2_ENST00000354548.5_Missense_Mutation_p.L363F NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 432 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TGGAGAATTTCTCTACAAAAA 0.328000 24 1 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 151 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94805532 94805532 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:94805532C>T ENST00000397809.5 - 4 814 c.265G>A c.(265-267)Gaa>Aaa p.E89K CCDC41_ENST00000547575.1_Missense_Mutation_p.E89K|CCDC41_ENST00000339839.5_Missense_Mutation_p.E89K|CCDC41_ENST00000397807.2_Missense_Mutation_p.E56K NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 81 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 CTTAGTTCTTCAAGCAGGAGC 0.333000 10 55 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94022349 94022349 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:94022349G>A ENST00000265140.5 + 16 2466 c.2047G>A c.(2047-2049)Gag>Aag p.E683K NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 683 p.E47Q(1)|p.E683Q(1) NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) GTTTGTTGCAGAGGCAGTCTT 0.393000 35 91 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99020043 99020043 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:99020043C>T ENST00000299157.4 - 3 1172 c.799G>A c.(799-801)Gaa>Aaa p.E267K IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 271 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TTGCATTCTTCAACTTTGGGT 0.388000 19 76 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49323684 49323684 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:49323684C>G ENST00000351842.4 - 15 1914 c.1906G>C c.(1906-1908)Gat>Cat p.D636H USP4_ENST00000265560.4_Missense_Mutation_p.D683H NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 683 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CCTGGCTCATCTTCCCCACTG 0.468000 14 64 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19512471 19512471 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:19512471C>T ENST00000538714.1 + 24 3154 c.3150C>T c.(3148-3150)ttC>ttT p.F1050F PLEKHA5_ENST00000424268.1_Silent_p.F981F|PLEKHA5_ENST00000299275.6_Silent_p.F992F|PLEKHA5_ENST00000543806.1_Silent_p.F974F|PLEKHA5_ENST00000359180.3_Silent_p.F936F|PLEKHA5_ENST00000539256.1_Silent_p.F750F|PLEKHA5_ENST00000429027.2_Silent_p.F1158F|PLEKHA5_ENST00000355397.3_Silent_p.F1050F|PLEKHA5_ENST00000317589.4_Silent_p.F1055F NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 992 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATGTGGACTTCAGCAAAGAGG 0.358000 16 35 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830899 38830899 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:38830899C>T ENST00000436693.2 - 2 315 c.196G>A c.(196-198)Gag>Aag p.E66K TLR6_ENST00000381950.1_Missense_Mutation_p.E66K NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 66 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACCTGAAGCTCAGCGATGTAG 0.383000 14 77 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89299058 89299058 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:89299058G>A ENST00000370521.3 + 22 3241 c.2882G>A c.(2881-2883)cGa>cAa p.R961Q PKN2_ENST00000370513.5_Missense_Mutation_p.R913Q|PKN2_ENST00000495119.1_3'UTR|PKN2_ENST00000544045.1_Missense_Mutation_p.R635Q|PKN2_ENST00000370505.3_Missense_Mutation_p.R804Q NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 961 AGC-kinase C-terminal. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) ACTCCACCTCGAGAACCAAGG 0.408000 27 36 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520688 23520688 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:23520688C>G ENST00000374619.1 - 1 534 c.25G>C c.(25-27)Gaa>Caa p.E9Q HTR1D_ENST00000314113.3_Missense_Mutation_p.E9Q NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 9 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GGAAGGCCTTCTGCTGACTGG 0.567000 15 67 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62784963 62784963 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:62784963G>A ENST00000280377.5 + 16 2045 c.1987G>A c.(1987-1989)Gat>Aat p.D663N USP15_ENST00000393654.3_Missense_Mutation_p.D638N|USP15_ENST00000353364.3_Missense_Mutation_p.D634N NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 663 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TGAGCCAGATGATGAATCCAG 0.323000 25 27 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99019947 99019947 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:99019947C>G ENST00000299157.4 - 3 1268 c.895G>C c.(895-897)Gac>Cac p.D299H IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 300 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 ATAGTCAAGTCTTCCATTTTC 0.363000 10 30 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50381800 50381800 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:50381800G>T ENST00000221543.5 + 3 465 c.166G>T c.(166-168)Gat>Tat p.D56Y TBC1D17_ENST00000535102.2_Missense_Mutation_p.D23Y|TBC1D17_ENST00000598789.1_3'UTR NM_024682.2 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 56 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GGAGGCTGGAGATTCCACCCA 0.542000 11 53 2.80697e-09 2.9989e-09 1 1 0 TCEB3C 162699 broad.mit.edu 37 18 44555036 44555036 + Nonsense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:44555036C>T ENST00000330682.2 - 1 1413 c.1178G>A c.(1177-1179)tGg>tAg p.W393* KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 393 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 ATGAATCCTCCATAATTCATC 0.572000 9 425 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818850 77818850 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:77818850G>A ENST00000334306.2 - 1 152 c.153C>T c.(151-153)ttC>ttT p.F51F NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 51 CGAAGCCCTTGAAGAGCTCGC 0.657000 20 16 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057775 27057775 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:27057775C>T ENST00000324856.7 + 3 1854 c.1483C>T c.(1483-1485)Cat>Tat p.H495Y ARID1A_ENST00000374152.2_Missense_Mutation_p.H112Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.H495Y NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 495 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCAGACCCCTCATGCCCAACC 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 80 310 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105732803 105732803 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:105732803G>A ENST00000393127.2 + 5 987 c.541G>A c.(541-543)Gtc>Atc p.V181I GRIA4_ENST00000428631.2_Missense_Mutation_p.V181I|GRIA4_ENST00000282499.5_Missense_Mutation_p.V181I|GRIA4_ENST00000393125.2_Missense_Mutation_p.V181I|GRIA4_ENST00000530497.1_Missense_Mutation_p.V181I|GRIA4_ENST00000525187.1_Missense_Mutation_p.V181I NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 181 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TGGTTGGCATGTCAGCGCTAT 0.363000 24 36 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577079 7577079 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:7577079C>G ENST00000420246.2 - 8 991 c.859G>C c.(859-861)Gag>Cag p.E287Q TP53_ENST00000455263.2_Missense_Mutation_p.E287Q|TP53_ENST00000359597.4_Missense_Mutation_p.E287Q|TP53_ENST00000445888.2_Missense_Mutation_p.E287Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E287Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 287 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGAGATTCTCTTCCTCTGTG 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 2 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89896183 89896183 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:89896183C>T ENST00000534061.1 + 9 1286 c.1056C>T c.(1054-1056)atC>atT p.I352I NAALAD2_ENST00000321955.4_Silent_p.I319I|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 352 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTGGAACTATCAGAGGATCTG 0.269000 16 35 0 0 1 0 0 CA12 771 broad.mit.edu 37 15 63638903 63638903 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:63638903C>G ENST00000178638.3 - 3 552 c.112G>C c.(112-114)Gat>Cat p.D38H CA12_ENST00000422263.2_Intron|CA12_ENST00000344366.3_Missense_Mutation_p.D38H NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 38 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) TTCTCCCCATCAGGACCTGGA 0.483000 11 52 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28581615 28581615 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:28581615G>A ENST00000434452.1 - 14 2358 c.2204C>T c.(2203-2205)tCa>tTa p.S735L DSC3_ENST00000360428.4_Missense_Mutation_p.S735L NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 735 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.S735L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTCTGTGTTTGATATAATTAA 0.313000 21 69 0 0 1 0 0 PDGFB 5155 broad.mit.edu 37 22 39636869 39636869 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr22:39636869G>A ENST00000381551.4 - 1 45 c.9C>T c.(7-9)atC>atT p.I3I PDGFB_ENST00000331163.6_Intron NM_033016.2 NP_148937.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 0 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) CGAGGCCCATGATAAACATCT 0.488000 T COL1A1 DFSP 7 34 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315090 30315090 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:30315090C>G ENST00000375377.1 - 3 4088 c.3987G>C c.(3985-3987)gaG>gaC p.E1329D NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1329 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GATGCTCCTTCTCTTCCCTGG 0.582000 21 91 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 61 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129923878 129923878 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:129923878G>A ENST00000368654.3 - 2 429 c.54C>T c.(52-54)ccC>ccT p.P18P MKI67_ENST00000368653.3_Silent_p.P18P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 18 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGGGAAAGTGGGGACCGTCGA 0.542000 43 60 0 0 1 0 0 PPP1R18 170954 broad.mit.edu 37 6 30652771 30652771 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:30652771C>G ENST00000274853.3 - 1 2901 c.1025G>C c.