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 HECTD4 283450 broad.mit.edu 37 12 112708084 112708084 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr12:112708084C>T ENST00000550722.1 - 12 2085 c.1690G>A c.(1690-1692)Gcc>Acc p.A564T HECTD4_ENST00000430131.2_Missense_Mutation_p.A276T|HECTD4_ENST00000377560.5_Missense_Mutation_p.A526T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTAACCATGGCCTTCTCCATA 0.393000 5 248 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95085747 95085747 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr14:95085747G>A ENST00000553947.1 + 6 1822 c.934G>A c.(934-936)Gtg>Atg p.V312M SERPINA3_ENST00000393080.4_Missense_Mutation_p.V287M|SERPINA3_ENST00000482740.1_Missense_Mutation_p.V69M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V287M|SERPINA3_ENST00000467132.1_Missense_Mutation_p.V287M|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 287 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GATGGAGGAAGTGGAAGCCAT 0.577000 14 66 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87043729 87043729 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr1:87043729C>T ENST00000370563.3 + 12 2138 c.2096C>T c.(2095-2097)gCg>gTg p.A699V RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 699 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AATAGAGCCGCGTACATACCA 0.403000 19 16 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141038 21141038 + Missense_Mutation SNP A A C TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr9:21141038A>C ENST00000380229.2 - 1 1106 c.532T>G c.(532-534)Tca>Gca p.S178A NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 178 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATGTTTGTTGATAAGAACAAG 0.398000 6 195 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604541 13604541 + Missense_Mutation SNP T T C TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr4:13604541T>C ENST00000040738.5 - 10 4118 c.3983A>G c.(3982-3984)cAa>cGa p.Q1328R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1328 DNA binding AGTCAGACTTTGGTTAGGGAG 0.458000 31 142 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 50 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103870460 103870460 + Silent SNP T T C TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr4:103870460T>C ENST00000296422.7 - 4 477 c.336A>G c.(334-336)ttA>ttG p.L112L SLC9B1_ENST00000394789.3_Silent_p.L112L NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 112 integral to membrane solute:hydrogen antiporter activity TAATGAGTTGTAAAATTTTTC 0.348000 5 206 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176016160 176016160 + Silent SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr5:176016160C>T ENST00000510636.1 + 22 3259 c.2985C>T c.(2983-2985)gcC>gcT p.A995A CDHR2_ENST00000506348.1_Silent_p.A995A|CDHR2_ENST00000261944.5_Silent_p.A995A NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 995 Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCTCCGAGGCCGACGTGTTCG 0.622000 31 374 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79328944 79328944 + Silent SNP A A G rs115193980 by1000genomes TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr4:79328944A>G ENST00000264895.6 + 31 4697 c.4257A>G c.(4255-4257)gtA>gtG p.V1419V FRAS1_ENST00000325942.6_Silent_p.V1419V NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1418 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAGGCATCGTATGGTACAGGC 0.567000 6 67 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296448 79296448 + Silent SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:79296448C>T ENST00000419573.3 - 16 2467 c.2193G>A c.(2191-2193)ccG>ccA p.P731P RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P715P|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 731 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGGTGGCGCGCGGGGACTTGG 0.622000 64 103 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100417218 100417218 + Missense_Mutation SNP C C T rs61735975 byFrequency TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr7:100417218C>T ENST00000358173.3 - 6 1726 c.1258G>A c.(1258-1260)Gtc>Atc p.V420I EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.V420I NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 420 Fibronectin type-III 1. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity p.V420I(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TCAAATGGGACGGGCCCCGTG 0.612000 9 219 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122085268 122085268 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr4:122085268C>T ENST00000454328.1 - 3 240 c.13G>A c.