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 ABCA4 24 broad.mit.edu 37 1 94506793 94506793 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:94506793T>C ENST00000370225.3 - 23 3580 c.3494A>G c.(3493-3495)aAc>aGc p.N1165S NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1165 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCTCTGGATGTTTTTCATCTT 0.562000 9 107 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50611624 50611624 + Nonsense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:50611624C>A ENST00000444124.2 - 2 360 c.160G>T c.(160-162)Gag>Tag p.E54* DDC_ENST00000426377.1_Nonsense_Mutation_p.E54*|DDC_ENST00000431062.1_Nonsense_Mutation_p.E54*|DDC_ENST00000380984.4_Nonsense_Mutation_p.E54*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E54* NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 54 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ATGATGTCCTCAAACGTGTCT 0.562000 84 176 1.19472e-48 1.41681e-48 1 1 0 CXorf67 340602 broad.mit.edu 37 X 51150063 51150063 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:51150063C>T ENST00000342995.2 + 1 297 c.195C>T c.(193-195)gcC>gcT p.A65A chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 GCAGCACAGCCGGTTCTTCCG 0.637000 5 31 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062328 53062328 + Nonsense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:53062328A>T ENST00000276480.7 - 16 2699 c.2016T>A c.(2014-2016)taT>taA p.Y672* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 672 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GAGTTTTGCTATAGTTGATAG 0.443000 8 76 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380358 108380358 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:108380358T>C ENST00000265843.4 - 6 5986 c.5876A>G c.(5875-5877)tAt>tGt p.Y1959C EXPH5_ENST00000443411.1_Missense_Mutation_p.Y1771C|EXPH5_ENST00000428840.1_Missense_Mutation_p.Y1883C|EXPH5_ENST00000525344.1_Missense_Mutation_p.Y1952C NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1959 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTCATCCTCATAGATATTAAG 0.448000 68 143 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740034 32740034 + Splice_Site SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:32740034C>T ENST00000333070.4 + 2 204 c.105_splice c.e2+1 p.T35_splice LCK_ENST00000336890.5_Splice_Site_p.T35_splice|LCK_ENST00000373564.3_Splice_Site_p.T35_splice NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 35 Interactions with CD4 and CD8 (By similarity). T -> R (in Ref. 2; AAA59502). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GGCAAGGGCACGGTAAGAGGC 0.532000 T TRB@ T-ALL 28 70 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22056762 22056762 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr18:22056762G>A ENST00000256906.4 + 3 509 c.409G>A c.(409-411)Gtg>Atg p.V137M HRH4_ENST00000426880.2_Intron NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 137 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TACTCTGATGGTGGCCGTTTG 0.388000 43 113 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 100011184 100011184 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:100011184A>G ENST00000289371.5 + 21 3294 c.3092A>G c.(3091-3093)tAt>tGt p.Y1031C NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1031 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTTTTAGGTATGCAGTAATT 0.338000 48 166 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 58 0 0 1 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382142 101382142 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:101382142A>T ENST00000372780.1 + 3 559 c.340A>T c.(340-342)Agt>Tgt p.S114C TCEAL2_ENST00000329035.2_Missense_Mutation_p.S114C NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 agagccagagagtgagggaga 0.537000 51 101 0 0 1 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840355 1840355 + Missense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:1840355C>A ENST00000331238.5 - 2 779 c.761G>T c.(760-762)gGc>gTc p.G254V NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 254 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CCAGGGGTTGCCGTTGAGGCG 0.682000 19 19 4.35082e-09 4.73471e-09 1 1 0 TMEM54 113452 broad.mit.edu 37 1 33363922 33363922 + Splice_Site SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:33363922T>A ENST00000373463.3 - 2 136 c.e2-2 TMEM54_ENST00000475208.1_Splice_Site|TMEM54_ENST00000329151.5_Splice_Site NM_033504.2 NP_277039.1 Q969K7 TMM54_HUMAN transmembrane protein 54 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCAGGCCTCCTGTGGGGGACA 0.602000 31 70 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45877295 45877295 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr21:45877295G>T ENST00000291592.4 + 2 1085 c.768G>T c.(766-768)ggG>ggT p.G256G NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 256 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) TCGGCCCGGGGCCCTAGCGCC 0.637000 6 94 5.18039e-06 5.50789e-06 1 1 0 FAT2 2196 broad.mit.edu 37 5 150922100 150922100 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:150922100A>G ENST00000261800.5 - 9 8600 c.8588T>C c.(8587-8589)cTt>cCt p.L2863P NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2863 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCACAGTCAAGTTCCTGGAG 0.532000 28 159 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741197 140741197 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:140741197C>T ENST00000522605.1 + 1 1495 c.1495C>T c.(1495-1497)Cgg>Tgg p.R499W PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGAAGCCGCGGGAGATTTT 0.617000 20 123 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576852 7576852 + Splice_Site SNP C C T rs11575997 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:7576852C>T ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(24)|p.0?(8)|p.I332fs*49(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGACTTAGTACCTGAAGGGTG 0.458000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 66 68 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101674 168101674 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:168101674G>A ENST00000409195.1 + 9 3861 c.3772G>A c.(3772-3774)Gat>Aat p.D1258N XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1036N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1258N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1083 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCAAGAAGGTGATGAATGTGT 0.338000 15 194 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62488775 62488775 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:62488775G>A ENST00000301785.5 - 9 1795 c.1603C>T c.(1603-1605)Ctt>Ttt p.L535F RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.L535F NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 535 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ACCTGATCAAGAATAAAGTTC 0.428000 20 472 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154863042 154863042 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:154863042C>T ENST00000287907.2 + 1 1009 c.433C>T c.(433-435)Cgc>Tgc p.R145C AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 145 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GTCCATCACGCGCCACATGGA 0.632000 30 106 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738746 176738746 + Nonsense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:176738746G>T ENST00000367662.3 + 16 5491 c.4327G>T c.(4327-4329)Gaa>Taa p.E1443* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1443 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E1443K(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTTCTAGAAGGAAATTCTGCT 0.453000 26 77 7.92952e-12 8.89068e-12 1 1 0 SLC13A2 9058 broad.mit.edu 37 17 26817912 26817912 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:26817912G>C ENST00000444914.3 + 4 1129 c.709G>C c.(709-711)Gtg>Ctg p.V237L SLC13A2_ENST00000545060.1_Missense_Mutation_p.V145L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V117L|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V188L NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 188 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCAGAAGGAGGTGACCAAGCT 0.582000 10 43 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096196 167096196 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:167096196G>A ENST00000361200.2 + 6 1994 c.1828G>A c.