(1024-1026)cGa>cCa p.R342P PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R342P NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 342 cytoplasm|cytoskeleton actin binding TGTCCATTCTCGAGCCTTCCC 0.572000 26 95 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6935949 6935949 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:6935949C>T ENST00000311268.3 + 5 2134 c.1347C>T c.(1345-1347)ctC>ctT p.L449L GPR162_ENST00000428545.2_Silent_p.L165L|GPR162_ENST00000382315.3_Silent_p.L145L NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 449 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GCCGGGCCCTCGGGGGTCCTC 0.612000 10 40 0 0 1 0 0 WIPF3 644150 broad.mit.edu 37 7 29923516 29923516 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:29923516C>T ENST00000409290.1 + 4 406 c.406C>T c.(406-408)Ccc>Tcc p.P136S WIPF3_ENST00000409123.1_Missense_Mutation_p.P136S|WIPF3_ENST00000242140.5_Missense_Mutation_p.P136S NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 136 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 TCCCAGGCTTCCCAACAAAAC 0.637000 4 10 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204881 66204881 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:66204881C>T ENST00000503581.1 - 4 960 c.423G>A c.(421-423)ctG>ctA p.L141L EYS_ENST00000342421.5_Silent_p.L141L|EYS_ENST00000393380.2_Silent_p.L141L|EYS_ENST00000370621.3_Silent_p.L141L|EYS_ENST00000370616.2_Silent_p.L141L|EYS_ENST00000370618.3_Silent_p.L141L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 141 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TCCCAACACTCAGCCACTTAG 0.428000 12 38 0 0 1 0 0 NUCB1 4924 broad.mit.edu 37 19 49404145 49404145 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:49404145G>A ENST00000405315.4 + 2 426 c.92G>A c.(91-93)cGa>cAa p.R31Q NUCB1_ENST00000263273.5_Missense_Mutation_p.R31Q|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.R31Q NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 31 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) CCCCTGGAGCGAGGGGCGCCC 0.662000 13 46 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691369 3691369 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:3691369G>A ENST00000403096.3 + 6 890 c.399G>A c.(397-399)gaG>gaA p.E133E COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Silent_p.E135E|COLEC11_ENST00000402794.1_Silent_p.E109E|COLEC11_ENST00000402922.1_Silent_p.E109E|COLEC11_ENST00000418971.2_Silent_p.E173E|COLEC11_ENST00000404205.1_Silent_p.E85E|COLEC11_ENST00000236693.7_Silent_p.E156E|COLEC11_ENST00000349077.4_Silent_p.E159E NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 159 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) TGGTGAAGGAGGAGAAGCGCT 0.632000 17 30 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79169680 79169680 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:79169680C>G ENST00000269392.4 - 16 2227 c.1980G>C c.(1978-1980)caG>caC p.Q660H AZI1_ENST00000450824.2_Missense_Mutation_p.Q657H|AZI1_ENST00000575907.1_Missense_Mutation_p.Q660H|AZI1_ENST00000374782.3_Missense_Mutation_p.Q657H NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 660 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGGTGCATCTCTGGTCCTCCT 0.632000 7 27 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32692639 32692639 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:32692639G>A ENST00000421745.2 + 27 5537 c.5403G>A c.(5401-5403)ttG>ttA p.L1801L NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1801 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTATATTGTTGACTGATGTAT 0.403000 19 26 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139145000 139145000 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:139145000G>A ENST00000395297.1 - 20 4227 c.4057C>T c.(4057-4059)Ctg>Ttg p.L1353L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1353 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCTTCAACCAGAGGGCCCAGG 0.532000 HNSCC(54;0.14) 121 118 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45003042 45003042 + Missense_Mutation SNP T T C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:45003042T>C ENST00000372176.1 - 15 1412 c.944A>G c.(943-945)gAa>gGa p.E315G ELMO2_ENST00000290246.6_Missense_Mutation_p.E403G|ELMO2_ENST00000454865.2_Missense_Mutation_p.E135G|ELMO2_ENST00000396391.1_Missense_Mutation_p.E403G|ELMO2_ENST00000439931.2_Missense_Mutation_p.E415G|ELMO2_ENST00000352077.2_Missense_Mutation_p.E401G|ELMO2_ENST00000445496.2_Missense_Mutation_p.E220G Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 403 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) AAAGGGGCATTCATGTTTGTC 0.527000 35 25 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53363649 53363649 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:53363649G>T ENST00000229416.6 - 16 2302 c.1819C>A c.(1819-1821)Caa>Aaa p.Q607K NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 607 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TTTGCAATTTGGTTACACTTC 0.363000 29 93 6.38683e-12 6.9022e-12 1 1 0 ZNF33B 7582 broad.mit.edu 37 10 43089800 43089800 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:43089800G>A ENST00000359467.3 - 5 712 c.598C>T c.(598-600)Ctg>Ttg p.L200L ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 200 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 CGATGACTCAGAGTGTTCCTA 0.358000 26 101 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50944157 50944157 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr22:50944157C>T ENST00000216080.5 - 6 955 c.787G>A c.(787-789)Gac>Aac p.D263N LMF2_ENST00000474879.2_Missense_Mutation_p.D288N|LMF2_ENST00000380796.3_Missense_Mutation_p.D288N|LMF2_ENST00000505981.1_5'UTR Q9BU23 LMF2_HUMAN lipase maturation factor 2 288 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGTGCTGGTCGTCCAGCAGC 0.642000 12 24 0 0 1 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3394474 3394474 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:3394474G>A ENST00000378378.4 + 11 1914 c.1509G>A c.(1507-1509)ctG>ctA p.L503L ARHGEF16_ENST00000378371.2_Silent_p.L215L|ARHGEF16_ENST00000413250.2_Silent_p.L207L|ARHGEF16_ENST00000378373.1_Silent_p.L215L NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 503 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGTGGCTGCTGAAGCGCGGAG 0.602000 7 40 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112110571 112110571 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:112110571G>A ENST00000419234.4 - 5 834 c.641C>T c.(640-642)gCg>gTg p.A214V BRAP_ENST00000327551.6_Missense_Mutation_p.A184V|BRAP_ENST00000539060.1_Intron NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 214 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 AAAACTATCCGCATCAGCCTA 0.383000 9 44 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42398543 42398543 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:42398543G>A ENST00000225308.8 - 8 724 c.550C>T c.(550-552)Cag>Tag p.Q184* SLC25A39_ENST00000590194.1_Nonsense_Mutation_p.Q184*|SLC25A39_ENST00000586016.1_Nonsense_Mutation_p.Q60*|SLC25A39_ENST00000377095.5_Nonsense_Mutation_p.Q192*|SLC25A39_ENST00000537904.2_Nonsense_Mutation_p.Q169* NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 192 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) GACACATGCTGAGCCTGCAGC 0.627000 10 23 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121028927 121028927 + Silent SNP G G A rs149232569 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:121028927G>A ENST00000392793.1 + 14 4954 c.4683G>A c.(4681-4683)acG>acA p.T1561T TECTA_ENST00000264037.2_Silent_p.T1561T O75443 TECTA_HUMAN tectorin alpha 1561 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACCGGAACACGGTCAAGGTAA 0.532000 13 14 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55336669 55336669 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:55336669C>T ENST00000536015.1 - 18 2097 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E660K NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 660 Missing (in PFIC1). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TCTTCAATTTCCTTGTAGCAA 0.343000 9 27 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33938557 33938557 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:33938557G>A ENST00000389232.4 + 29 3841 c.3771G>A c.(3769-3771)atG>atA p.M1257I RYR3_ENST00000415757.3_Missense_Mutation_p.M1257I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1257 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCAGGTCATGAGGATTGATG 0.512000 24 88 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21147655 21147655 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:21147655C>T ENST00000261383.3 - 6 875 c.876G>A c.(874-876)atG>atA p.M292I DNAH3_ENST00000415178.1_Missense_Mutation_p.M292I NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 292 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGATGCTTTTCATGAGGCTAC 0.483000 28 78 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966991 41966991 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:41966991G>A ENST00000298919.7 + 10 2018 c.1630G>A c.(1630-1632)Gct>Act p.A544T PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 804 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGGTTGTAGCGCTGAAAGCAA 0.517000 31 95 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75500062 75500062 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:75500062C>T ENST00000360639.2 + 2 1993 c.1673C>T c.(1672-1674)cCc>cTc p.P558L C15orf39_ENST00000567617.1_Missense_Mutation_p.P558L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P558L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 558 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CAGGAGGGCCCCTCAGGGAGT 0.622000 5 10 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73775131 73775131 + Missense_Mutation SNP T T C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:73775131T>C ENST00000254810.4 - 2 257 c.125A>G c.(124-126)tAc>tGc p.Y42C H3F3B_ENST00000589599.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000591890.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000592643.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000587560.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000586607.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000593254.1_Intron NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 42 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GACCTACCTGTAGCGATGAGG 0.687000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 7 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134987535 134987535 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:134987535G>A ENST00000535938.1 + 5 605 c.438G>A c.