(13-15)Gta>Ata p.V5I TNIP3_ENST00000507879.1_Missense_Mutation_p.V75I|TNIP3_ENST00000509841.1_Missense_Mutation_p.V82I|TNIP3_ENST00000057513.3_Missense_Mutation_p.V5I Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 5 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GTGCCCTGTACAAAATGTGCC 0.398000 6 203 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30414015 30414015 + Missense_Mutation SNP C C G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr22:30414015C>G ENST00000333027.3 + 16 2102 c.1774C>G c.(1774-1776)Cca>Gca p.P592A CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.P456A|MTMR3_ENST00000406629.1_Missense_Mutation_p.P592A|MTMR3_ENST00000401950.2_Missense_Mutation_p.P592A|MTMR3_ENST00000351488.3_Missense_Mutation_p.P592A NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 592 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CAGCTGTGCACCATACCCAGC 0.632000 12 173 0 0 1 0 0 ASMT 438 broad.mit.edu 37 X 1743284 1743284 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chrX:1743284G>A ENST00000381241.3 + 3 566 c.367G>A c.(367-369)Gcc>Acc p.A123T ASMT_ENST00000381229.4_Missense_Mutation_p.A123T|ASMT_ENST00000381233.3_Missense_Mutation_p.A123T NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 123 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) CCTGGCAGACGCCGTGAGGTG 0.677000 7 165 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971193 57971193 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr11:57971193C>T ENST00000302592.6 - 1 460 c.461G>A c.(460-462)gGc>gAc p.G154D NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GAGCAAAGTGCCGAACCTGGC 0.488000 5 334 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120776054 120776054 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr11:120776054G>A ENST00000527524.2 + 13 1615 c.1328G>A c.(1327-1329)cGc>cAc p.R443H GRIK4_ENST00000438375.2_Missense_Mutation_p.R443H Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 443 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R443H(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GGCAATGACCGCTACGAGGGC 0.547000 5 408 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180055 124180055 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr11:124180055G>A ENST00000357821.2 - 1 678 c.608C>T c.(607-609)gCg>gTg p.A203V NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A203V(1) kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GTTAAACCCCGCAATGATAAA 0.488000 14 47 0 0 1 0 0 CAMKMT 79823 broad.mit.edu 37 2 44993588 44993588 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr2:44993588C>T ENST00000378494.3 + 10 826 c.782C>T c.(781-783)gCc>gTc p.A261V NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 261 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 ATGGTATTTGCCCCACGCCGA 0.358000 4 150 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521666 32521666 + RNA SNP T T C rs117454723 by1000genomes TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr6:32521666T>C ENST00000411500.1 - 0 817 NR_001298.1 AACAGCCCTGTCCCAAGGAAG 0.507000 3 48 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058118 114058118 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr3:114058118G>A ENST00000462705.1 - 12 2562 c.1741C>T c.(1741-1743)Cgc>Tgc p.R581C ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 654 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CGGTGGAGGCGCATGTGCACG 0.552000 26 289 0 0 1 0 0 RRN3 54700 broad.mit.edu 37 16 15188060 15188060 + Missense_Mutation SNP G G A rs139679899 by1000genomes TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr16:15188060G>A ENST00000198767.6 - 1 114 c.31C>T c.(31-33)Ccg>Tcg p.P11S PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 11 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm p.P11S(3) NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 GCATCTCCCGGCAAACGCGTG 0.637000 3 22 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141264436 141264436 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr2:141264436C>T ENST00000389484.3 - 53 9421 c.8450G>A c.(8449-8451)tGc>tAc p.C2817Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2817 LDL-receptor class A 18. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTGGGAATGCATACTTTATT 0.383000 TSP Lung(27;0.18) 19 230 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502322 12502322 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr19:12502322C>T ENST00000419318.1 - 4 1543 c.794G>A c.(793-795)cGa>cAa p.R265Q CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.R297Q Q96GE5 ZN799_HUMAN zinc finger protein 799 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R297Q(1)|p.R84Q(1) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCGTGTCTTCGAAGGGAAGT 0.423000 15 334 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58191243 58191243 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr3:58191243C>T ENST00000483681.1 - 5 856 c.275G>A c.