(1828-1830)Gag>Aag p.E610K DUSP27_ENST00000271385.5_Missense_Mutation_p.E610K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E610K|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 610 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGAGGTGGTGGAGCTCAGCAA 0.602000 5 49 0 0 1 0 0 TRIP10 9322 broad.mit.edu 37 19 6749986 6749986 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:6749986C>T ENST00000600428.1 + 11 1458 c.812C>T c.(811-813)cCt>cTt p.P271L TRIP10_ENST00000313244.9_Missense_Mutation_p.P435L|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.P379L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P379L Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 435 Induction of membrane tubulation. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 GAGAAGACACCTCAGATGGGG 0.478000 64 197 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95280053 95280053 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:95280053A>T ENST00000344604.5 - 3 546 c.397T>A c.(397-399)Tgt>Agt p.C133S CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.C133S|ECM2_ENST00000375540.1_Missense_Mutation_p.C133S NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 133 VWFC. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 GTTTCATCACAAAGAACTCTT 0.522000 113 163 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11545926 11545926 + Silent SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:11545926A>G ENST00000389362.4 - 3 1121 c.1086T>C c.(1084-1086)ccT>ccC p.P362P PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GCTTTCCTGGAGGAGATCGGG 0.612000 137 503 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93176022 93176022 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:93176022G>A ENST00000393218.2 - 12 1352 c.1015C>T c.(1015-1017)Ctg>Ttg p.L339L LGMN_ENST00000334869.4_Silent_p.L339L|LGMN_ENST00000557434.1_Silent_p.L339L|LGMN_ENST00000555699.1_Silent_p.L339L NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 339 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) CTCACATCCAGATGCCGCTGG 0.592000 62 240 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242350491 242350491 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:242350491C>T ENST00000264042.3 + 6 624 c.454C>T c.(454-456)Cgt>Tgt p.R152C FARP2_ENST00000545004.1_Missense_Mutation_p.R152C|FARP2_ENST00000373287.4_Missense_Mutation_p.R152C NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 152 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCTGGAAGAGCGTTTGACCTG 0.493000 9 37 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151875040 151875040 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:151875040C>T ENST00000355193.2 - 38 7716 c.7498G>A c.(7498-7500)Gtg>Atg p.V2500M KMT2C_ENST00000262189.6_Missense_Mutation_p.V2500M lysine (K)-specific methyltransferase 2C TGAGGAGGCACAAGGAAGCGC 0.363000 29 191 0 0 1 0 0 DDX39A 10212 broad.mit.edu 37 19 14521049 14521049 + Silent SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:14521049C>A ENST00000242776.4 - 6 812 c.711G>T c.(709-711)gtG>gtT p.V237V DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Silent_p.V237V NM_005804.3 NP_005795.2 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 237 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 ACTTCCTGCACACAGGCCGGA 0.632000 44 113 5.73435e-26 6.63034e-26 1 1 0 FAXDC2 10826 broad.mit.edu 37 5 154200018 154200018 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:154200018T>C ENST00000326080.5 - 9 1283 c.860A>G c.(859-861)tAt>tGt p.Y287C FAXDC2_ENST00000517938.1_Missense_Mutation_p.Y264C NM_032385.3 NP_115761.2 fatty acid hydroxylase domain containing 2 CAGCACCCCATAGCACTGGTT 0.572000 15 94 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90798195 90798195 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:90798195G>T ENST00000354366.3 - 1 286 c.54C>A c.(52-54)agC>agA p.S18R NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CTTTCCTGGAGCTCCCGCCAT 0.592000 40 266 8.20599e-20 9.37103e-20 1 1 0 PMAIP1 5366 broad.mit.edu 37 18 57569917 57569917 + Nonsense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr18:57569917G>A ENST00000269518.9 + 3 410 c.248G>A c.(247-249)tGg>tAg p.W83* PMAIP1_ENST00000316660.6_Missense_Mutation_p.G33R Q13794 APR_HUMAN phorbol-12-myristate-13-acetate-induced protein 1 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis cytosol|mitochondrial outer membrane|nucleus protein binding breast(1) 1 Colorectal(73;0.0946) CAGGAGATTTGGAGACAAACT 0.433000 42 92 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8224685 8224685 + Missense_Mutation SNP G G T rs148540586 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:8224685G>T ENST00000539824.1 + 10 1377 c.1003G>T c.(1003-1005)Gtg>Ttg p.V335L SH3TC1_ENST00000245105.3_Missense_Mutation_p.V411L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 411 SH3. binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TGTCTGCAGCGTGTACAGCCT 0.602000 9 55 2.80697e-09 3.07272e-09 1 1 0 GLDC 2731 broad.mit.edu 37 9 6587232 6587232 + Nonsense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:6587232G>A ENST00000321612.6 - 15 1909 c.1759C>T c.(1759-1761)Caa>Taa p.Q587* NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 587 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCTTGAGCTTGATCCAGAGGC 0.403000 31 78 0 0 1 0 0 GSKIP 51527 broad.mit.edu 37 14 96851862 96851862 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:96851862G>A ENST00000556095.1 + 4 2073 c.261G>A c.(259-261)gtG>gtA p.V87V GSKIP_ENST00000438650.1_Silent_p.V87V|GSKIP_ENST00000554182.1_Silent_p.V87V|GSKIP_ENST00000555181.1_Silent_p.V87V NM_001271904.1 NP_001258833.1 GSK3B interacting protein TCTTGTAGGTGGTAGGCTATG 0.398000 38 150 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828761 13828761 + Missense_Mutation SNP T T G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:13828761T>G ENST00000279593.3 - 4 1252 c.1043A>C c.(1042-1044)aAt>aCt p.N348T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 348 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGGACAAATTCCTCCCCTC 0.408000 35 117 0 0 1 0 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29230748 29230748 + RNA SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:29230748A>G ENST00000441381.1 + 0 79 AACAACAACAACAACACAATG 0.388000 10 64 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28880897 28880897 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:28880897C>T ENST00000282397.4 - 29 3984 c.3733G>A c.(3733-3735)Gac>Aac p.D1245N FLT1_ENST00000543394.1_Missense_Mutation_p.D268N|FLT1_ENST00000540678.1_Missense_Mutation_p.D463N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1245 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGCTGCTGTCGCCCTGGTAG 0.552000 26 83 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 28 0 0 1 0 0 TRAPPC6A 79090 broad.mit.edu 37 19 45681404 45681404 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:45681404G>T ENST00000006275.4 - 1 91 c.73C>A c.(73-75)Ccc>Acc p.P25T TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.P25T NM_024108.1 NP_077013.1 O75865 TPC6A_HUMAN trafficking protein particle complex 6A 25 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 8 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) CCCGGGCCGGGGTCGGGGTCG 0.677000 17 86 9.16793e-09 9.91852e-09 1 1 0 OR2T4 127074 broad.mit.edu 37 1 248524920 248524920 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:248524920G>T ENST00000366475.1 + 1 38 c.38G>T c.(37-39)tGg>tTg p.W13L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACACTGGATGGTCGGATTTC 0.483000 27 99 1.17739e-12 1.32816e-12 1 1 0 TEKT3 64518 broad.mit.edu 37 17 15231310 15231310 + Splice_Site SNP G G A rs143165525 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:15231310G>A ENST00000395930.1 - 4 848 c.663_splice c.e4+1 p.T221_splice TEKT3_ENST00000338696.2_Splice_Site_p.T221_splice NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 221 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CACATTTACCGTCAGCAGTTG 0.383000 44 136 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 193 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16674967 16674967 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:16674967C>T ENST00000513610.1 - 35 5413 c.4959G>A c.(4957-4959)ctG>ctA p.L1653L MYO10_ENST00000505695.1_Silent_p.L992L|MYO10_ENST00000515803.1_Silent_p.L992L|MYO10_ENST00000427430.2_Silent_p.L1010L|MYO10_ENST00000274203.9_Silent_p.L1010L NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1653 MyTH4. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TTTACCTTTTCAGATGGAACT 0.547000 27 277 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559465 20559465 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:20559465C>T ENST00000329697.6 - 8 1185 c.1017G>A c.(1015-1017)gaG>gaA p.E339E ACSM2B_ENST00000565232.1_Silent_p.E339E|ACSM2B_ENST00000565322.1_Silent_p.E260E|ACSM2B_ENST00000567001.1_Silent_p.E339E|ACSM2B_ENST00000567288.1_5'UTR NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 339 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GAAGAAGGGACTCCCCTCCAG 0.527000 98 208 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 4 86 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53616150 53616150 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:53616150G>T ENST00000219022.2 + 3 541 c.463G>T c.(463-465)Gac>Tac p.D155Y NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 155 cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CACTGAACTGGACTTCGAGCT 0.403000 32 90 9.65021e-13 1.09527e-12 1 1 0 RTEL1 51750 broad.mit.edu 37 20 62326202 62326202 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr20:62326202C>T ENST00000318100.4 + 32 4045 c.3218C>T c.(3217-3219)tCc>tTc p.S1073F RTEL1_ENST00000508582.2_Missense_Mutation_p.S1097F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S1073F|RTEL1_ENST00000370003.1_Missense_Mutation_p.S318F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S1073F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S1073F Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 1073 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCCCTGGGGTCCGCGGGCTGT 0.662000 24 148 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100728042 100728042 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:100728042G>A ENST00000360820.2 + 14 2297 c.1860G>A c.(1858-1860)caG>caA p.Q620Q NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 620 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 AAGAACAGCAGAAGTAAGTAG 0.338000 24 70 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92560274 92560274 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:92560274T>C ENST00000377067.3 + 6 1736 c.1364T>C c.(1363-1365)aTa>aCa p.I455T NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 455 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATCCTGTGATAAATCAGATT 0.358000 21 63 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40681270 40681270 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:40681270A>T ENST00000298910.7 + 20 2676 c.2618A>T c.(2617-2619)gAt>gTt p.D873V LRRK2_ENST00000343742.2_Missense_Mutation_p.D873V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 873 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCTAAATTTGATGAATGGACC 0.383000 11 80 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131922053 131922053 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:131922053G>A ENST00000286355.5 - 6 3633 c.1541C>T c.(1540-1542)tCg>tTg p.S514L ADCY8_ENST00000377928.3_Missense_Mutation_p.S514L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 514 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCACAGCACCGAGCCGGAGTG 0.478000 HNSCC(32;0.087) 25 177 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71663461 71663461 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:71663461G>A ENST00000567566.1 + 2 728 c.659G>A c.(658-660)tGa>tAa p.*220* MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000268485.3_Intron|MARVELD3_ENST00000567501.1_Intron|MARVELD3_ENST00000299952.4_Intron Q96A59 MALD3_HUMAN MARVEL domain containing 3 0 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GGGATGGTCTGAGCTGGTGAA 0.403000 11 66 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52794093 52794093 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:52794093G>A ENST00000245457.5 + 2 1152 c.998G>A c.(997-999)cGg>cAg p.R333Q PTGER2_ENST00000557436.1_Missense_Mutation_p.R78Q NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 333 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CTCTGTTGTCGGATTTCATTA 0.408000 35 139 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11537572 11537572 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:11537572C>T ENST00000356392.4 - 5 732 c.645G>A c.(643-645)aaG>aaA p.K215K CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Silent_p.K24K|CCDC151_ENST00000545100.1_Silent_p.K161K NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 215 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TCATCTGGGCCTTCTCCAGGC 0.627000 26 73 0 0 1 0 0 ZNF880 400713 broad.mit.edu 37 19 52888227 52888227 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:52888227G>A ENST00000422689.2 + 4 1409 c.1394G>A c.(1393-1395)aGa>aAa p.R465K NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 465 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AAACCTTACAGATGTGATGAA 0.398000 4 15 0 0 1 0 0 FAM222B 55731 broad.mit.edu 37 17 27086837 27086837 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:27086837G>A ENST00000341217.5 - 3 355 c.140C>T c.(139-141)gCg>gTg p.A47V FAM222B_ENST00000452648.3_Missense_Mutation_p.A47V|FAM222B_ENST00000583953.1_Intron|FAM222B_ENST00000583522.1_Intron|FAM222B_ENST00000582266.1_Intron|FAM222B_ENST00000582059.1_Intron|FAM222B_ENST00000581407.1_Missense_Mutation_p.A47V|FAM222B_ENST00000581381.1_Intron|FAM222B_ENST00000577682.1_Intron NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 47 CTTAGCATACGCATCCAATTC 0.502000 11 19 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247201495 247201495 + Silent SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:247201495A>G ENST00000366503.2 - 4 584 c.426T>C c.(424-426)caT>caC p.H142H NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) ATTGTTTGCAATGATATAACT 0.413000 74 199 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100287445 100287445 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:100287445C>G ENST00000395996.1 + 19 2898 c.2787C>G c.(2785-2787)atC>atG p.I929M VPS13B_ENST00000358544.2_Missense_Mutation_p.I929M|VPS13B_ENST00000357162.2_Missense_Mutation_p.I929M Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 929 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTTCACAATCCAAGTTCCAC 0.398000 43 292 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996297 31996297 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:31996297G>A ENST00000435363.2 + 25 3302 c.3218G>A c.(3217-3219)gGc>gAc p.G1073D C4B_ENST00000425700.2_Missense_Mutation_p.G1073D NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1073 D -> G (in allotype C4B1 and allotype C4B3; dbSNP:rs2258218). complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity TTGTCACGGGGCAGCAGCACC 0.617000 4 64 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62390900 62390900 + Missense_Mutation SNP C C G rs139583671 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:62390900C>G ENST00000281156.4 - 9 1296 c.1018G>C c.(1018-1020)Gga>Cga p.G340R RP1-240B8.3_ENST00000511849.2_RNA NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TCCCTGTATCCCCCTCTGGCT 0.493000 10 73 0 0 1 0 0 ACOT13 55856 broad.mit.edu 37 6 24667534 24667534 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:24667534A>G ENST00000230048.4 + 1 236 c.43A>G c.(43-45)Atg>Gtg p.M15V ACOT13_ENST00000537591.1_5'UTR NM_018473.3 NP_060943.1 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 15 protein homotetramerization mitochondrion acyl-CoA thioesterase activity large_intestine(1) 1 GATAAAGGCCATGACCAAGGC 0.512000 OREG0017230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 41 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89861767 89861767 + Silent SNP T T G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:89861767T>G ENST00000287908.3 + 5 1695 c.1302T>G c.(1300-1302)ctT>ctG p.L434L STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394629.2_Silent_p.L434L|STEAP2_ENST00000394621.2_Silent_p.L434L|STEAP2_ENST00000394626.1_Silent_p.L434L|STEAP2_ENST00000394622.2_Silent_p.L434L NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 434 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) ACTTTGTTCTTGCTCTTGTTT 0.353000 24 74 0 0 1 0 0 XKRX 402415 broad.mit.edu 37 X 100177997 100177997 + Missense_Mutation SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:100177997T>A ENST00000328526.5 - 2 993 c.428A>T c.