(436-438)atG>atA p.M146I SAGE1_ENST00000370709.3_Missense_Mutation_p.M146I|SAGE1_ENST00000537770.1_Missense_Mutation_p.M146I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M146I NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 146 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TTCCATCCATGAGTACCAGGG 0.423000 41 4 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143094931 143094931 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:143094931C>T ENST00000513000.1 - 17 1646 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K INPP4B_ENST00000262992.4_Missense_Mutation_p.E405K|INPP4B_ENST00000509777.1_Missense_Mutation_p.E405K|INPP4B_ENST00000308502.4_Missense_Mutation_p.E405K|INPP4B_ENST00000508116.1_Missense_Mutation_p.E405K NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 405 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GCTGTGTTTTCAGGTGAATAG 0.383000 32 67 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32692602 32692602 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:32692602G>T ENST00000421745.2 + 27 5500 c.5366G>T c.(5365-5367)aGa>aTa p.R1789I NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1789 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.R1761I(1)|p.R1789I(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGAGCAAGAAGATTTGTGACC 0.348000 17 27 5.3912e-06 5.63148e-06 1 1 0 NR1I3 9970 broad.mit.edu 37 1 161200542 161200542 + Silent SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:161200542A>G ENST00000506209.1 - 7 1033 c.891T>C c.(889-891)caT>caC p.H297H NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000508740.1_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 0 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCCAAGCTCAATGTTTCACCA 0.552000 8 31 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79025197 79025197 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:79025197G>A ENST00000446378.2 + 2 640 c.609G>A c.(607-609)ccG>ccA p.P203P NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 203 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATACACCTCCGATTACTGGGG 0.358000 7 17 0 0 1 0 0 EIF2A 83939 broad.mit.edu 37 3 150289864 150289864 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:150289864G>C ENST00000460851.1 + 10 1040 c.931G>C c.(931-933)Gac>Cac p.D311H EIF2A_ENST00000383043.3_Missense_Mutation_p.D97H|EIF2A_ENST00000406576.3_Missense_Mutation_p.D250H|EIF2A_ENST00000487799.1_Missense_Mutation_p.D286H|EIF2A_ENST00000273435.5_Missense_Mutation_p.D306H|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 311 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCCTGTATTTGACTTTGGAAC 0.393000 18 25 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92028201 92028201 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:92028201G>C ENST00000265742.3 + 20 3584 c.3208G>C c.(3208-3210)Gat>Cat p.D1070H NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 1070 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGATGGTTCAGATGTTTCAAG 0.443000 10 1 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78387364 78387364 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:78387364C>G ENST00000278550.7 - 30 5791 c.5329G>C c.(5329-5331)Gag>Cag p.E1777Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGCGCCACCTCCATGCCGTTG 0.627000 19 12 0 0 1 0 0 CSE1L 1434 broad.mit.edu 37 20 47700667 47700667 + Silent SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:47700667C>G ENST00000262982.2 + 15 1710 c.1587C>G c.(1585-1587)ctC>ctG p.L529L CSE1L_ENST00000396192.3_Silent_p.L473L|CSE1L_ENST00000542325.1_Silent_p.L312L NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 529 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTGAACGGCTCTTTACTATGC 0.408000 13 54 0 0 1 0 0 PURA 5813 broad.mit.edu 37 5 139494276 139494276 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:139494276C>T ENST00000331327.3 + 1 569 c.510C>T c.(508-510)atC>atT p.I170I NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 170 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCGCATCCGCCAGACGG 0.677000 6 15 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113780316 113780316 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:113780316G>C ENST00000259213.4 - 6 537 c.430C>G c.(430-432)Ctc>Gtc p.L144V NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 144 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TTCTTCCTGAGATGGTGATGT 0.438000 26 36 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149906931 149906931 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:149906931C>T ENST00000439741.2 - 5 666 c.416G>A c.(415-417)cGg>cAg p.R139Q MTMR11_ENST00000406732.3_Missense_Mutation_p.R111Q|MTMR11_ENST00000369140.3_Missense_Mutation_p.R67Q|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.R139Q NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 139 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCTGAGCAGCCGGAAGTCTCG 0.552000 25 38 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T rs67389650 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:7577127C>T ENST00000420246.2 - 8 943 c.811G>A c.(811-813)Gag>Aag p.E271K TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E271K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACGCACCTCAAAGCTGTTC 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 1 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8633277 8633277 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:8633277G>C ENST00000329286.6 + 3 661 c.378G>C c.(376-378)aaG>aaC p.K126N NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 126 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 ATATCACTAAGAAGGAGACAT 0.378000 31 90 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92790184 92790184 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:92790184C>T ENST00000532405.1 + 1 236 c.10C>T c.(10-12)Cgc>Tgc p.R4C SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R4C Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 4 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GATGGCGCTCCGCGGGACCCT 0.701000 3 3 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016601 58016601 + Nonsense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:58016601G>T ENST00000379218.2 + 6 1134 c.823G>T c.(823-825)Gag>Tag p.E275* SLC26A10_ENST00000320442.4_Nonsense_Mutation_p.E275* Q8NG04 S2610_HUMAN solute carrier family 26, member 10 275 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CAACCTGGCTGAGCTGCCCAG 0.557000 5 31 3.59834e-05 3.70708e-05 1 1 0 ING5 84289 broad.mit.edu 37 2 242662634 242662634 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:242662634G>A ENST00000313552.6 + 7 654 c.628G>A c.(628-630)Gag>Aag p.E210K ING5_ENST00000406941.1_Missense_Mutation_p.E210K NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 210 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GTGTCCAATTGAGTGGTTTCA 0.517000 39 121 0 0 1 0 0 ELP3 55140 broad.mit.edu 37 8 27954794 27954794 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:27954794G>C ENST00000256398.8 + 2 455 c.78G>C c.(76-78)ctG>ctC p.L26L ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000380353.4_5'UTR|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Intron|ELP3_ENST00000521015.1_Silent_p.L12L NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 26 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TTAAACAACTGATTGAAGCCC 0.383000 15 20 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344479 20344479 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:20344479C>G ENST00000298642.2 + 1 89 c.53C>G c.(52-54)tCt>tGt p.S18C NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGGGCTCTCTAATTCCTGG 0.383000 31 136 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72383916 72383916 + Nonstop_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:72383916G>C ENST00000430046.2 + 26 2548 c.2432G>C c.(2431-2433)tGa>tCa p.*811S FCHO2_ENST00000341845.6_Nonstop_Mutation_p.*811S|FCHO2_ENST00000512348.1_Nonstop_Mutation_p.*778S NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 0 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GCGGATTGTTGATGGACCTGG 0.408000 7 14 0 0 1 0 0 RRH 10692 broad.mit.edu 37 4 110763652 110763652 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:110763652C>T ENST00000317735.4 + 6 782 c.748C>T c.(748-750)Ctg>Ttg p.L250L NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 250 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CTGCATGTTTCTGGTGGCATG 0.398000 26 69 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1579345 1579345 + Silent SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:1579345C>A ENST00000572621.1 - 17 2821 c.2556G>T c.(2554-2556)gtG>gtT p.V852V PRPF8_ENST00000304992.6_Silent_p.V852V Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 852 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ACCGAGACTTCACACTGACAA 0.532000 15 16 4.75885e-15 5.1877e-15 1 1 0 UNC13A 23025 broad.mit.edu 37 19 17759246 17759246 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:17759246G>A ENST00000428389.2 - 17 2073 c.2074C>T c.(2074-2076)Ctg>Ttg p.L692L UNC13A_ENST00000551649.1_Silent_p.L604L|UNC13A_ENST00000519716.2_Silent_p.L604L|UNC13A_ENST00000550896.1_Silent_p.L602L|UNC13A_ENST00000252773.7_Silent_p.L604L|UNC13A_ENST00000552293.1_Silent_p.L604L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 604 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCACGCTGCAGGCAGTCGGCG 0.701000 7 4 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125250 12125250 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:12125250C>T ENST00000379388.2 + 4 5554 c.5222C>T c.(5221-5223)tCa>tTa p.S1741L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1741 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CAAGAATCTTCAGCTTCGAGT 0.413000 15 48 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792634 143792634 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:143792634C>T ENST00000408949.2 + 1 494 c.434C>T c.(433-435)tCa>tTa p.S145L NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GTCCTGGCCTCAACTTGCTGG 0.448000 20 91 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99764213 99764213 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:99764213G>A ENST00000360039.4 - 3 733 c.341C>T c.