(274-276)cGg>cAg p.R92Q DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.R92Q|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R92Q Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 92 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TCTTCCAAGCCGAGAGCTAAT 0.378000 6 298 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113836598 113836598 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr12:113836598C>T ENST00000257549.4 - 4 369 c.247G>A c.(247-249)Gcc>Acc p.A83T NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 83 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACGATGGTGGCGGGGACGCCG 0.662000 16 33 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52546660 52546660 + Splice_Site SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr3:52546660G>A ENST00000321725.6 + 28 3103 c.e28+1 NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATGGCTTAAGGTAGGACAGGG 0.562000 29 136 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42614214 42614214 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:42614214G>A ENST00000318010.8 + 11 1529 c.1289G>A c.(1288-1290)cGt>cAt p.R430H NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 430 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGCAAAAAGCGTAAGGTAAAA 0.423000 3 40 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 114112981 114112981 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr11:114112981C>T ENST00000335953.4 + 5 1926 c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R516C NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 516 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGCGGGCGTGCGCAGCTACAT 0.627000 27 59 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 8 287 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141553 11141553 + Missense_Mutation SNP A A G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr19:11141553A>G ENST00000358026.2 + 25 3814 c.3530A>G c.(3529-3531)gAc>gGc p.D1177G SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1177G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1177G NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1177 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTTGACAGCGACTGGAATCCT 0.627000 """F, N, Mis""" NSCLC 5 26 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79555866 79555866 + Missense_Mutation SNP G G T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr10:79555866G>T ENST00000372391.2 - 29 5394 c.5389C>A c.(5389-5391)Cat>Aat p.H1797N DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.H1457N NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1797 Guanylate kinase-like. 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) ACATCGAAATGGCCGCTTCTC 0.522000 6 260 0.00198382 0.00203469 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 71 140 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31561248 31561248 + Missense_Mutation SNP A A G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr11:31561248A>G ENST00000395934.2 + 3 306 c.299A>G c.(298-300)aAg>aGg p.K100R ELP4_ENST00000379163.5_Missense_Mutation_p.K100R|ELP4_ENST00000350638.5_Missense_Mutation_p.K100R Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 100 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) TTGCTCTTCAAGTATTTCCTG 0.348000 80 230 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3784192 3784192 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr19:3784192C>T ENST00000310132.6 - 5 690 c.292G>A c.(292-294)Ggg>Agg p.G98R MATK_ENST00000395040.2_Missense_Mutation_p.G57R|MATK_ENST00000395045.2_Missense_Mutation_p.G99R|MATK_ENST00000585778.1_Missense_Mutation_p.G98R NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 98 SH3. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGCAGCCCCTCCTGTCCA 0.687000 5 147 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107144431 107144431 + Splice_Site SNP A A G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr12:107144431A>G ENST00000392842.1 + 17 2210 c.e17-1 RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site|RFX4_ENST00000229387.5_Splice_Site NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GATGCATTTTAGATACACGGG 0.423000 6 591 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18529342 18529342 + Silent SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr20:18529342G>A ENST00000336714.3 + 16 2265 c.1833G>A c.(1831-1833)cgG>cgA p.R611R SEC23B_ENST00000262544.2_Silent_p.R611R|SEC23B_ENST00000377465.1_Silent_p.R611R|SEC23B_ENST00000377475.3_Silent_p.R611R NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 611 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 ATTTTGCCCGGCAGGACCTGA 0.463000 5 148 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33501271 33501271 + Missense_Mutation SNP C C T rs112012777 byFrequency TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr20:33501271C>T ENST00000360596.2 + 4 753 c.542C>T c.