(427-429)gAg>gTg p.E143V XKRX_ENST00000372956.2_Missense_Mutation_p.E130V|XKRX_ENST00000468904.1_Intron NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 130 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 ATAGGGCTCCTCCTGCTCCTC 0.507000 146 255 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158738290 158738290 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:158738290G>T ENST00000407559.3 + 25 3179 c.3021G>T c.(3019-3021)gcG>gcT p.A1007A NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 1007 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CCATGGCTGCGGTGGGTGAGC 0.622000 3 26 0.00909568 0.00919509 1 1 0 LIPE 3991 broad.mit.edu 37 19 42930494 42930494 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:42930494C>T ENST00000244289.4 - 1 1084 c.808G>A c.(808-810)Gtg>Atg p.V270M LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 270 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CCTGACATCACTTTATAACCA 0.488000 34 161 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127519144 127519144 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr10:127519144C>T ENST00000299130.3 + 4 347 c.335C>T c.(334-336)tCa>tTa p.S112L BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Missense_Mutation_p.S112L|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Missense_Mutation_p.S112L NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 112 Interaction with BRCA2. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) ACGGATGTTTCAGAAGACAGC 0.313000 14 123 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65417519 65417519 + Nonsense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:65417519G>T ENST00000394224.3 + 13 3141 c.2845G>T c.(2845-2847)Gag>Tag p.E949* SIPA1_ENST00000394227.3_Nonsense_Mutation_p.E847*|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.E847*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.E949* NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 949 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GCTGTCCCGAGAGGGTGAGGC 0.627000 43 135 1.62957e-23 1.87249e-23 1 1 0 ECT2L 345930 broad.mit.edu 37 6 139206872 139206872 + Missense_Mutation SNP G G A rs79865247 byFrequency TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:139206872G>A ENST00000423192.1 + 17 2325 c.2164G>A c.(2164-2166)Gct>Act p.A722T ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.A722T Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 722 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TCTTCTCTACGCTGTCAGGCT 0.468000 """N, Splice, Mis""" ETP ALL 25 62 0 0 1 0 0 MC1R 4157 broad.mit.edu 37 16 89986164 89986164 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:89986164G>A ENST00000555427.1 + 3 2801 c.498G>A c.(496-498)gcG>gcA p.A166A TUBB3_ENST00000556922.1_Silent_p.A166A|MC1R_ENST00000555147.1_Silent_p.A166A melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GAGCCGTTGCGGCCATCTGGG 0.647000 Melanoma, Familial Clustering of 28 125 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121432043 121432043 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:121432043G>A ENST00000257555.6 + 4 1016 c.790G>A c.(790-792)Gtc>Atc p.V264I HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.V264I|HNF1A_ENST00000544413.1_Missense_Mutation_p.V264I|HNF1A_ENST00000543427.1_Missense_Mutation_p.V147I|HNF1A_ENST00000402929.1_Missense_Mutation_p.V264I|HNF1A_ENST00000541395.1_Missense_Mutation_p.V264I P20823 HNF1A_HUMAN HNF1 homeobox A 264 Interaction with DNA. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGAGGTGCGTGTCTACAACTG 0.647000 Hepatic Adenoma, Familial Clustering of 16 28 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11421068 11421068 + RNA SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:11421068G>A ENST00000381842.3 - 0 152 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGTGGGCGTCGTCCTTCTGGC 0.547000 48 145 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200818427 200818427 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:200818427C>T ENST00000358823.2 + 11 2800 c.2530C>T c.(2530-2532)Cct>Tct p.P844S CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P828S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P855S NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 855 cytoplasm|microtubule protein binding CATGGAGAATCCTCAAGCCAA 0.413000 41 230 0 0 1 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927814 13927814 + RNA SNP A A T rs141406384 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:13927814A>T ENST00000602743.1 - 0 224 TTGGTGGGAGACGCTCAAGAG 0.512000 5 16 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262047 39262047 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:39262047A>G ENST00000391415.1 + 1 464 c.407A>G c.(406-408)aAg>aGg p.K136R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 136 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 agctgctgcaagccccagtgc 0.652000 4 50 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20074734 20074734 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr22:20074734C>T ENST00000351989.3 + 3 1199 c.770C>T c.(769-771)gCc>gTc p.A257V DGCR8_ENST00000407755.1_Missense_Mutation_p.A257V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A257V NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 257 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GGCCTTTGTGCCCCCAAAAAG 0.527000 5 229 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142499875 142499875 + RNA SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:142499875G>A ENST00000466254.1 + 0 492 GCTGGTCAGTGCCCTCGTGCT 0.552000 8 74 0 0 1 0 0 LYG2 254773 broad.mit.edu 37 2 99863255 99863255 + Missense_Mutation SNP A A C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:99863255A>C ENST00000409679.1 - 3 216 c.72T>G c.(70-72)agT>agG p.S24R LYG2_ENST00000333017.2_Missense_Mutation_p.S24R|LYG2_ENST00000409238.1_Missense_Mutation_p.S24R Q86SG7 LYG2_HUMAN lysozyme G-like 2 24 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 TCATTGAGTGACTGAAGGGGT 0.502000 39 127 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59821801 59821801 + Missense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:59821801C>A ENST00000259008.2 - 15 2516 c.2249G>T c.(2248-2250)gGa>gTa p.G750V BRIP1_ENST00000577598.1_Missense_Mutation_p.G750V NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 750 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ACCTTTCTCTCCTTTGTATTT 0.308000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 44 207 4.29476e-34 4.99705e-34 1 1 0 LRP12 29967 broad.mit.edu 37 8 105509897 105509897 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:105509897G>T ENST00000276654.5 - 5 991 c.883C>A c.(883-885)Cgt>Agt p.R295S LRP12_ENST00000424843.2_Missense_Mutation_p.R276S NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 295 CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATGACTTTACGGTGATCACCA 0.358000 10 122 3.86212e-05 4.03668e-05 1 1 0 SRRT 51593 broad.mit.edu 37 7 100479790 100479790 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:100479790A>G ENST00000388793.4 + 5 735 c.515A>G c.(514-516)tAt>tGt p.Y172C SRRT_ENST00000347433.4_Missense_Mutation_p.Y172C|SRRT_ENST00000432932.1_Missense_Mutation_p.Y172C|SRRT_ENST00000457580.2_Missense_Mutation_p.Y172C NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 172 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GTCAAGCGCTATAATGACTAC 0.557000 16 125 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42739102 42739102 + Missense_Mutation SNP C C T rs140686107 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:42739102C>T ENST00000441594.1 - 7 1024 c.763G>A c.(763-765)Gtg>Atg p.V255M HHATL_ENST00000310417.5_Missense_Mutation_p.V255M NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 255 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) ATGGCCACCACGCTTAGGCCT 0.612000 25 172 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89298809 89298809 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:89298809C>T ENST00000370521.3 + 21 3079 c.2720C>T c.(2719-2721)gCa>gTa p.A907V PKN2_ENST00000370505.3_Missense_Mutation_p.A750V|PKN2_ENST00000544045.1_Missense_Mutation_p.A581V|PKN2_ENST00000370513.5_Missense_Mutation_p.A859V|PKN2_ENST00000495119.1_3'UTR NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 907 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GAGAAAGATGCAGAGGATGTA 0.318000 8 42 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193343972 193343972 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:193343972A>G ENST00000361510.2 + 7 1004 c.770A>G c.