(340-342)tCt>tTt p.S114F GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S114F|GAL3ST4_ENST00000426974.2_Intron NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 114 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTTTACCCTAGAGGCCTGGAA 0.602000 19 119 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395565 154395565 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:154395565G>T ENST00000435029.4 + 1 2306 c.2146G>T c.(2146-2148)Gat>Tat p.D716Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 716 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCGACTCAAGGATGCTCTCCA 0.478000 22 19 6.44725e-10 6.92756e-10 1 1 0 EPN1 29924 broad.mit.edu 37 19 56206537 56206537 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:56206537G>A ENST00000411543.2 + 11 2351 c.1804G>A c.(1804-1806)Gtc>Atc p.V602I EPN1_ENST00000085079.7_Missense_Mutation_p.V490I|EPN1_ENST00000270460.6_Missense_Mutation_p.V516I NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 516 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) TGGCCCTTCCGTCACCAACCC 0.657000 11 32 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218646 244218646 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:244218646G>C ENST00000358704.4 + 2 1719 c.1570G>C c.(1570-1572)Gat>Cat p.D524H NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 GACCTTAGAAGATAGCTCTCA 0.348000 18 55 0 0 1 0 0 DPH7 92715 broad.mit.edu 37 9 140449838 140449838 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:140449838C>T ENST00000277540.2 - 9 1369 c.1212G>A c.(1210-1212)agG>agA p.R404R DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 TGCCATTCTTCCTCATGCCCT 0.587000 17 2 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31855682 31855682 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:31855682C>T ENST00000396184.3 - 16 1873 c.1669G>A c.(1669-1671)Gaa>Aaa p.E557K PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.E557K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E617K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E557K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E557K NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 557 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GCGCCTTCTTCAGCCTGGCTT 0.512000 45 175 0 0 1 0 0 DECR1 1666 broad.mit.edu 37 8 91013777 91013777 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:91013777C>T ENST00000220764.2 + 1 145 c.57C>T c.(55-57)ctC>ctT p.L19L DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_5'UTR NM_001359.1 NP_001350.1 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial 19 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) CCTGTGGCCTCGCTCCTCGGA 0.697000 OREG0018857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 20 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9459638 9459638 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:9459638G>A ENST00000379719.3 + 22 2643 c.2501G>A c.(2500-2502)aGa>aAa p.R834K NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 834 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) CTTCATGACAGAAAGATGTGT 0.318000 28 44 0 0 1 0 0 CCDC89 220388 broad.mit.edu 37 11 85396552 85396552 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:85396552C>T ENST00000316398.3 - 1 768 c.622G>A c.(622-624)Gag>Aag p.E208K NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 208 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGCTCCTTCTCGCGCGCCTGT 0.612000 4 71 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145428766 145428766 + Missense_Mutation SNP G G C rs146377978 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:145428766G>C ENST00000511217.1 + 6 1332 c.1280G>C c.(1279-1281)cGa>cCa p.R427P SH3RF2_ENST00000359120.4_Missense_Mutation_p.R427P Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 427 SH3 3. ligase activity|protein phosphatase 1 binding|zinc ion binding p.R427L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCACCGGGCGAGTCGGCATC 0.612000 OREG0016895 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 36 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618120 52618120 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:52618120C>G ENST00000600228.1 - 4 2558 c.2297G>C c.(2296-2298)aGa>aCa p.R766T ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 766 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R766T(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TCCAGTATGTCTTATTCGATG 0.378000 18 84 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31062300 31062300 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr21:31062300C>T ENST00000399914.1 - 3 813 c.292G>A c.(292-294)Gac>Aac p.D98N GRIK1_ENST00000389124.2_Missense_Mutation_p.D98N|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Missense_Mutation_p.D98N|GRIK1_ENST00000309434.7_Missense_Mutation_p.D98N|GRIK1_ENST00000399909.1_Missense_Mutation_p.D98N|GRIK1_ENST00000399907.1_Missense_Mutation_p.D98N|GRIK1_ENST00000389125.3_Missense_Mutation_p.D98N|GRIK1_ENST00000399913.1_Missense_Mutation_p.D98N|GRIK1_ENST00000327783.4_Missense_Mutation_p.D98N P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 98 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GCCAGCTGGTCACATGCTGAT 0.498000 14 46 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32692709 32692709 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:32692709G>C ENST00000421745.2 + 27 5607 c.5473G>C c.(5473-5475)Gag>Cag p.E1825Q NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1825 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.E1825Q(1)|p.E1797Q(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATTAGGAGAAGAGGTGGATGG 0.438000 17 16 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15711999 15711999 + Silent SNP C C T rs75898822 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:15711999C>T ENST00000399451.2 - 28 3307 c.2940G>A c.(2938-2940)ttG>ttA p.L980L ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.L1013L NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 980 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 TCATGGTGGCCAAAATGAGAG 0.408000 15 90 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36431529 36431529 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:36431529G>A ENST00000588831.1 + 3 2256 c.1202G>A c.(1201-1203)cGg>cAg p.R401Q LRFN3_ENST00000246529.3_Missense_Mutation_p.R401Q Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 401 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACCCCCCGCGGGACGGGGAT 0.682000 22 84 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20107215 20107215 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:20107215G>A ENST00000294543.6 - 4 278 c.37C>T c.(37-39)Cag>Tag p.Q13* TMCO4_ENST00000375122.2_Nonsense_Mutation_p.Q13*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.Q13* NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 13 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGAGGCTGCTGAGGCAGCCTC 0.607000 16 12 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41071430 41071430 + Missense_Mutation SNP G G A rs139699793 byFrequency TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:41071430G>A ENST00000352632.3 + 28 6103 c.6017G>A c.(6016-6018)cGa>cAa p.R2006Q SPTBN4_ENST00000338932.3_Missense_Mutation_p.R2006Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2006Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R749Q Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2006 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.R2006P(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGCTGGGGCGATCTCTGCTG 0.632000 13 15 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813154 158813154 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:158813154C>T ENST00000368141.4 + 3 612 c.351C>T c.(349-351)acC>acT p.T117T NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 117 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) CTGCACCCACCGCAAGAAACA 0.443000 8 13 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998068 27998068 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:27998068C>T ENST00000441525.1 - 1 1498 c.1384G>A c.(1384-1386)Gtc>Atc p.V462I NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 462 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CAGAAGAAGACGTGCCCACAA 0.463000 14 0 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 55 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99020201 99020201 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:99020201C>G ENST00000299157.4 - 3 1014 c.641G>C c.(640-642)aGa>aCa p.R214T IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 215 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TTTTACTGTTCTAATATTTCT 0.393000 16 61 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57089390 57089390 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:57089390C>T ENST00000436936.1 + 27 3930 c.3705C>T c.(3703-3705)ctC>ctT p.L1235L NLRC5_ENST00000262510.6_Silent_p.L1235L|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000539144.1_Intron|RP11-322D14.2_ENST00000562970.1_RNA Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1235 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TAGAGTCACTCTGCTGGTTGC 0.597000 10 18 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95480952 95480952 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:95480952G>A ENST00000356884.6 - 5 2042 c.1975C>T c.(1975-1977)Cag>Tag p.Q659* BICD2_ENST00000375512.3_Nonsense_Mutation_p.Q659* NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 659 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CCCAGCTCCTGAGAGGCAATG 0.602000 57 73 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26885845 26885845 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:26885845C>T ENST00000231021.4 - 11 1932 c.1760G>A c.(1759-1761)cGt>cAt p.R587H NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 587 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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 GGCACACACACGGATAGTGAG 0.483000 6 18 0 0 1 0 0 ACADS 35 broad.mit.edu 37 12 121164874 121164874 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:121164874C>T ENST00000242592.4 + 2 243 c.92C>T c.