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 GANC 2595 broad.mit.edu 37 15 42631922 42631922 + Nonsense_Mutation SNP C C A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr15:42631922C>A ENST00000318010.8 + 17 2139 c.1899C>A c.(1897-1899)taC>taA p.Y633* NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 633 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) TGCGTTGGTACCAGGCTGGAG 0.562000 3 106 1.23904e-05 1.33896e-05 1 1 0 PRSS23 11098 broad.mit.edu 37 11 86519574 86519574 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr11:86519574G>A ENST00000280258.5 + 2 1314 c.889G>A c.(889-891)Gtc>Atc p.V297I PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.V265I NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 297 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTCTGTGACGTCAAAGACGA 0.557000 8 72 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022689 18022689 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr17:18022689G>A ENST00000205890.5 + 2 913 c.575G>A c.(574-576)cGc>cAc p.R192H NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 192 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGGTTCCCCCGCAGCCGCAGC 0.711000 3 25 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46518613 46518613 + Missense_Mutation SNP C C A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr19:46518613C>A ENST00000263284.2 + 8 944 c.944C>A c.(943-945)gCg>gAg p.A315E CCDC61_ENST00000536603.1_Intron|CCDC61_ENST00000594087.1_Intron|CCDC61_ENST00000595358.1_Missense_Mutation_p.A258E coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) CTCGAGGAGGCGAAGGCATCG 0.741000 6 24 0.00198382 0.00204486 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 3 56 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86210365 86210365 + Missense_Mutation SNP T T G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:86210365T>G ENST00000370571.2 - 57 5022 c.4656A>C c.(4654-4656)gaA>gaC p.E1552D COL24A1_ENST00000436319.1_Missense_Mutation_p.E1531D NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1552 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ATACTTTTTGTTCACAGTTAA 0.373000 13 62 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256720 69256720 + Missense_Mutation SNP G G C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr14:69256720G>C ENST00000439696.2 - 2 848 c.547C>G c.(547-549)Cgt>Ggt p.R183G ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R183G|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 183 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCCAGGGCACGGCGCTCTTCA 0.672000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 19 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48621022 48621022 + Missense_Mutation SNP C C A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr19:48621022C>A ENST00000263274.7 - 26 2875 c.2456G>T c.(2455-2457)aGc>aTc p.S819I LIG1_ENST00000536218.1_Missense_Mutation_p.S751I|LIG1_ENST00000427526.2_Missense_Mutation_p.S788I NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 819 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) AGGGCGTGGGCTGGGCAGCAC 0.622000 Nucleotide excision repair (NER) 5 22 0.184627 0.184627 1 1 0 SPEF2 79925 broad.mit.edu 37 5 35692786 35692786 + Missense_Mutation SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr5:35692786A>G ENST00000440995.2 + 12 1859 c.1859A>G c.(1858-1860)gAt>gGt p.D620G SPEF2_ENST00000509059.1_Missense_Mutation_p.D620G|SPEF2_ENST00000356031.3_Missense_Mutation_p.D620G|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 620 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATGAAGAAGATGCTCTACCA 0.393000 3 59 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7751115 7751115 + Missense_Mutation SNP T T A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr10:7751115T>A ENST00000358415.4 + 4 489 c.323T>A c.(322-324)gTt>gAt p.V108D ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.V97D NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 108 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GTGTTTGATGTTCAGATCCCC 0.453000 21 55 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 3 34 0 0 1 0 0 IL25 0 broad.mit.edu 37 14 23844881 23844881 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr14:23844881G>A ENST00000329715.2 + 2 584 c.326G>A c.(325-327)cGt>cAt p.R109H IL25_ENST00000397242.2_Missense_Mutation_p.R93H NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 109 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TACCACGCCCGTTGCCTGTGC 0.632000 12 103 0 0 1 0 0 CCDC174 51244 broad.mit.edu 37 3 14712672 14712672 + Missense_Mutation SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr3:14712672A>G ENST00000383794.3 + 11 1448 c.1375A>G c.(1375-1377)Atg>Gtg p.M459V CCDC174_ENST00000303688.7_Missense_Mutation_p.M383V NM_016474.4 NP_057558.3 coiled-coil domain containing 174 TCTGGATGACATGATTTCCTA 0.483000 33 48 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238289893 238289893 + Missense_Mutation SNP G G A rs115881121 by1000genomes TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr2:238289893G>A ENST00000295550.4 - 5 2014 c.1562C>T c.