(769-771)tAt>tGt p.Y257C OPA1_ENST00000361908.3_Missense_Mutation_p.Y239C|OPA1_ENST00000361150.2_Missense_Mutation_p.Y203C|OPA1-AS1_ENST00000444085.1_RNA|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361715.2_Missense_Mutation_p.Y221C|OPA1_ENST00000392438.3_Intron|OPA1_ENST00000487986.1_Intron|OPA1_ENST00000361828.2_Intron NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 206 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AGCACGAGCTATGCCCAACAG 0.493000 30 90 0 0 1 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123130244 123130244 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:123130244G>T ENST00000368440.4 + 8 1230 c.1053G>T c.(1051-1053)ttG>ttT p.L351F SMPDL3A_ENST00000539041.1_Missense_Mutation_p.L220F NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 351 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) AGGATATGTTGCAGTATTACT 0.413000 17 127 5.3912e-06 5.69927e-06 1 1 0 LILRA4 23547 broad.mit.edu 37 19 54848719 54848719 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:54848719A>G ENST00000291759.4 - 5 960 c.904T>C c.(904-906)Tcc>Ccc p.S302P NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 302 Ig-like C2-type 3. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CACTCGGAGGAGACGTTGTGT 0.682000 20 78 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201817629 201817629 + Missense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:201817629C>A ENST00000361565.4 + 4 490 c.421C>A c.(421-423)Cct>Act p.P141T IPO9_ENST00000464348.1_3'UTR NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 141 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CTGGGACTGGCCTGAAGCTTG 0.542000 16 85 2.32078e-09 2.55563e-09 1 1 0 RIOK2 55781 broad.mit.edu 37 5 96518925 96518925 + Silent SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:96518925T>A ENST00000509481.1 + 4 787 c.246T>A c.(244-246)tcT>tcA p.S82S RIOK2_ENST00000283109.3_5'UTR|RIOK2_ENST00000508447.1_5'UTR urinary_tract(1) 1 CAGATGCCTCTCCGACGACAG 0.582000 60 169 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84216583 84216583 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:84216583G>C ENST00000405413.2 - 13 1682 c.1546C>G c.(1546-1548)Ctc>Gtc p.L516V HPSE_ENST00000311412.5_Missense_Mutation_p.L516V|HPSE_ENST00000512196.1_Missense_Mutation_p.L442V|HPSE_ENST00000513463.1_Missense_Mutation_p.L458V NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 516 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CCTGGCCGGAGAGGTTTTTCC 0.403000 15 100 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365191 92365191 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:92365191A>T ENST00000276609.3 + 11 1520 c.1281A>T c.(1279-1281)ttA>ttT p.L427F SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L427F|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L427F NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 427 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TCCGAGATTTAAAAAAATATT 0.328000 15 160 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195595233 195595233 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:195595233G>C ENST00000333602.6 - 12 2508 c.1891C>G c.(1891-1893)Ccc>Gcc p.P631A TNK2_ENST00000428187.1_Missense_Mutation_p.P663A|TNK2_ENST00000392400.1_Missense_Mutation_p.P631A|TNK2_ENST00000381916.2_Missense_Mutation_p.P709A NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 631 Pro-rich.|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GCGGGCGGGGGGGGCAGCGGG 0.726000 17 109 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20843369 20843369 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr22:20843369G>T ENST00000328879.4 - 2 286 c.130C>A c.(130-132)Cgg>Agg p.R44R KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 44 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCGCTGTCCCGGAGAGCCAGC 0.622000 4 157 0.00909568 0.00919509 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 165 0 0 1 0 0 SNRPD2 6633 broad.mit.edu 37 19 46191786 46191786 + Missense_Mutation SNP T T G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:46191786T>G ENST00000342669.3 - 2 485 c.41A>C c.(40-42)gAg>gCg p.E14A SNRPD2_ENST00000590212.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E4A|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E4A NM_004597.5 NP_004588.1 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 14 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) CTGCAGCTCCTCTGGGGTCAT 0.532000 25 188 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37788586 37788586 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr21:37788586C>T ENST00000314103.4 + 14 1753 c.1602C>T c.(1600-1602)gaC>gaT p.D534D NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 534 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CGCCTGGAGACGCTCAGGGCA 0.507000 9 62 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255327 140255327 + Silent SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:140255327C>A ENST00000398631.2 + 1 270 c.270C>A c.(268-270)atC>atA p.I90I PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGA 0.597000 65 408 1.1794e-34 1.38095e-34 1 1 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 3 44 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811134 123811134 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:123811134G>A ENST00000307033.2 + 1 885 c.811G>A c.(811-813)Gtc>Atc p.V271I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V271I(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGACAAGGCCGTCTCTGTGCT 0.493000 45 97 0 0 1 0 0 MARCH3 115123 broad.mit.edu 37 5 126250611 126250611 + Nonsense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:126250611C>T ENST00000515241.1 - 2 460 c.404G>A c.(403-405)tGg>tAg p.W135* MARCH3_ENST00000308660.5_Intron Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 76 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) GGACGTGCCCCACTTACTGAC 0.493000 16 72 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 23 0.00909568 0.00919509 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73725497 73725497 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:73725497C>T ENST00000200181.3 + 7 905 c.718C>T c.(718-720)Ctg>Ttg p.L240L ITGB4_ENST00000449880.2_Silent_p.L240L|ITGB4_ENST00000339591.3_Silent_p.L240L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L240L|ITGB4_ENST00000450894.3_Silent_p.L240L NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 240 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGATGCCATCCTGCAGACAGC 0.622000 23 48 0 0 1 0 0 TNMD 64102 broad.mit.edu 37 X 99852545 99852545 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:99852545G>C ENST00000373031.4 + 5 685 c.468G>C c.(466-468)tgG>tgC p.W156C NM_022144.2 NP_071427.2 Q9H2S6 TNMD_HUMAN tenomodulin 156 BRICHOS. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 CAGTGATTTGGGTCCCAGCAG 0.373000 19 166 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114119 147114119 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:147114119C>G ENST00000383075.3 - 3 720 c.208G>C c.(208-210)Gac>Cac p.D70H ZIC4_ENST00000473123.1_Missense_Mutation_p.D70H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D108H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.D70H|ZIC4_ENST00000525172.2_Missense_Mutation_p.D120H NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 70 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GCGTACATGTCTCCAGGGAGC 0.726000 15 30 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 208 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33091954 33091954 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr13:33091954G>T ENST00000267068.3 - 6 1901 c.1737C>A c.(1735-1737)gtC>gtA p.V579V N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 579 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GATTATTTGTGACACAGACAC 0.413000 14 76 6.31663e-08 6.79405e-08 1 1 0 ACACA 31 broad.mit.edu 37 17 35600294 35600294 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:35600294C>T ENST00000353139.5 - 22 3405 c.2924G>A c.(2923-2925)aGc>aAc p.S975N ACACA_ENST00000360679.3_Missense_Mutation_p.S880N|ACACA_ENST00000394406.2_Missense_Mutation_p.S938N|ACACA_ENST00000335166.5_Missense_Mutation_p.S860N NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 938 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TACCTGCTGGCTGGGAAACTG 0.428000 29 220 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145001198 145001198 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:145001198A>T ENST00000322810.4 - 29 4472 c.4303T>A c.