(91-93)tCt>tTt p.S31F ACADS_ENST00000411593.2_Missense_Mutation_p.S31F NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 31 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) ATCTACCAGTCTGTGGAACTG 0.567000 66 62 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552184 100552184 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:100552184C>T ENST00000319509.7 + 1 935 c.935C>T c.(934-936)tCt>tTt p.S312F mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACCCCCTTTTCTTATATTTCC 0.483000 39 434 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1647823 1647823 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:1647823C>G ENST00000356200.3 - 4 582 c.348G>C c.(346-348)aaG>aaC p.K116N RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Missense_Mutation_p.K140N|CDK11A_ENST00000378633.1_Missense_Mutation_p.K140N|CDK11A_ENST00000378638.2_Missense_Mutation_p.K116N|CDK11A_ENST00000404249.3_Missense_Mutation_p.K150N|CDK11A_ENST00000358779.5_Missense_Mutation_p.K140N|CDK11A_ENST00000357760.2_Missense_Mutation_p.K140N cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 TTTCCCTTCTCTTCTGTCTTT 0.507000 10 117 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 95034742 95034742 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr13:95034742C>T ENST00000377047.4 + 7 1842 c.1227C>T c.(1225-1227)gaC>gaT p.D409D NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 409 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TCTGCAAGGACGAGAGCGTGA 0.517000 10 64 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410218 105410218 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:105410218G>A ENST00000333244.5 - 7 11689 c.11570C>T c.(11569-11571)tCt>tTt p.S3857F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3857 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGGTCGGCAGAATGGGGCTG 0.637000 35 93 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1553955 1553955 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:1553955G>A ENST00000534940.1 - 5 411 c.186C>T c.(184-186)agC>agT p.S62S ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S44S|ASMTL_ENST00000381333.4_Silent_p.S104S|ASMTL_ENST00000381317.3_Silent_p.S120S NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 120 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGTGAACACGCTGTGTTCTC 0.587000 4 24 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10100747 10100747 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:10100747C>T ENST00000382452.2 - 4 528 c.246G>A c.(244-246)ctG>ctA p.L82L WDR1_ENST00000499869.2_Silent_p.L82L|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 82 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCCAGATCCTCAGCTTCCCAG 0.597000 4 31 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21357246 21357246 + RNA SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr22:21357246C>T ENST00000452284.1 + 0 622 THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 TCTTCATAATCCTCCAGAGCT 0.587000 29 30 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863212 6863212 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:6863212G>A ENST00000307659.5 + 7 1558 c.1103G>A c.(1102-1104)aGa>aAa p.R368K KIAA0232_ENST00000425103.1_Missense_Mutation_p.R368K NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 368 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CGGGGTAAGAGACCTTTAAAA 0.448000 19 91 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123215341 123215341 + Nonsense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:123215341C>T ENST00000371160.1 + 28 3177 c.2887C>T c.(2887-2889)Cag>Tag p.Q963* STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q963*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q963*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q963*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q963*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q894* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 963 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TGGACTTGATCAGTTGAAAAC 0.313000 61 6 0 0 1 0 0 KCTD6 200845 broad.mit.edu 37 3 58484490 58484490 + Missense_Mutation SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:58484490A>G ENST00000355076.6 + 1 991 c.8A>G c.(7-9)aAt>aGt p.N3S KCTD6_ENST00000490264.1_Missense_Mutation_p.N3S|KCTD6_ENST00000404589.3_Missense_Mutation_p.N3S|KCTD6_ENST00000479470.1_3'UTR NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 3 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) CAGATGGATAATGGAGACTGG 0.388000 50 57 0 0 1 0 0 ECHDC1 55862 broad.mit.edu 37 6 127611357 127611357 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:127611357C>T ENST00000531967.1 - 6 1084 c.581G>A c.(580-582)gGt>gAt p.G194D ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.G171D|ECHDC1_ENST00000430841.2_Missense_Mutation_p.G188D|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.G188D|ECHDC1_ENST00000454859.3_Missense_Mutation_p.G188D|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.G113D|ECHDC1_ENST00000488087.1_5'UTR NM_001139510.1 NP_001132982.1 Q9NTX5 ECHD1_HUMAN enoyl CoA hydratase domain containing 1 194 catalytic activity large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) GGTGGTGCCACCCCAGCTTGG 0.413000 8 59 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256925 140256925 + Missense_Mutation SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:140256925A>G ENST00000398631.2 + 1 1868 c.1868A>G c.(1867-1869)cAc>cGc p.H623R PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCCGTTCCACGTGGGGCTG 0.667000 33 28 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123526111 123526111 + Nonsense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:123526111G>A ENST00000422452.2 - 28 5542 c.5479C>T c.(5479-5481)Cga>Tga p.R1827* STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.R1820* NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TAAAGAATTCGAAGGGTGAAT 0.428000 34 23 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99020344 99020344 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:99020344C>T ENST00000299157.4 - 3 871 c.498G>A c.(496-498)atG>atA p.M166I IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 168 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TATTAATGTTCATTTCTTCTA 0.338000 19 63 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30515574 30515574 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:30515574G>A ENST00000356798.6 + 18 2404 c.2224G>A c.(2224-2226)Gac>Aac p.D742N ITGAL_ENST00000358164.5_Missense_Mutation_p.D659N|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 742 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GACACCGAGGGACCAAAGGGC 0.522000 17 26 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312457 111312457 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:111312457C>T ENST00000317012.4 - 2 1600 c.592G>A c.(592-594)Gag>Aag p.E198K CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 198 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 GCCTCCTTCTCAGCCCTCACC 0.532000 17 48 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98548541 98548541 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:98548541G>A ENST00000359863.4 + 38 5565 c.5356G>A c.(5356-5358)Gag>Aag p.E1786K TRRAP_ENST00000446306.3_Missense_Mutation_p.E1767K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1768K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1786 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTACAGCTTTGAGAAGGGGGA 0.408000 49 267 0 0 1 0 0 SMS 6611 broad.mit.edu 37 X 21985322 21985322 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:21985322G>A ENST00000404933.2 + 2 310 c.58G>A c.(58-60)Gag>Aag p.E20K SMS_ENST00000379404.1_Missense_Mutation_p.E20K|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_5'UTR NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 20 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) AGCTGATGGTGAGACCATTCT 0.498000 10 18 0 0 1 0 0 EMC3 55831 broad.mit.edu 37 3 10019116 10019116 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:10019116C>T ENST00000245046.2 - 2 628 c.170G>A c.(169-171)cGa>cAa p.R57Q EMC3_ENST00000429759.1_Missense_Mutation_p.R95Q|EMC3_ENST00000497557.1_5'UTR NM_018447.2 NP_060917.1 ER membrane protein complex subunit 3 GACTCTGCTTCGAATTAGGAC 0.353000 3 14 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44151899 44151899 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:44151899C>T ENST00000223357.3 + 17 2501 c.2196C>T c.(2194-2196)cgC>cgT p.R732R AEBP1_ENST00000450684.2_Silent_p.R307R NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 732 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 TCCCTGAACGCTACCTTTCGC 0.602000 8 51 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30927599 30927599 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr21:30927599G>C ENST00000399914.1 - 15 2857 c.2336C>G c.(2335-2337)aCt>aGt p.T779S GRIK1_ENST00000389124.2_Missense_Mutation_p.T794S|GRIK1_ENST00000535441.1_Missense_Mutation_p.T796S|GRIK1_ENST00000309434.7_Missense_Mutation_p.T796S|GRIK1_ENST00000399909.1_Missense_Mutation_p.T779S|GRIK1_ENST00000399907.1_Missense_Mutation_p.T794S|GRIK1_ENST00000389125.3_Missense_Mutation_p.T779S|GRIK1_ENST00000399913.1_Missense_Mutation_p.T794S|GRIK1_ENST00000327783.4_Missense_Mutation_p.T794S P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 794 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AATAGCAATAGTAATTTTATC 0.418000 32 90 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382529 56382529 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:56382529C>T ENST00000355701.3 - 30 6307 c.5437G>A c.(5437-5439)Gaa>Aaa p.E1813K BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1753K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1813K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1813 SH3 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCATTTAATTCCCCCTGGAGA 0.627000 10 12 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95552644 95552644 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:95552644G>C ENST00000371418.4 + 6 908 c.648G>C c.(646-648)tcG>tcC p.S216S LGI1_ENST00000371413.3_Silent_p.S216S|LGI1_ENST00000542308.1_Silent_p.S168S NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 216 LRRCT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GTCTCTCCTCGAAGGATTTTG 0.418000 20 87 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33614798 33614798 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:33614798C>A ENST00000399362.4 - 26 2880 c.2527G>T c.