(541-543)gCc>gTc p.A181V ACSS2_ENST00000336325.4_Missense_Mutation_p.A131V|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.A181V NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 181 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTGGCATGTGCCCGCATTGGG 0.572000 4 187 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791828 42791828 + Nonsense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr19:42791828G>A ENST00000572681.2 + 6 3509 c.3441G>A c.(3439-3441)tgG>tgA p.W1147* CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W238* Q96RK0 CIC_HUMAN capicua transcriptional repressor 238 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCGAGTGGTGGTATGCCCTGG 0.617000 """Mis, F, S""" oligodendroglioma 9 86 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57782005 57782005 + Silent SNP T T C TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr20:57782005T>C ENST00000371030.2 + 3 3921 c.3921T>C c.(3919-3921)agT>agC p.S1307S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1307 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGAGAGCCAGTAGACTTCGCA 0.552000 14 417 0 0 1 0 0 LACE1 246269 broad.mit.edu 37 6 108841010 108841010 + Silent SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr6:108841010C>T ENST00000368977.4 + 12 1500 c.1314C>T c.(1312-1314)agC>agT p.S438S NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 438 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) TGGGGCTGAGCCAGGTAGGCG 0.368000 4 161 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47228631 47228631 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr19:47228631G>A ENST00000391910.3 - 11 1901 c.1451C>T c.(1450-1452)gCg>gTg p.A484V STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.A477V|STRN4_ENST00000539396.1_Missense_Mutation_p.A358V Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 477 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) ATCTAGCGCCGCATTCCTGTG 0.597000 5 199 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3015524 3015524 + Missense_Mutation SNP G G T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr4:3015524G>T ENST00000398052.4 + 8 1053 c.710G>T c.(709-711)aGa>aTa p.R237I GRK4_ENST00000345167.6_Missense_Mutation_p.R205I|GRK4_ENST00000398051.4_Missense_Mutation_p.R205I|GRK4_ENST00000504933.1_Missense_Mutation_p.R237I NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 237 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AATGAGAAAAGAATTCTGGAG 0.398000 15 192 1.49906e-05 1.57796e-05 1 1 0 CDH26 60437 broad.mit.edu 37 20 58571755 58571755 + Missense_Mutation SNP A A G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr20:58571755A>G ENST00000348616.4 + 13 2258 c.1958A>G c.(1957-1959)aAt>aGt p.N653S CDH26_ENST00000244049.3_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Intron|CDH26_ENST00000244047.5_Missense_Mutation_p.N653S NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 653 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TCTGTATCCAATGATGAAGGC 0.438000 16 409 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72460091 72460091 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:72460091C>T ENST00000309731.7 - 5 371 c.358G>A c.(358-360)Ggc>Agc p.G120S NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 120 GRAM. integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 ATATCCTTGCCAAAGAGGCTG 0.587000 5 159 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060261 35060261 + Silent SNP C C A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr20:35060261C>A ENST00000373913.3 + 3 621 c.141C>A c.(139-141)ccC>ccA p.P47P DLGAP4_ENST00000401952.2_Silent_p.P47P|DLGAP4_ENST00000339266.5_Silent_p.P47P|DLGAP4_ENST00000373907.2_Silent_p.P47P Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 47 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCGCTTCCCCGGGCAGAACA 0.672000 48 68 2.84425e-11 3.07486e-11 1 1 0 EIF4A1 1973 broad.mit.edu 37 17 7480734 7480734 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr17:7480734C>T ENST00000293831.8 + 7 713 c.697C>T c.(697-699)Cgg>Tgg p.R233W SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R233W|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R233W NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 233 Helicase ATP-binding. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 GGACCCCATTCGGATTCTTGT 0.532000 43 141 0 0 1 0 0 METTL20 254013 broad.mit.edu 37 12 31814956 31814956 + Silent SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr12:31814956C>T ENST00000357721.3 + 2 284 c.69C>T c.(67-69)agC>agT p.S23S METTL20_ENST00000412352.2_Silent_p.S23S|METTL20_ENST00000395763.3_Silent_p.S23S|METTL20_ENST00000538463.1_Silent_p.S23S|METTL20_ENST00000538391.1_Silent_p.S23S NM_001135863.1 NP_001129335.1 Q8IXQ9 MET20_HUMAN methyltransferase like 20 23 cytoplasm protein methyltransferase activity lung(2)|stomach(1) 3 CTCTGCGAAGCAGTGGTCTTC 0.517000 5 235 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149359993 149359993 + Silent SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr5:149359993G>A ENST00000286298.4 + 3 1105 c.837G>A c.