(4303-4305)Tcc>Acc p.S1435T PLEC_ENST00000354589.3_Missense_Mutation_p.S1298T|PLEC_ENST00000398774.2_Missense_Mutation_p.S1266T|PLEC_ENST00000527096.1_Missense_Mutation_p.S1321T|PLEC_ENST00000354958.2_Missense_Mutation_p.S1276T|PLEC_ENST00000345136.3_Missense_Mutation_p.S1298T|PLEC_ENST00000356346.3_Missense_Mutation_p.S1284T|PLEC_ENST00000436759.2_Missense_Mutation_p.S1325T|PLEC_ENST00000357649.2_Missense_Mutation_p.S1302T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1435 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTGGCCGGGGAGGCCACCGGC 0.642000 21 97 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080223 57080223 + Nonsense_Mutation SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:57080223C>A ENST00000532437.1 - 4 2250 c.1939G>T c.(1939-1941)Gag>Tag p.E647* TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E647* Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 647 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GCCTCCTCCTCAACAGGCAGT 0.647000 21 75 0.000132079 0.000137273 1 1 0 BRWD1 54014 broad.mit.edu 37 21 40650700 40650700 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr21:40650700G>A ENST00000342449.3 - 10 1050 c.972C>T c.(970-972)ggC>ggT p.G324G BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000333229.2_Silent_p.G324G NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GCATTTGAACGCCTGGCCTAG 0.333000 42 115 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18923025 18923025 + Splice_Site SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:18923025G>A ENST00000317977.6 + 13 1891 c.e13-1 SLC5A10_ENST00000395645.3_Splice_Site|SLC5A10_ENST00000395642.1_Splice_Site|SLC5A10_ENST00000395643.2_Splice_Site|SLC5A10_ENST00000417251.2_Splice_Site|SLC5A10_ENST00000395647.2_Splice_Site A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 CTCCTCCCCAGGGGGCCTTCT 0.682000 4 41 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697544 17697544 + Silent SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:17697544A>G ENST00000399080.2 - 1 2162 c.2139T>C c.(2137-2139)tgT>tgC p.C713C NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 713 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTGTTGAGGACAACTCATAT 0.323000 18 91 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 9 27 0 0 1 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042502 59042502 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:59042502G>A ENST00000371225.2 - 1 664 c.327C>T c.(325-327)gaC>gaT p.D109D NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 109 Thyroglobulin type-1. cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) GGCCCTCGGGGTCGCAGTCGG 0.701000 15 26 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:178098945G>C ENST00000397062.3 - 2 654 c.100C>G c.(100-102)Cga>Gga p.R34G NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R34G(4) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AATACTTCTCGACTTACTCCA 0.368000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 37 72 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054997 4054997 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:4054997G>C ENST00000322357.4 - 2 512 c.234C>G c.(232-234)gaC>gaG p.D78E ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D78E NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 78 BTB. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTGACGAAGTCGATCTCGT 0.662000 13 69 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012967 73012967 + Missense_Mutation SNP T T A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:73012967T>A ENST00000308744.6 + 4 1105 c.1007T>A c.(1006-1008)cTc>cAc p.L336H NPFFR2_ENST00000358749.3_Missense_Mutation_p.L234H|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L237H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 336 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CCCCTCTCCCTCATTGTCATC 0.527000 12 79 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107909817 107909817 + Silent SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:107909817T>C ENST00000328300.6 + 39 3790 c.3546T>C c.(3544-3546)ggT>ggC p.G1182G COL4A5_ENST00000361603.2_Silent_p.G1182G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1182 Triple-helical region. G -> R (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GACAGAAGGGTGAACCAGGTG 0.428000 Alport syndrome with Diffuse Leiomyomatosis 13 28 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100553050 100553050 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr7:100553050G>A ENST00000319509.7 + 2 1695 c.1695G>A c.(1693-1695)gtG>gtA p.V565V mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AGTTTGCTGTGGAACAGGTGG 0.567000 9 118 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45293182 45293182 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:45293182C>T ENST00000447098.2 - 15 2274 c.2263G>A c.(2263-2265)Gcc>Acc p.A755T PTCH2_ENST00000372192.3_Missense_Mutation_p.A755T NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 755 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TCAAAGAGGGCGCGTTGGGAG 0.642000 Basal Cell Nevus syndrome 28 76 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120214570 120214570 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:120214570C>T ENST00000392521.2 - 14 1797 c.1742G>A c.(1741-1743)cGg>cAg p.R581Q CIT_ENST00000261833.7_Missense_Mutation_p.R581Q|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 581 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GAGATCACTCCGTCTTCTTGC 0.448000 76 135 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15415841 15415841 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:15415841G>A ENST00000281513.5 - 44 5516 c.5491C>T c.(5491-5493)Ccc>Tcc p.P1831S NBAS_ENST00000441750.1_Missense_Mutation_p.P1711S NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1831 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GGGATTTTGGGAACAAGTTTG 0.403000 15 88 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65104673 65104673 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:65104673C>T ENST00000358691.5 - 30 4825 c.4659G>A c.(4657-4659)ccG>ccA p.P1553P HELZ_ENST00000580168.1_Silent_p.P1554P NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCCTCACTGGCGGCTGATGTA 0.562000 12 126 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162463813 162463813 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr4:162463813G>T ENST00000306100.5 - 9 1484 c.1048C>A c.(1048-1050)Cag>Aag p.Q350K FSTL5_ENST00000536695.1_Missense_Mutation_p.Q349K|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q349K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q349K NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 350 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTCTAGCCTGACTCTCTGGA 0.418000 14 103 2.32078e-09 2.55563e-09 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248685642 248685642 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:248685642C>T ENST00000343414.4 + 1 727 c.695C>T c.(694-696)gCg>gTg p.A232V NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAATCAGCTGCGGGCCGCCAA 0.468000 51 155 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45459775 45459775 + Silent SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:45459775C>A ENST00000371438.1 + 5 1141 c.783C>A c.(781-783)gtC>gtA p.V261V RUNX2_ENST00000541979.1_Silent_p.V329V|RUNX2_ENST00000371432.3_Silent_p.V247V|RUNX2_ENST00000465038.2_Silent_p.V261V|RUNX2_ENST00000352853.5_Silent_p.V329V|RUNX2_ENST00000359524.5_Silent_p.V247V|RUNX2_ENST00000576263.1_Silent_p.V261V|RUNX2_ENST00000371436.6_Silent_p.V261V NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 261 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GAGTAGGTGTCCCGCCTCAGA 0.502000 20 176 5.35267e-07 5.72395e-07 1 1 0 KLHL24 54800 broad.mit.edu 37 3 183381264 183381264 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:183381264G>A ENST00000454652.1 + 5 1325 c.939G>A c.(937-939)gaG>gaA p.E313E KLHL24_ENST00000242810.6_Silent_p.E313E|KLHL24_ENST00000476808.1_Silent_p.E313E Q6TFL4 KLH24_HUMAN kelch-like family member 24 313 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GCTATTCTGAGGTGATAGTTG 0.338000 45 149 0 0 1 0 0 BSPRY 54836 broad.mit.edu 37 9 116130642 116130642 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:116130642G>A ENST00000374183.4 + 5 700 c.661G>A c.