(2527-2529)Gat>Tat p.D843Y CLASP2_ENST00000359576.5_Missense_Mutation_p.D835Y|CLASP2_ENST00000539981.1_Missense_Mutation_p.D613Y|CLASP2_ENST00000480013.1_Missense_Mutation_p.D623Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.D324Y|CLASP2_ENST00000468888.2_Missense_Mutation_p.D844Y|CLASP2_ENST00000461133.3_Missense_Mutation_p.D602Y NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 844 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TTGGCGTCATCATCTGAATGC 0.393000 22 67 5.26018e-13 5.71758e-13 1 1 0 APOBEC2 10930 broad.mit.edu 37 6 41029374 41029374 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr6:41029374C>G ENST00000244669.2 + 2 483 c.439C>G c.(439-441)Ctg>Gtg p.L147V NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 147 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) GAACCTGCGTCTGCTCATTCT 0.552000 57 60 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11308601 11308601 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:11308601G>C ENST00000379261.4 + 6 650 c.558G>C c.(556-558)caG>caC p.Q186H CELF2_ENST00000609692.1_Missense_Mutation_p.Q162H|CELF2_ENST00000416382.2_Missense_Mutation_p.Q186H|CELF2_ENST00000399850.3_Missense_Mutation_p.Q162H|CELF2_ENST00000315874.4_Missense_Mutation_p.Q162H|CELF2_ENST00000542579.1_Missense_Mutation_p.Q193H|CELF2_ENST00000354897.3_Missense_Mutation_p.Q162H|CELF2_ENST00000427450.1_Missense_Mutation_p.Q162H|CELF2_ENST00000537122.1_Missense_Mutation_p.Q75H|CELF2_ENST00000417956.2_Missense_Mutation_p.Q162H|CELF2_ENST00000354440.2_Missense_Mutation_p.Q162H|CELF2_ENST00000450189.1_Missense_Mutation_p.Q193H|CELF2_ENST00000608830.1_Missense_Mutation_p.Q162H NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 186 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CAATGGCACAGAATGCAATCA 0.448000 28 20 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28424337 28424337 + Silent SNP T T C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:28424337T>C ENST00000261609.7 - 58 9078 c.8970A>G c.(8968-8970)tcA>tcG p.S2990S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2990 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATTCAAAGCTGACAGTGTCT 0.294000 58 55 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37351334 37351334 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:37351334G>T ENST00000231498.3 - 6 884 c.681C>A c.(679-681)ttC>ttA p.F227L NUP155_ENST00000513532.1_Missense_Mutation_p.F227L|NUP155_ENST00000381843.2_Missense_Mutation_p.F168L NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 227 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCCAGCCAAGAAAATTCTGC 0.368000 22 41 3.6726e-16 4.01524e-16 1 1 0 SETD7 80854 broad.mit.edu 37 4 140450296 140450296 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:140450296C>T ENST00000274031.3 - 4 1087 c.451G>A c.(451-453)Gag>Aag p.E151K SETD7_ENST00000506866.2_Missense_Mutation_p.E151K NM_030648.2 NP_085151.1 Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 151 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) GCGGTCCTCTCATCAGGGTAC 0.458000 35 76 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105503122 105503122 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:105503122C>T ENST00000276654.5 - 7 2467 c.2359G>A c.(2359-2361)Gat>Aat p.D787N LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.D768N NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 787 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCATTCACATCAAAGTCTGAA 0.418000 4 112 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178358553 178358553 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:178358553G>C ENST00000361362.2 + 5 769 c.239G>C c.(238-240)gGa>gCa p.G80A ZFP2_ENST00000503510.2_Missense_Mutation_p.G80A|ZFP2_ENST00000520301.1_Missense_Mutation_p.G80A|ZFP2_ENST00000523286.1_Missense_Mutation_p.G80A NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) AATTCACATGGAGAAGATGCC 0.368000 12 31 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130282181 130282181 + Nonsense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:130282181C>T ENST00000358511.6 + 2 365 c.334C>T c.(334-336)Cag>Tag p.Q112* COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Q112* NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 112 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAAGGCTCTTCAGGAGGCTCA 0.512000 13 14 0 0 1 0 0 AGA 175 broad.mit.edu 37 4 178358580 178358580 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:178358580C>T ENST00000264595.2 - 5 728 c.601G>A c.(601-603)Gat>Aat p.D201N AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 201 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) TGACCACGATCATCTTCTGTT 0.368000 9 17 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122618285 122618285 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:122618285G>A ENST00000319080.7 + 9 1615 c.1483G>A c.(1483-1485)Gat>Aat p.D495N MLXIP_ENST00000377037.2_Missense_Mutation_p.D85N|MLXIP_ENST00000538698.1_Missense_Mutation_p.D102N Q9HAP2 MLXIP_HUMAN MLX interacting protein regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CCTCACCCACGATGCCCCCGC 0.642000 8 7 0 0 1 0 0 MEST 4232 broad.mit.edu 37 7 130137015 130137015 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:130137015G>A ENST00000223215.4 + 3 421 c.200G>A c.(199-201)gGa>gAa p.G67E MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.G67E|MEST_ENST00000416162.2_Missense_Mutation_p.G58E|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.G58E|MEST_ENST00000341441.5_Missense_Mutation_p.G58E|MEST_ENST00000378576.4_Missense_Mutation_p.G58E NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 67 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) GGTGTGGTTGGAAGTCCAGAG 0.383000 17 91 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177093565 177093565 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:177093565G>A ENST00000393643.2 + 25 3439 c.3187G>A c.(3187-3189)Gag>Aag p.E1063K WDR17_ENST00000280190.4_Missense_Mutation_p.E1087K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1062K|WDR17_ENST00000508596.1_Missense_Mutation_p.E1048K NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1087 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GCAGTTAGCTGAGACAGCCCG 0.333000 10 28 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65681621 65681621 + Splice_Site SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr15:65681621C>T ENST00000352385.2 - 14 2746 c.e14+1 NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GAGCCACTCACGGTCAGGCAG 0.567000 4 9 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482235 178482235 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:178482235C>T ENST00000355689.5 - 1 1459 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TGTCTTGCTTCCTGTACTTGC 0.458000 56 134 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27187097 27187097 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:27187097G>A ENST00000222728.3 - 1 296 c.272C>T c.(271-273)tCg>tTg p.S91L RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 91 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 GCCACTGCCCGAGGGCGAGGC 0.622000 14 41 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984228 7984228 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:7984228C>T ENST00000543909.1 - 9 1072 c.313G>A c.(313-315)Gtc>Atc p.V105I SLC2A14_ENST00000431042.2_Missense_Mutation_p.V82I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V120I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V82I|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V105I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 105 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) AAGAGTCCGACGGAAAAGGAG 0.537000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324936 31324936 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr18:31324936G>A ENST00000269197.5 + 12 5124 c.5124G>A c.(5122-5124)atG>atA p.M1708I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1708 M -> V (in dbSNP:rs7232237). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CACAGAACATGAAAGCTTCCA 0.552000 24 29 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77256789 77256789 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:77256789C>T ENST00000248594.6 + 13 2065 c.1793C>T c.(1792-1794)aCt>aTt p.T598I PTPN12_ENST00000435495.2_Missense_Mutation_p.T468I|PTPN12_ENST00000415482.2_Missense_Mutation_p.T479I NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 598 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CTCAGTTTTACTAATCCACTT 0.408000 21 171 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5812933 5812933 + Missense_Mutation SNP G G A rs151153615 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:5812933G>A ENST00000339450.5 - 5 1066 c.977C>T c.(976-978)tCa>tTa p.S326L ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.S102L NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 326 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) GTCAGTATCTGAAGGAATGAT 0.408000 15 28 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396962 154396962 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:154396962G>C ENST00000435029.4 + 1 3703 c.3543G>C c.(3541-3543)aaG>aaC p.K1181N NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1181 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGCTGTCAAAGAAGACTGCTC 0.502000 9 25 0 0 1 0 0 C12orf52 84934 broad.mit.edu 37 12 113629186 113629186 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:113629186G>A ENST00000548278.1 + 4 1066 c.374G>A c.(373-375)gGg>gAg p.G125E RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.G125E|C12orf52_ENST00000552495.1_Missense_Mutation_p.G149E NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 125 negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 GCCAGCTTCGGGGCCCCGCGG 0.642000 17 17 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138703239 138703239 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:138703239G>A ENST00000389532.4 - 17 4789 c.4725C>T c.