(1561-1563)tCg>tTg p.S521L COL6A3_ENST00000353578.4_Missense_Mutation_p.S315L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S114L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S521L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S315L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S315L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S114L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S320L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 521 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.S521L(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTACAGGGCCGAGCCGTCCAG 0.517000 29 65 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124532879 124532879 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr9:124532879G>A ENST00000408936.3 + 11 2136 c.1954G>A c.(1954-1956)Gca>Aca p.A652T DAB2IP_ENST00000259371.2_Missense_Mutation_p.A624T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A528T Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 652 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 p.A528>?(1) 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 CGTCCACACAGCACTGAGCAC 0.612000 3 40 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23287302 23287302 + Silent SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr10:23287302G>A ENST00000298032.5 + 11 1485 c.1401G>A c.(1399-1401)gcG>gcA p.A467A ARMC3_ENST00000409983.3_Silent_p.A467A|ARMC3_ENST00000409049.3_Silent_p.A467A|ARMC3_ENST00000376528.4_Silent_p.A204A NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 467 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCGCAACTGCGTGTGACGTTG 0.458000 13 15 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56647135 56647135 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr12:56647135G>A ENST00000267116.7 - 10 1158 c.1037C>T c.(1036-1038)gCt>gTt p.A346V NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 346 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 ATATCGAGCAGCCACATGCAG 0.582000 59 94 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26951278 26951278 + Silent SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr17:26951278G>A ENST00000528896.2 - 25 4799 c.4725C>T c.(4723-4725)aaC>aaT p.N1575N KIAA0100_ENST00000544884.1_Silent_p.N1432N|KIAA0100_ENST00000389003.3_Silent_p.N1432N NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1575 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAATAAGGCAGTTTCGGTTGT 0.453000 3 105 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104309804 104309804 + Missense_Mutation SNP C C G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr10:104309804C>G ENST00000369902.3 + 3 561 c.395C>G c.(394-396)gCc>gGc p.A132G SUFU_ENST00000369899.2_Missense_Mutation_p.A132G|SUFU_ENST00000423559.2_Missense_Mutation_p.A132G NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 132 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GGGGAGTCTGCCCCACCAACA 0.522000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 13 36 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95609134 95609134 + Silent SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr9:95609134A>G ENST00000395505.2 - 3 1919 c.1827T>C c.(1825-1827)ttT>ttC p.F609F ZNF484_ENST00000332591.6_Silent_p.F609F|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.F645F|ZNF484_ENST00000395506.3_Silent_p.F647F NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 ATCTGTCAGTAAAAGCCTTTC 0.423000 4 90 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898225 36898225 + Silent SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr3:36898225A>G ENST00000429976.2 - 12 3103 c.2856T>C c.(2854-2856)taT>taC p.Y952Y TRANK1_ENST00000428977.2_Silent_p.Y402Y|TRANK1_ENST00000301807.6_Silent_p.Y402Y O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 952 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGTCCTCCACATAGCAGCGAG 0.498000 5 216 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6640071 6640071 + Silent SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr11:6640071C>T ENST00000299427.6 - 3 225 c.165G>A c.(163-165)caG>caA p.Q55Q TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 55 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) CCACATTCTGCTGTCTCAGGG 0.612000 26 60 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72425401 72425401 + Missense_Mutation SNP G G T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr12:72425401G>T ENST00000333850.3 + 11 1540 c.1399G>T c.(1399-1401)Gtg>Ttg p.V467L NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 467 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TGAAAATGTGGTGCAGGACCT 0.418000 4 170 0.000602214 0.000630443 1 1 0 C9orf41 138199 broad.mit.edu 37 9 77599836 77599836 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr9:77599836C>T ENST00000376834.3 - 7 1267 c.1115G>A c.(1114-1116)gGa>gAa p.G372E C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 372 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 TACCTTGAATCCATACTGCAG 0.368000 3 39 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15430468 15430468 + Missense_Mutation SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr7:15430468A>G ENST00000342526.3 - 7 908 c.739T>C c.(739-741)Ttt>Ctt p.F247L NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 247 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TACTTACCAAAAATTTTATCC 0.259000 4 13 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 4 87 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53992051 53992051 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr15:53992051C>T ENST00000396328.1 - 13 1900 c.1661G>A c.