(661-663)Gcg>Acg p.A221T BSPRY_ENST00000462085.1_Intron NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 221 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CTGGGCAACGGCGGTTCTTGG 0.527000 22 176 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25436628 25436628 + RNA SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr15:25436628G>T ENST00000424208.1 + 0 1092 SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA NR_003305.1 ATGCTCAATAGGATTACGCTG 0.507000 83 609 8.45e-40 9.95701e-40 1 1 0 HOXD10 3236 broad.mit.edu 37 2 176982019 176982019 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:176982019G>C ENST00000249501.4 + 1 713 c.458G>C c.(457-459)aGa>aCa p.R153T HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 153 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GGATATTTTAGACTGAGTCAG 0.572000 5 353 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23406115 23406115 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr22:23406115G>A ENST00000216036.4 - 5 814 c.618C>T c.(616-618)atC>atT p.I206I NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 206 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CCTTGCTGCGGATGTTCTGGT 0.622000 12 136 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 58 0 0 1 0 0 SLC25A32 81034 broad.mit.edu 37 8 104419953 104419953 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:104419953T>C ENST00000297578.4 - 2 380 c.214A>G c.(214-216)Att>Gtt p.I72V SLC25A32_ENST00000543107.1_5'UTR NM_030780.3 NP_110407.2 Q9H2D1 MFTC_HUMAN solute carrier family 25 (mitochondrial folate carrier), member 32 72 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 9 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) AGTTTCCAAATGGTAGTCAAG 0.408000 32 240 0 0 1 0 0 FXYD5 53827 broad.mit.edu 37 19 35657174 35657174 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:35657174C>T ENST00000342879.3 + 7 1211 c.433C>T c.(433-435)Cgg>Tgg p.R145W FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 145 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTCCGGAAACGGGGGCTGTT 0.552000 85 417 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219279 134219279 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr10:134219279C>G ENST00000305233.5 + 2 1334 c.1275C>G c.(1273-1275)agC>agG p.S425R PWWP2B_ENST00000368609.4_Missense_Mutation_p.S425R NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 425 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CGTGCAGCAGCGACAGCCTGG 0.692000 10 89 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20082194 20082194 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:20082194C>T ENST00000263754.4 + 1 680 c.225C>T c.(223-225)atC>atT p.I75I KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 75 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CGGCCCGAATCGCCGTGAAGA 0.721000 10 19 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11134270 11134270 + Missense_Mutation SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:11134270G>A ENST00000358026.2 + 20 3220 c.2936G>A c.(2935-2937)cGa>cAa p.R979Q SMARCA4_ENST00000429416.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R979Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R979Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R979Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R979Q NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 979 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) TTGCTCCGACGACTCAAGAAG 0.577000 """F, N, Mis""" NSCLC 12 29 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114397603 114397603 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:114397603G>A ENST00000359785.5 - 8 744 c.609C>T c.(607-609)gaC>gaT p.D203D PTPN22_ENST00000528414.1_Silent_p.D203D|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.D203D|PTPN22_ENST00000538253.1_Intron NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 203 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAGAATAGGGTCTATAGATG 0.413000 44 136 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231829916 231829916 + Translation_Start_Site SNP C C A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:231829916C>A ENST00000366637.3 + 0 465 DISC1_ENST00000317586.4_Missense_Mutation_p.P138T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.P138T|DISC1_ENST00000366633.3_Missense_Mutation_p.P138T|DISC1_ENST00000537876.1_Missense_Mutation_p.P138T|DISC1_ENST00000539444.1_Missense_Mutation_p.P138T|DISC1_ENST00000366636.4_Missense_Mutation_p.P138T|DISC1_ENST00000535983.1_Missense_Mutation_p.P138T|DISC1_ENST00000602281.1_Missense_Mutation_p.P138T|DISC1_ENST00000602873.1_Intron NM_001012957.1 NP_001012975.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GCCGTGTGGCCCTGGGAGTGC 0.612000 35 59 2.80507e-11 3.12613e-11 1 1 0 OR2T12 127064 broad.mit.edu 37 1 248458349 248458349 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:248458349C>T ENST00000317996.1 - 1 531 c.532G>A c.(532-534)Gag>Aag p.E178K NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E178*(1)|p.E178K(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ACGGGGGCCTCGCAGAAGAAG 0.567000 40 145 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108716285 108716285 + Missense_Mutation SNP C C G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr10:108716285C>G ENST00000263054.6 - 2 619 c.612G>C c.(610-612)gaG>gaC p.E204D SORCS1_ENST00000344440.6_Missense_Mutation_p.E204D NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 204 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAAGCGAGCTCTCTGTGATGC 0.418000 35 54 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128089 117128089 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:117128089C>T ENST00000310357.3 - 3 800 c.779G>A c.(778-780)cGg>cAg p.R260Q GPRC6A_ENST00000530250.1_Missense_Mutation_p.R260Q|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R260Q NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 260 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTTCAGTGTCCGATTGATTCT 0.363000 14 125 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18923032 18923032 + Missense_Mutation SNP T T C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:18923032T>C ENST00000317977.6 + 13 1898 c.1327T>C c.(1327-1329)Ttc>Ctc p.F443L SLC5A10_ENST00000395645.3_Missense_Mutation_p.F473L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.F443L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.F446L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.F437L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.F489L A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 473 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 CCAGGGGGCCTTCTGGGGCCT 0.687000 4 42 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47333995 47333995 + Missense_Mutation SNP A A C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr21:47333995A>C ENST00000400304.1 + 7 635 c.635A>C c.(634-636)cAc>cCc p.H212P PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 225 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTACTGCAGCACCCGCCGCTG 0.627000 15 35 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6753641 6753641 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:6753641C>T ENST00000229243.2 - 5 699 c.606G>A c.(604-606)gaG>gaA p.E202E ACRBP_ENST00000536350.1_Silent_p.E202E|ACRBP_ENST00000414226.2_Silent_p.E169E NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 202 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 CCTGCCTGTGCTCCACTCCTT 0.567000 41 172 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57602910 57602910 + Missense_Mutation SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:57602910G>T ENST00000243077.3 + 79 12656 c.12190G>T c.(12190-12192)Gcc>Tcc p.A4064S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4064 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGGGCAGACGCCAAGCTTTC 0.617000 19 88 0.00188189 0.00193417 1 1 0 CNOT8 9337 broad.mit.edu 37 5 154250226 154250226 + Missense_Mutation SNP A A G TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr5:154250226A>G ENST00000517876.1 + 5 793 c.317A>G c.(316-318)gAc>gGc p.D106G CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 106 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTTAGAGAGGACATGTACTCC 0.393000 37 110 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22163405 22163405 + Silent SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:22163405G>C ENST00000374695.3 - 75 10324 c.10245C>G c.