(4723-4725)gtC>gtT p.V1575V CAMSAP1_ENST00000312405.6_Silent_p.V1297V|CAMSAP1_ENST00000409386.3_Silent_p.V1586V|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1575 CKK. cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGTCCACACTGACAGACATGG 0.517000 3 4 0 0 1 0 0 TMEM147 10430 broad.mit.edu 37 19 36037609 36037609 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr19:36037609G>C ENST00000392204.2 + 3 424 c.96G>C c.(94-96)ctG>ctC p.L32L TMEM147_ENST00000222284.5_Silent_p.L81L|TMEM147_ENST00000392205.1_Silent_p.L81L NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 81 endoplasmic reticulum membrane|integral to membrane protein binding p.L81L(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGGCAGACCTGATAGGTCTAA 0.562000 26 51 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120054244 120054244 + Silent SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:120054244C>G ENST00000235547.6 + 3 409 c.270C>G c.(268-270)gtC>gtG p.V90V HSD3B1_ENST00000528909.1_Silent_p.V88V|HSD3B1_ENST00000369413.3_Silent_p.V88V NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 88 G -> S (in dbSNP:rs6684974). androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TCATTGATGTCTTCGGTGTCA 0.502000 10 44 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46239025 46239025 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr22:46239025G>A ENST00000252934.5 + 11 1657 c.1392G>A c.(1390-1392)ctG>ctA p.L464L ATXN10_ENST00000381061.4_Silent_p.L400L|ATXN10_ENST00000402380.3_Silent_p.L115L NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 0 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) GCGAAAAGCTGATCCTGAAAT 0.448000 11 68 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142222229 142222229 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:142222229G>T ENST00000350721.4 - 30 5384 c.5263C>A c.(5263-5265)Cag>Aag p.Q1755K ATR_ENST00000383101.3_Missense_Mutation_p.Q1691K NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1755 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCATTCACCTGAGTGATAACA 0.294000 Other conserved DNA damage response genes 9 20 4.68919e-08 4.95337e-08 1 1 0 SOX5 6660 broad.mit.edu 37 12 23687199 23687199 + Missense_Mutation SNP T T A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:23687199T>A ENST00000546136.1 - 14 2209 c.2207A>T c.(2206-2208)gAt>gTt p.D736V SOX5_ENST00000396007.2_Missense_Mutation_p.D363V|SOX5_ENST00000451604.2_Missense_Mutation_p.D749V|SOX5_ENST00000545921.1_Missense_Mutation_p.D739V|SOX5_ENST00000309359.1_Missense_Mutation_p.D736V|SOX5_ENST00000381381.2_Missense_Mutation_p.D628V|SOX5_ENST00000541536.1_Missense_Mutation_p.D628V|SOX5_ENST00000537393.1_Missense_Mutation_p.D714V P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 749 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 ACTCCCATAATCTACATCTGG 0.428000 42 104 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64701791 64701791 + Missense_Mutation SNP C C A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr14:64701791C>A ENST00000557772.1 - 7 1302 c.1303G>T c.(1303-1305)Gat>Tat p.D435Y ESR2_ENST00000554572.1_Missense_Mutation_p.D435Y|ESR2_ENST00000555278.1_Missense_Mutation_p.D435Y|ESR2_ENST00000357782.2_Missense_Mutation_p.D435Y|ESR2_ENST00000267525.6_Missense_Mutation_p.D344Y|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.D435Y|ESR2_ENST00000542956.1_Missense_Mutation_p.D435Y|ESR2_ENST00000358599.5_Missense_Mutation_p.D435Y|ESR2_ENST00000341099.4_Missense_Mutation_p.D435Y|ESR2_ENST00000553796.1_Missense_Mutation_p.D435Y NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 435 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ACCAAAGCATCGGTCACGGCG 0.572000 7 24 0.27861 0.27861 1 1 0 LCP1 3936 broad.mit.edu 37 13 46721099 46721099 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr13:46721099C>G ENST00000398576.2 - 13 1506 c.1118G>C c.(1117-1119)aGa>aCa p.R373T LCP1_ENST00000323076.2_Missense_Mutation_p.R373T P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 373 Actin-binding 1.|CH 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding p.R373I(1) breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GGCAGGGTATCTGTTAAAGAG 0.522000 T BCL6 NHL 20 99 0 0 1 0 0 DNAJB4 11080 broad.mit.edu 37 1 78470867 78470867 + Nonsense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:78470867C>T ENST00000370763.5 + 1 330 c.73C>T c.(73-75)Cga>Tga p.R25* GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_Intron NM_007034.3 NP_008965.2 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 25 J. protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 AAAGGCTTACCGAAAACAAGC 0.373000 26 86 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132002709 132002709 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr8:132002709C>T ENST00000286355.5 - 2 3132 c.1040G>A c.(1039-1041)cGc>cAc p.R347H ADCY8_ENST00000377928.3_Missense_Mutation_p.R347H NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 347 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAAAGCTTGGCGCTGGGCCCG 0.522000 HNSCC(32;0.087) 128 50 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237948027 237948027 + Nonsense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:237948027C>T ENST00000366574.2 + 90 13332 c.13015C>T c.(13015-13017)Cag>Tag p.Q4339* RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q4323*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q4345* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4339 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) AGACCCCACTCAGGATGAGGT 0.552000 31 25 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129156119 129156119 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:129156119G>A ENST00000429544.2 - 3 563 c.368C>T c.(367-369)tCa>tTa p.S123L MBD4_ENST00000249910.1_Missense_Mutation_p.S123L|MBD4_ENST00000503197.1_Missense_Mutation_p.S123L|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.S123L NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 123 MBD. depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 ATTAGCAAGTGAACTTTTGGA 0.338000 Base excision repair (BER), DNA glycosylases 9 34 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124422150 124422150 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:124422150G>A ENST00000545135.1 - 3 3696 c.400C>T c.(400-402)Cgg>Tgg p.R134W CCDC92_ENST00000545891.1_Missense_Mutation_p.R134W|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.R151W Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 151 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GTGCTGGCCCGCTGCTCCAGC 0.617000 54 53 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32692643 32692643 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:32692643G>A ENST00000421745.2 + 27 5541 c.5407G>A c.(5407-5409)Gat>Aat p.D1803N NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1803 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATTGTTGACTGATGTATTGAT 0.408000 17 26 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97624562 97624562 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:97624562C>T ENST00000371203.5 + 8 1443 c.856C>T c.(856-858)Ctg>Ttg p.L286L ENTPD1_ENST00000453258.2_Silent_p.L431L|RP11-248J23.7_ENST00000491114.1_Silent_p.F39F|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.L286L|ENTPD1_ENST00000543964.1_Silent_p.L316L|ENTPD1_ENST00000371207.3_Silent_p.L436L|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.L424L|RP11-429G19.3_ENST00000433113.1_RNA NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 424 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) CTCCCTCCTTCTGCAAGGCTA 0.488000 12 42 0 0 1 0 0 GORASP1 64689 broad.mit.edu 37 3 39139816 39139816 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:39139816C>T ENST00000319283.3 - 9 2055 c.1234G>A c.(1234-1236)Gag>Aag p.E412K GORASP1_ENST00000479927.1_Missense_Mutation_p.E317K|GORASP1_ENST00000422110.2_Missense_Mutation_p.E257K NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa 412 mitotic prophase|protein transport cytosol|Golgi apparatus|membrane central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GGTTCCTCCTCAGCCTGAGCT 0.612000 21 75 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25477387 25477387 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr20:25477387C>G ENST00000278886.6 - 10 1295 c.1222G>C c.(1222-1224)Gag>Cag p.E408Q NINL_ENST00000422516.1_Missense_Mutation_p.E408Q NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 408 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCGGCCCTCTCCAGGTCCTGC 0.602000 33 26 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132247062 132247062 + Silent SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:132247062C>G ENST00000260818.6 + 54 6659 c.6411C>G c.(6409-6411)ctC>ctG p.L2137L NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2137 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TTCCATACCTCTTAAAATTAC 0.393000 25 68 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84132867 84132867 + Missense_Mutation SNP G G A rs147669670 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:84132867G>A ENST00000343411.3 - 3 707 c.212C>T c.(211-213)tCa>tTa p.S71L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 71 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGAAATAAATGAATTTCTAGC 0.353000 15 63 0 0 1 0 0 ERP44 23071 broad.mit.edu 37 9 102769914 102769914 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:102769914C>G ENST00000262455.6 - 9 1019 c.820G>C c.(820-822)Gaa>Caa p.E274Q NM_015051.1 NP_055866.1 Q9BS26 ERP44_HUMAN endoplasmic reticulum protein 44 274 Interaction with ITPR1 (By similarity). cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2) 19 TCTAAACTTTCTGTATCTTCT 0.338000 16 22 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16199525 16199525 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:16199525C>T ENST00000375759.3 + 2 502 c.298C>T c.(298-300)Cgt>Tgt p.R100C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 100 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CATAGCATCTCGTAGTAGAGA 0.527000 19 61 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118677944 118677944 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:118677944G>C ENST00000376300.2 - 24 2008 c.1871C>G c.(1870-1872)tCc>tGc p.S624C HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.S623C NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 624 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 TTTCACCTTGGACAGCAGCAT 0.493000 5 26 0 0 1 0 0 BRE 9577 broad.mit.edu 37 2 28248115 28248115 + Nonsense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:28248115C>G ENST00000344773.2 + 5 461 c.323C>G c.