(835-837)cgG>cgA p.R279R NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 279 R -> W (in AO2). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACCTTCCTCGGACTAATGGTG 0.463000 50 207 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070191 114070191 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr3:114070191G>A ENST00000462705.1 - 11 1336 c.515C>T c.(514-516)tCg>tTg p.S172L ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172L NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTAGAGTGCCGAGTAGATCCT 0.672000 21 126 0 0 1 0 0 FAM169B 283777 broad.mit.edu 37 15 98982908 98982908 + Silent SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:98982908G>A ENST00000558256.1 - 7 780 c.531C>T c.(529-531)gcC>gcT p.A177A FAM169B_ENST00000332908.4_Silent_p.A177A NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 177 large_intestine(3)|lung(3)|urinary_tract(1) 7 CTGCCAGCCCGGCATCCTCCT 0.582000 35 48 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124528875 124528875 + Silent SNP C C G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr9:124528875C>G ENST00000408936.3 + 9 1745 c.1563C>G c.(1561-1563)ctC>ctG p.L521L DAB2IP_ENST00000309989.1_Silent_p.L397L|DAB2IP_ENST00000259371.2_Silent_p.L493L Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 521 Ras-GAP. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GCGCCTCCCTCTTCCTGCGCT 0.632000 83 118 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868352 97868352 + Silent SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr3:97868352G>A ENST00000437310.1 + 1 183 c.123G>A c.(121-123)ggG>ggA p.G41G NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCATCATGGGGAATCTTGGTC 0.403000 199 361 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25438381 25438381 + RNA SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:25438381C>T ENST00000424208.1 + 0 1240 SNHG14_ENST00000414175.1_RNA NR_003305.1 TGGGCACTTCCTGGCACCCTG 0.592000 63 108 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505808 44505808 + Missense_Mutation SNP G G T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr20:44505808G>T ENST00000255152.2 + 2 820 c.611G>T c.(610-612)aGc>aTc p.S204I ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S198I NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 204 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GACCGGCTCAGCTTCCAGAGC 0.527000 15 172 2.32078e-09 2.4755e-09 1 1 0 SMC6 79677 broad.mit.edu 37 2 17847757 17847757 + Missense_Mutation SNP C C A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr2:17847757C>A ENST00000448223.2 - 27 3360 c.3091G>T c.(3091-3093)Gac>Tac p.D1031Y SMC6_ENST00000351948.4_Missense_Mutation_p.D1031Y|SMC6_ENST00000381272.4_Missense_Mutation_p.D1057Y|SMC6_ENST00000402989.1_Missense_Mutation_p.D1031Y NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 1031 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGTATCAAGTCCATGGCAATT 0.373000 14 88 3.45872e-05 3.59347e-05 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65682659 65682659 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:65682659C>T ENST00000352385.2 - 13 2451 c.2242G>A c.(2242-2244)Gga>Aga p.G748R NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 748 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 AGGGGTGGTCCCCTCTGGATA 0.498000 38 59 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52516581 52516581 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr13:52516581C>T ENST00000242839.4 - 15 3509 c.3353G>A c.(3352-3354)cGc>cAc p.R1118H ATP7B_ENST00000417240.2_Missense_Mutation_p.R329H|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1040H|ATP7B_ENST00000400370.3_Missense_Mutation_p.R688H|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1007H|ATP7B_ENST00000344297.5_Missense_Mutation_p.R911H|ATP7B_ENST00000418097.2_Missense_Mutation_p.R1053H NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1118 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACTCAAAGGGCGCTCACTGTG 0.557000 Wilson disease 49 90 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739660 129739660 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr11:129739660G>A ENST00000446488.3 - 23 3363 c.3260C>T c.(3259-3261)aCg>aTg p.T1087M NFRKB_ENST00000304521.5_Missense_Mutation_p.T1087M|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1087M|NFRKB_ENST00000524794.1_Missense_Mutation_p.T1112M NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1087 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GATGCGGATCGTGGCAGCTGG 0.592000 4 229 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998531 46998531 + Silent SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr19:46998531G>A ENST00000599531.1 - 1 1224 c.192C>T c.