(10243-10245)gcC>gcG p.A3415A NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3415 Ig-like C2-type 20. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACTCAACGCTGGCCCCAATGC 0.667000 3 8 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37129598 37129598 + Missense_Mutation SNP A A T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:37129598A>T ENST00000588268.1 - 6 1876 c.1649T>A c.(1648-1650)gTc>gAc p.V550D ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.V527D NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGGAAACCTGACTGGCTTCTC 0.378000 7 44 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84585990 84585990 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:84585990G>A ENST00000262753.4 - 7 964 c.819C>T c.(817-819)caC>caT p.H273H POF1B_ENST00000373145.3_Silent_p.H273H NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 273 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CTAATAAGCAGTGATATAGAT 0.378000 36 99 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44060805 44060805 + Missense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:44060805C>T ENST00000344290.5 + 6 957 c.635C>T c.(634-636)cCg>cTg p.P212L MAPT_ENST00000420682.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P212L|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000574436.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 212 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AAAGAGAGGCCGGGGAGCAAG 0.692000 14 44 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043080 153043080 + Nonsense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:153043080C>T ENST00000367245.5 + 2 408 c.400C>T c.(400-402)Cga>Tga p.R134* MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 134 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CTGTGAACGTCGAAGCAACCT 0.498000 53 142 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61505662 61505662 + Nonsense_Mutation SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:61505662C>T ENST00000257215.5 + 16 1755 c.1639C>T c.(1639-1641)Cga>Tga p.R547* NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 547 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGTCCTGCAGCGAAGCACCAA 0.642000 19 60 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 17 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 9 159 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 12 396 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120458389 120458389 + Frame_Shift_Del DEL G G - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:120458389delG ENST00000256646.2 - 34 7175 c.6956delC c.(6955-6957)ggfs p.A2319fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2319 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) GGGAGCCCCCGCTGGTTGGGC 0.622 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 16 165 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 155 --- --- --- --- GNPAT 8443 broad.mit.edu 37 1 231396328 231396330 + In_Frame_Del DEL AAA AAA - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr1:231396328_231396330delAAA ENST00000366647.4 + 3 506_508 c.337_339delAAA c.(337-339)del p.K113del GNPAT_ENST00000366646.3_In_Frame_Del_p.K52del NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 113 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) AATGAGTCACAAACTGCGTCTTG 0.414 71 583 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179395925 179395925 + Frame_Shift_Del DEL G G - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:179395925delG ENST00000589042.1 - 358 105641 c.105417delC c.(105415-105417)acfs p.T35139fs TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T33498fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T32571fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.T26199fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.T26074fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T26266fs|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33498 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCGTAGACGGTCATGGACC 0.483 88 370 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 7 245 --- --- --- --- RP11-553L6.2 0 broad.mit.edu 37 3 113951739 113951739 + RNA DEL C C - rs75864387 TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr3:113951739delC ENST00000493033.1 + 0 160 RP11-553L6.2_ENST00000481773.1_RNA CTGCCCCCTGCCCCCCCCCCA 0.652 5 1 --- --- --- --- IMPG1 3617 broad.mit.edu 37 6 76715077 76715086 + Frame_Shift_Del DEL GTCTGTAGCT GTCTGTAGCT - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr6:76715077_76715086delGTCTGTAGCT ENST00000369950.3 - 10 1242_1251 c.1053_1062delAGCTACAGAC c.(1051-1062)acfs p.TATD351fs IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 351 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.D354A(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GCCTTTTGAGGTCTGTAGCTGTGAGATAGA 0.429 7 155 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 667 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 143 --- --- --- --- DEFB108B 245911 broad.mit.edu 37 11 71548597 71548597 + Frame_Shift_Del DEL A A - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr11:71548597delA ENST00000328698.1 + 2 211 c.211delA c.(211-213)aafs p.K72fs DEFB108B_ENST00000529157.1_3'UTR NM_001002035.1 NP_001002035.1 Q8NET1 D108B_HUMAN defensin, beta 108B 72 defense response to bacterium extracellular region endometrium(1)|kidney(1)|lung(2)|skin(1) 5 CACTACACCCAAAAAGGACTG 0.458 7 1731 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 8 266 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 11 268 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 1377 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 14 1718 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493648 77493650 + In_Frame_Del DEL GCG GCG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr14:77493648_77493650delGCG ENST00000238647.3 - 1 1384_1386 c.486_488delCGC c.(484-489)gct>gc p.AA162del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 162 Poly-Ala. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TTCCACCgcagcggcggcggcgg 0.749 7 20 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 7 216 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 7 136 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 10 88 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 7 163 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 9 239 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 9 203 --- --- --- --- MATN4 8785 broad.mit.edu 37 20 43926821 43926822 + Frame_Shift_Del DEL GC GC - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr20:43926821_43926822delGC ENST00000537548.1 - 8 1658_1659 c.1414_1415delGC c.(1414-1416)cfs p.A472fs MATN4_ENST00000372751.4_Frame_Shift_Del_p.A323fs|MATN4_ENST00000372756.1_Frame_Shift_Del_p.A472fs|MATN4_ENST00000372754.1_Frame_Shift_Del_p.A513fs|MATN4_ENST00000353917.5_Frame_Shift_Del_p.A390fs|MATN4_ENST00000342716.4_Frame_Shift_Del_p.A472fs|MATN4_ENST00000360607.5_Frame_Shift_Del_p.A431fs|MATN4_ENST00000372753.1_Frame_Shift_Del_p.A323fs O95460 MATN4_HUMAN matrilin 4 513 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TTCCTCCTTGGCGCGCGCTGCC 0.683 21 165 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 941 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 7 319 --- --- --- --- OPHN1 4983 broad.mit.edu 37 X 67433776 67433777 + Frame_Shift_Ins INS - - A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:67433776_67433777insA ENST00000355520.5 - 7 1165_1166 c.524_525insT c.(523-525)tgafs p.*175fs OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.*175fs NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 175 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 GAGAGGACTCGAAAAAATTGTG 0.381 8 49 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 15 549 --- --- --- --- FAM58A 92002 broad.mit.edu 37 X 152864477 152864478 + Splice_Site INS - - C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 203629ed-2791-4e22-a9da-be647b0cdef5 62ea230c-402e-4a2d-b617-f909b4fad7d7 g.chrX:152864477_152864478insC ENST00000406277.2 - 2 152_153 c.51_splice c.e2+1 p.A17_splice FAM58A_ENST00000370175.4_5'UTR NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A 18 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGCCGGCTGCCCTCCGGGCC 0.782 7 8 --- --- --- ---