(322-324)tCa>tGa p.S108* BRE_ENST00000361704.2_Nonsense_Mutation_p.S108*|BRE_ENST00000379624.1_Nonsense_Mutation_p.S108*|BRE_ENST00000379632.2_Nonsense_Mutation_p.S108*|BRE_ENST00000342045.2_Nonsense_Mutation_p.S108*|BRE_ENST00000603461.1_3'UTR NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 108 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TGGAATCCTTCAAATCCTGAA 0.408000 40 81 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52157322 52157322 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr5:52157322G>C ENST00000282588.6 + 3 682 c.224G>C c.(223-225)aGa>aCa p.R75T NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 75 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CCCAAAAACAGAACTGGAGAT 0.348000 12 37 0 0 1 0 0 TRUB2 26995 broad.mit.edu 37 9 131072029 131072029 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:131072029C>T ENST00000372890.4 - 8 1129 c.796G>A c.(796-798)Gac>Aac p.D266N TRUB2_ENST00000546104.1_Missense_Mutation_p.D210N|TRUB2_ENST00000460320.1_5'UTR NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 266 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 AGGGCACTGTCTAGCGTGAAG 0.582000 6 12 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44870204 44870204 + Splice_Site SNP A A T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:44870204A>T ENST00000377967.4 + 5 425 c.e5-1 KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(10)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTTCCTTTACAGAATGCTGCC 0.299000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 16 5 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4707267 4707267 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr16:4707267C>T ENST00000399577.5 + 5 557 c.464C>T c.(463-465)tCg>tTg p.S155L MGRN1_ENST00000415496.1_Missense_Mutation_p.S155L|MGRN1_ENST00000586183.1_Missense_Mutation_p.S155L|MGRN1_ENST00000262370.7_Missense_Mutation_p.S155L|MGRN1_ENST00000588994.1_Missense_Mutation_p.S155L NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 155 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 AAGAGCCCCTCGCTACAGTCC 0.617000 18 35 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27778620 27778620 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:27778620C>T ENST00000261716.3 + 2 573 c.54C>T c.(52-54)ctC>ctT p.L18L TAOK1_ENST00000536202.1_Silent_p.L18L NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 18 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity p.L18L(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TTGCAGAGCTCTTCTTCAAAG 0.443000 8 37 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122618238 122618238 + Missense_Mutation SNP G G T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:122618238G>T ENST00000263461.6 + 3 528 c.282G>T c.(280-282)aaG>aaT p.K94N NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 94 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TCAATGGGAAGATCATCGTCT 0.463000 11 45 4.68919e-08 4.95337e-08 1 1 0 SGSM2 9905 broad.mit.edu 37 17 2265520 2265520 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:2265520G>A ENST00000268989.3 + 4 591 c.414G>A c.(412-414)gaG>gaA p.E138E SGSM2_ENST00000574563.1_Silent_p.E138E|SGSM2_ENST00000426855.2_Silent_p.E138E NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 138 RUN. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CGCTCATCGAGAAAGTTCTGG 0.632000 11 12 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100701013 100701013 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:100701013C>G ENST00000370132.4 - 3 243 c.230G>C c.(229-231)aGa>aCa p.R77T DBT_ENST00000370131.3_Missense_Mutation_p.R77T NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 Lipoyl-binding. branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AGTTACTTCTCTAATCCCTTC 0.279000 12 37 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66872829 66872829 + Silent SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:66872829G>C ENST00000269080.2 - 32 4232 c.4095C>G c.(4093-4095)ctC>ctG p.L1365L ABCA8_ENST00000586539.1_Silent_p.L1405L|ABCA8_ENST00000430352.2_Silent_p.L1405L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1365 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CCTGCAGCTTGAGCGCATCCA 0.498000 15 48 0 0 1 0 0 TNFRSF18 8784 broad.mit.edu 37 1 1138988 1138988 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:1138988C>G ENST00000328596.6 - 4 750 c.751G>C c.(751-753)Gat>Cat p.D251H TNFRSF18_ENST00000379268.2_3'UTR NM_148901.1 NP_683699.1 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, member 18 0 anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCACCCCATCAGGGCCAGCA 0.657000 3 14 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390773 48390773 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:48390773G>A ENST00000224600.4 - 1 218 c.105C>T c.(103-105)ctC>ctT p.L35L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 35 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGTTATCCAAGAGGACCTTGG 0.582000 6 28 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74095690 74095690 + Splice_Site SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr10:74095690C>G ENST00000338820.3 - 8 1258 c.e8-1 DNAJB12_ENST00000394903.2_Splice_Site|DNAJB12_ENST00000461919.1_Splice_Site|DNAJB12_ENST00000444643.2_Splice_Site NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 AAGCCTTCCTCTGCAAAGCAA 0.592000 25 37 0 0 1 0 0 ZNF775 285971 broad.mit.edu 37 7 150094001 150094001 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:150094001C>T ENST00000329630.5 + 3 539 c.432C>T c.(430-432)ttC>ttT p.F144F NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAAGAGCTTCAGCCAGAAGC 0.677000 4 20 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133559266 133559266 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:133559266G>A ENST00000332070.3 + 10 1206 c.1004G>A c.(1003-1005)aGa>aAa p.R335K PHF6_ENST00000370803.3_Missense_Mutation_p.R335K|PHF6_ENST00000394292.1_Missense_Mutation_p.R336K|PHF6_ENST00000416404.2_Missense_Mutation_p.R301K NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) AATGATGAGAGAGATGAAGAA 0.368000 """F, N, Splice, Mis""" ETP ALL 14 20 0 0 1 0 0 LOC728715 728715 broad.mit.edu 37 12 9715608 9715608 + RNA SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr12:9715608A>G ENST00000520314.1 + 0 2803 GCTGGGCTCAATTTCACTGTA 0.433000 18 0 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1956492 1956492 + Splice_Site SNP A A G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:1956492A>G ENST00000378585.4 + 2 263 c.180A>G c.(178-180)ggA>ggG p.G60G NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 60 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTGGCATCGGAGGTGAGGGGC 0.692000 10 15 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 79002130 79002130 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr1:79002130C>G ENST00000370757.3 + 3 1075 c.838C>G c.(838-840)Ctg>Gtg p.L280V PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280V NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 280 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AAATCATTCTCTGGAAACCTG 0.358000 36 46 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 93511382 93511382 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr4:93511382C>T ENST00000282020.4 + 2 447 c.189C>T c.(187-189)atC>atT p.I63I GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.I63I NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 63 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTGAGAAAATCACATTTTCAG 0.388000 24 90 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884192 228884192 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr2:228884192C>T ENST00000392056.3 - 7 1424 c.1378G>A c.(1378-1380)Gat>Aat p.D460N SPHKAP_ENST00000344657.5_Missense_Mutation_p.D460N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 460 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGGCAGCATCACTGCCATCT 0.517000 32 19 0 0 1 0 0 PSMB3 5691 broad.mit.edu 37 17 36909447 36909447 + Silent SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:36909447G>A ENST00000225426.4 + 2 139 c.48G>A c.(46-48)ggG>ggA p.G16G NM_002795.2 NP_002786.2 P49720 PSB3_HUMAN proteasome (prosome, macropain) subunit, beta type, 3 16 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1) 4 CCATGAAGGGGAAGAACTGTG 0.607000 8 31 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9459655 9459655 + Missense_Mutation SNP G G C TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr11:9459655G>C ENST00000379719.3 + 22 2660 c.2518G>C c.(2518-2520)Gga>Cga p.G840R NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 840 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GTGTGTTCTCGGACTCTGTGC 0.318000 39 58 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 7 67 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38279699 38279699 + RNA SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr7:38279699C>T ENST00000436911.2 - 0 494 AAATAGACCACACTCTTGAGG 0.458000 12 46 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050894 49050894 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr3:49050894C>T ENST00000395474.3 + 2 2297 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W WDR6_ENST00000448293.1_Missense_Mutation_p.R592W|WDR6_ENST00000608424.1_Missense_Mutation_p.R643W|WDR6_ENST00000415265.2_Missense_Mutation_p.R91W NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 643 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GTGGAACCCTCGGTCACACGA 0.562000 9 38 0 0 1 0 0 EQTN 54586 broad.mit.edu 37 9 27292453 27292454 + Frame_Shift_Ins INS - - TT TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chr9:27292453_27292454insTT ENST00000380032.3 - 4 404_405 c.321_322insAA c.(319-324)aaatccfs p.S108fs EQTN_ENST00000380031.1_Frame_Shift_Ins_p.S108fs|EQTN_ENST00000537675.1_Intron|EQTN_ENST00000484994.1_5'UTR NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated TCAATGGTGGATTTTTCATATG 0.292 30 48 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe74157-d282-4d3c-9a01-4a894e8a0564 0db0f83a-bf9e-4b68-97d7-ec2c3f174156 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 5 --- --- --- ---