(1660-1662)cGg>cAg p.R554Q WDR72_ENST00000557913.1_Missense_Mutation_p.R551Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R564Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R554Q NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 554 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AAGGTGCTTCCGGGCATGCAG 0.458000 43 109 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638565 56638565 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr12:56638565C>T ENST00000267116.7 - 24 2714 c.2593G>A c.(2593-2595)Gct>Act p.A865T NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 865 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GCGAAGGCAGCGGCGTGAAGG 0.582000 3 63 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138851601 138851601 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr7:138851601C>T ENST00000464848.1 + 10 991 c.911C>T c.(910-912)gCt>gTt p.A304V TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.A173V|TTC26_ENST00000478836.2_Missense_Mutation_p.A197V|TTC26_ENST00000430935.1_Missense_Mutation_p.A304V|TTC26_ENST00000343187.4_Missense_Mutation_p.A273V A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 304 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 GTACAAGAAGCTTATAACTTA 0.348000 5 56 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118426197 118426197 + Missense_Mutation SNP A A C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:118426197A>C ENST00000369443.4 - 11 1409 c.1160T>G c.(1159-1161)gTa>gGa p.V387G GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.V387G NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 387 CRAL-TRIO. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) ATACACTAATACATACTCCTT 0.363000 3 40 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186862236 186862236 + Missense_Mutation SNP T T G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:186862236T>G ENST00000367466.3 + 4 361 c.209T>G c.(208-210)gTg>gGg p.V70G PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V70G|PLA2G4A_ENST00000466600.1_3'UTR NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 70 C2.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.V70E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ATAAACCCTGTGTGGAATGAG 0.378000 19 151 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49580195 49580195 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr6:49580195G>A ENST00000371175.4 - 6 886 c.860C>T c.(859-861)gCg>gTg p.A287V RHAG_ENST00000229810.7_Missense_Mutation_p.A287V NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 287 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TGCCATATCCGCACAAGTGCC 0.473000 3 70 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185267218 185267218 + Nonsense_Mutation SNP A A C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:185267218A>C ENST00000367498.3 - 15 2500 c.1878T>G c.(1876-1878)taT>taG p.Y626* IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Y408*|IVNS1ABP_ENST00000459929.1_5'UTR NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 626 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 ACTCAAGGTTATAGACTTCCA 0.403000 52 99 0 0 1 0 0 STOML3 0 broad.mit.edu 37 13 39541069 39541069 + Missense_Mutation SNP C C A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr13:39541069C>A ENST00000379631.4 - 7 1113 c.769G>T c.(769-771)Gcc>Tcc p.A257S STOML3_ENST00000423210.1_Missense_Mutation_p.A248S NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 257 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TTCTCGGTGGCTACCGTGCTC 0.493000 4 51 0.00024832 0.000264086 1 1 0 PCDHGA12 0 broad.mit.edu 37 5 140812323 140812323 + Missense_Mutation SNP A A G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr5:140812323A>G ENST00000252085.3 + 1 2139 c.1997A>G c.(1996-1998)gAc>gGc p.D666G PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGTGGCCGACAGCATCCCC 0.662000 4 115 0 0 1 0 0 OR7C1 26664 broad.mit.edu 37 19 14910064 14910064 + Silent SNP C C A rs147900560 TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr19:14910064C>A ENST00000248073.2 - 1 959 c.885G>T c.(883-885)acG>acT p.T295T OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 295 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 TCTTCATGTCCGTGTTCCTCA 0.522000 3 83 0.00909568 0.00923349 1 1 0 LTF 4057 broad.mit.edu 37 3 46490370 46490370 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr3:46490370C>T ENST00000231751.4 - 9 1491 c.1196G>A c.(1195-1197)tGc>tAc p.C399Y LTF_ENST00000417439.1_Missense_Mutation_p.C399Y|LTF_ENST00000426532.2_Missense_Mutation_p.C355Y NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 399 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CAGGGCGATGCAGTCCTCTGT 0.637000 11 56 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42631923 42631923 + Missense_Mutation SNP C C A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr15:42631923C>A ENST00000318010.8 + 17 2140 c.1900C>A c.(1900-1902)Cag>Aag p.Q634K NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 634 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) GCGTTGGTACCAGGCTGGAGC 0.567000 3 105 1.23904e-05 1.33896e-05 1 1 0 TGM7 116179 broad.mit.edu 37 15 43579553 43579553 + Nonsense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr15:43579553G>A ENST00000452443.2 - 6 794 c.790C>T c.