(190-192)gcC>gcT p.A64A PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Silent_p.A64A NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 64 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ccaccagggcggcctgggcct 0.627000 99 77 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33518314 33518314 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr2:33518314G>A ENST00000404816.2 + 20 3553 c.3200G>A c.(3199-3201)gGc>gAc p.G1067D LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.G741D|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1068D|LTBP1_ENST00000272273.5_Missense_Mutation_p.G7D|LTBP1_ENST00000390003.4_Missense_Mutation_p.G742D|LTBP1_ENST00000418533.2_Missense_Mutation_p.G741D|LTBP1_ENST00000404525.1_Missense_Mutation_p.G688D|LTBP1_ENST00000402934.1_Missense_Mutation_p.G688D Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1067 EGF-like 8; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGCCACAAAGGCTATACCCGG 0.413000 76 95 0 0 1 0 0 HYKK 123688 broad.mit.edu 37 15 78805580 78805580 + Silent SNP C C G TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr15:78805580C>G ENST00000566332.1 + 2 210 c.150C>G c.(148-150)gtC>gtG p.V50V HYKK_ENST00000569878.1_Silent_p.V50V|HYKK_ENST00000388988.4_Silent_p.V50V|HYKK_ENST00000408962.2_Silent_p.V50V|HYKK_ENST00000360519.3_Silent_p.V50V|HYKK_ENST00000563233.1_Silent_p.V50V hydroxylysine kinase ACTTTCATGTCTACGTTTCAA 0.438000 70 150 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 5 261 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8502385 8502385 + Silent SNP C C A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chrX:8502385C>A ENST00000262648.3 - 13 2108 c.1959G>T c.(1957-1959)ccG>ccT p.P653P NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 653 axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GTGGGAGCTCCGGCGTCCGGA 0.562000 3 57 1 1 1 1 0 C18orf25 147339 broad.mit.edu 37 18 43833711 43833711 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr18:43833711C>T ENST00000282059.6 + 4 1321 c.947C>T c.(946-948)gCg>gTg p.A316V C18orf25_ENST00000321319.6_Missense_Mutation_p.A255V NM_145055.3 NP_659492.1 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 316 p.A316V(1) central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 TCTGGCAATGCGCCACTCAAT 0.408000 5 222 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42821420 42821420 + Missense_Mutation SNP G G A TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr6:42821420G>A ENST00000314073.5 + 8 2166 c.1990G>A c.(1990-1992)Gca>Aca p.A664T GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T GLTSCR1-like CTTAGGAACCGCACAACCACA 0.428000 5 182 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677437 149677437 + Nonsense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr5:149677437C>T ENST00000328668.7 - 2 1629 c.1050G>A c.(1048-1050)tgG>tgA p.W350* NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 350 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTCGGGTACCAGTCAGTGA 0.637000 14 86 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220299766 220299766 + Frame_Shift_Del DEL C C - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr2:220299766delC ENST00000312358.7 + 1 199 c.67delC c.(67-69)ccfs p.P24fs NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 24 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCGGAGTGCCCCCGAAAAG 0.756 2 4 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 8 600 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 7 571 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 12 12 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 10 369 --- --- --- --- CFL2 1073 broad.mit.edu 37 14 35182753 35182754 + Frame_Shift_Del DEL TG TG - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr14:35182753_35182754delTG ENST00000341223.3 - 2 168_169 c.17_18delCA c.(16-18)afs p.T6fs CFL2_ENST00000298159.6_Frame_Shift_Del_p.T6fs|CFL2_ENST00000556161.1_5'UTR|CFL2_ENST00000555765.1_5'UTR NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 6 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) CATCATTCACTGTAACTCCAGA 0.332 48 97 --- --- --- --- RP11-652G5.1 0 broad.mit.edu 37 16 32611806 32611806 + RNA DEL T T - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chr16:32611806delT ENST00000562976.1 + 0 135 gatgtgccagtttttctgtat 0.333 11 56 --- --- --- --- LONRF3 79836 broad.mit.edu 37 X 118108965 118108965 + Frame_Shift_Del DEL A A - TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a94ac1-015a-4f95-be04-1ae1bc582df1 785b4ba0-ae5f-464b-a257-06ff197f176f g.chrX:118108965delA ENST00000365713.2 + 1 385 c.222delA c.(220-222)gcfs p.A74fs LONRF3_ENST00000304778.7_Frame_Shift_Del_p.A74fs|LONRF3_ENST00000371628.3_Frame_Shift_Del_p.A74fs Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 74 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 TCACGCAGGCAGACGCCTTGG 0.672 2 4 --- --- --- ---