(790-792)Cag>Tag p.Q264* NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 264 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GACCACTGCTGTAGGATGGCC 0.592000 3 61 0 0 1 0 0 CUTA 51596 broad.mit.edu 37 6 33384486 33384486 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr6:33384486G>A ENST00000488478.1 - 5 516 c.431C>T c.(430-432)cCt>cTt p.P144L CUTA_ENST00000607266.1_Silent_p.L138L|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488034.1_Silent_p.L161L|CUTA_ENST00000374500.5_Silent_p.L180L|CUTA_ENST00000440279.3_Silent_p.L138L|CUTA_ENST00000374496.3_Silent_p.L138L O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 0 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 ACCCACTGCAGGTACGGAAAG 0.537000 3 58 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62257083 62257083 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr3:62257083G>A ENST00000474889.1 + 21 3412 c.3035G>A c.(3034-3036)cGt>cAt p.R1012H PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1012 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCCAAGGGTCGTCAGAATGAA 0.468000 6 56 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132274498 132274498 + RNA SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr2:132274498C>T ENST00000438378.2 + 0 1540 NR_026922.1 CTTCAGGCAGCGACTCCCAGC 0.632000 3 51 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19481549 19481549 + Silent SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:19481549C>T ENST00000375267.2 - 44 6324 c.6321G>A c.(6319-6321)gcG>gcA p.A2107A UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375254.3_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2107 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACCACCGCCCGCCACCTGGC 0.483000 10 151 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513199 106513199 + Silent SNP T T C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr7:106513199T>C ENST00000359195.3 + 4 2413 c.2103T>C c.(2101-2103)agT>agC p.S701S PIK3CG_ENST00000440650.2_Silent_p.S701S|PIK3CG_ENST00000496166.1_Silent_p.S701S NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 701 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TCTTGAGAAGTGAGATAGCCC 0.448000 23 36 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70423359 70423359 + Missense_Mutation SNP A A C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr18:70423359A>C ENST00000327305.6 - 8 1549 c.892T>G c.(892-894)Ttc>Gtc p.F298V NETO1_ENST00000583169.1_Missense_Mutation_p.F298V|NETO1_ENST00000299430.2_Missense_Mutation_p.F297V NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 298 LDL-receptor class A. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTATGGCAGAAGAATGTGTTG 0.353000 21 34 0 0 1 0 0 TMEM184B 25829 broad.mit.edu 37 22 38641959 38641959 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr22:38641959C>T ENST00000361906.3 - 3 548 c.340G>A c.(340-342)Gtc>Atc p.V114I TMEM184B_ENST00000361684.4_Missense_Mutation_p.V114I NM_001195072.1|NM_012264.4 NP_001182001.1|NP_036396.2 Q9Y519 T184B_HUMAN transmembrane protein 184B 114 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) CAGTCGCGGACGGTGCCGAAG 0.647000 17 22 0 0 1 0 0 SOX8 30812 broad.mit.edu 37 16 1033810 1033810 + Missense_Mutation SNP T T G TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr16:1033810T>G ENST00000293894.3 + 2 620 c.505T>G c.(505-507)Tac>Gac p.Y169D NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 169 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) CCACCCCGACTACAAGTACCA 0.682000 3 40 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266624 1266624 + Missense_Mutation SNP G G T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr11:1266624G>T ENST00000447027.1 + 31 8581 c.8523G>T c.(8521-8523)agG>agT p.R2841S RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R2838S Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2838 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCTCCAGGACCACGGCCA 0.692000 21 41 8.24728e-16 9.20947e-16 1 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 3 49 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56565351 56565351 + Silent SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr17:56565351G>A ENST00000323777.3 - 1 394 c.285C>T c.(283-285)ggC>ggT p.G95G NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 95 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCCCGGCCCGCCCAGCACCA 0.682000 3 44 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183474355 183474355 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr3:183474355G>A ENST00000305135.5 + 12 1625 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 477 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCATTGCCTCGAACCCCGACT 0.433000 13 137 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 6 150 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26135249 26135249 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:26135249G>A ENST00000361547.2 + 5 771 c.716G>A c.(715-717)cGc>cAc p.R239H SEPN1_ENST00000354177.4_Missense_Mutation_p.R205H|SEPN1_ENST00000374315.1_Missense_Mutation_p.R205H NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 239 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) TCCAACAACCGCTTCTATCCA 0.667000 4 145 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141567248 141567248 + Silent SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr8:141567248G>A ENST00000220592.5 - 8 1078 c.966C>T c.(964-966)taC>taT p.Y322Y AGO2_ENST00000519980.1_Silent_p.Y322Y NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GGAGGTGGGGGTAGCGCAGAA 0.587000 4 184 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418294 8418294 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:8418294G>A ENST00000337907.3 - 21 4935 c.4301C>T c.(4300-4302)tCc>tTc p.S1434F RERE_ENST00000476556.1_Missense_Mutation_p.S880F|RERE_ENST00000377464.1_Missense_Mutation_p.S1166F|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.S1434F NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1434 His-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) gtggaggtgggagtgaatgtg 0.642000 15 12 0 0 1 0 0 SCNN1A 0 broad.mit.edu 37 12 6471351 6471351 + Silent SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr12:6471351C>T ENST00000358945.3 - 3 1181 c.741G>A c.(739-741)gcG>gcA p.A247A SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.A306A|SCNN1A_ENST00000396966.2_Silent_p.A247A|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Silent_p.A270A|SCNN1A_ENST00000228916.2_Silent_p.A247A P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 247 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) ACTCCCTCACCGCATCCACCC 0.567000 11 108 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25176304 25176304 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr7:25176304G>A ENST00000409280.1 - 10 1368 c.1060C>T c.(1060-1062)Cgt>Tgt p.R354C C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 354 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 GGACAGGAACGTGGTCTTTGC 0.458000 3 116 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869891 4869891 + Missense_Mutation SNP G G A TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr11:4869891G>A ENST00000322101.2 - 1 623 c.548C>T c.(547-549)aCc>aTc p.T183I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAAGAATGGGTTAGGACCTG 0.542000 5 129 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63959566 63959566 + Missense_Mutation SNP C C T TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr10:63959566C>T ENST00000373789.3 - 11 1337 c.1241G>A c.(1240-1242)cGg>cAg p.R414Q RTKN2_ENST00000315289.2_Missense_Mutation_p.R216Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R435Q NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 414 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) AGGTGGTTTCCGTGGTGACAT 0.378000 21 50 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029062 150029062 + Silent SNP A A C TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr5:150029062A>C ENST00000394243.1 + 3 2331 c.1957A>C c.(1957-1959)Agg>Cgg p.R653R SYNPO_ENST00000307662.4_Silent_p.R409R|SYNPO_ENST00000519664.1_Silent_p.R409R|SYNPO_ENST00000522122.1_Silent_p.R653R NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 653 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGGCGGCAGAGGGACCAGGG 0.632000 9 18 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120611955 120611955 + Frame_Shift_Del DEL G G - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr1:120611955delG ENST00000256646.2 - 1 285 c.66delC c.(64-66)ccfs p.P22fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 22 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACCATGCGCGGGGGCCGCGC 0.756 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 2 4 --- --- --- --- DHX15 1665 broad.mit.edu 37 4 24544582 24544582 + Frame_Shift_Del DEL G G - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr4:24544582delG ENST00000336812.4 - 7 1472 c.1316delC c.(1315-1317)ctfs p.P439fs NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 439 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CGCAAATCCAGGATCAATCAC 0.313 17 107 --- --- --- --- VARS2 57176 broad.mit.edu 37 6 30882973 30882975 + In_Frame_Del DEL TAG TAG - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr6:30882973_30882975delTAG ENST00000321897.5 + 2 874_876 c.242_244delTAG c.(241-246)tta>t p.LV81del VARS2_ENST00000416670.2_In_Frame_Del_p.LV81del|VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_In_Frame_Del_p.LV111del Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 81 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CCTAAGGAGTTAGTATTGTATGA 0.468 20 79 --- --- --- --- AARS 16 broad.mit.edu 37 16 70287871 70287871 + Frame_Shift_Del DEL T T - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr16:70287871delT ENST00000261772.8 - 18 2614 c.2471delA c.(2470-2472)agfs p.K824fs NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 824 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) ATCCATGACCTTCTTTAGGGA 0.552 OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 165 --- --- --- --- RP11-795H16.3 0 broad.mit.edu 37 18 57816806 57816806 + RNA DEL C C - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr18:57816806delC ENST00000588794.1 + 0 346 CTGACCAGCACCATGGTGGTG 0.478 2 4 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 8 229 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-G9-7525-01A-31D-2260-08 TCGA-G9-7525-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e92edf41-954e-46d6-b1ec-63e2d070f16f 476829e1-ad0a-4621-9ec5-7e20e881c540 g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 2 4 --- --- --- ---