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 CTCF 10664 broad.mit.edu 37 16 67660529 67660529 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:67660529C>T ENST00000264010.4 + 8 1873 c.1429C>T c.(1429-1431)Cat>Tat p.H477Y CTCF_ENST00000401394.1_Missense_Mutation_p.H149Y NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 477 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TGCTGTGTTTCATGAGCGCTA 0.463000 11 48 0 0 0.000673444 0 0 BLVRA 644 broad.mit.edu 37 7 43843400 43843400 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:43843400G>C ENST00000402924.1 + 8 749 c.586G>C c.(586-588)Gat>Cat p.D196H BLVRA_ENST00000265523.4_Missense_Mutation_p.D196H NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 196 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) GCGAAAGGAAGATCAGTATAT 0.478000 28 145 0 0 0.00127121 0 0 SPACA7 122258 broad.mit.edu 37 13 113030784 113030784 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr13:113030784G>A ENST00000283550.3 + 1 152 c.85G>A c.(85-87)Gtg>Atg p.V29M NM_145248.4 NP_660291.2 Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 29 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 GCCGAGAACCGTGATTCCAGG 0.592000 17 10 0 0 0.00074312 0 0 GYS2 2998 broad.mit.edu 37 12 21693480 21693480 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:21693480C>T ENST00000261195.2 - 14 1927 c.1673G>A c.(1672-1674)cGt>cAt p.R558H NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 558 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATCTGGAGAACGGAACCGCCT 0.418000 16 101 0 0 0.000566183 0 0 DTNA 1837 broad.mit.edu 37 18 32457760 32457760 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr18:32457760G>C ENST00000283365.9 + 18 2080 c.1729G>C c.(1729-1731)Gag>Cag p.E577Q DTNA_ENST00000598142.1_Missense_Mutation_p.E577Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E343Q|DTNA_ENST00000590831.2_Missense_Mutation_p.E60Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E581Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E574Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E282Q|DTNA_ENST00000591182.1_Missense_Mutation_p.E282Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E574Q|DTNA_ENST00000601125.1_Missense_Mutation_p.E256Q|DTNA_ENST00000399113.3_Missense_Mutation_p.E634Q|DTNA_ENST00000269190.7_Missense_Mutation_p.E635Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E634Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E286Q NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 634 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TCTTGTGAAAGAGCTGAATTC 0.423000 6 27 0 0 0.00198382 0 0 DES 1674 broad.mit.edu 37 2 220286275 220286275 + Nonsense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:220286275G>T ENST00000373960.3 + 6 1323 c.1237G>T c.(1237-1239)Gag>Tag p.E413* NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 413 Tail. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GGAGGGAGAGGAGAGCCGGTG 0.622000 14 44 7.93312e-07 2.92947e-06 0.00244969 1 0 DPP4 1803 broad.mit.edu 37 2 162902113 162902113 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:162902113C>G ENST00000360534.3 - 5 855 c.295G>C c.(295-297)Gga>Cga p.G99R NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 99 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) ATAGAATGTCCAAACTCATCC 0.343000 12 46 0 0 0.00185496 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993068 96993068 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:96993068G>C ENST00000361124.4 + 1 1134 c.723G>C c.(721-723)caG>caC p.Q241H ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q233H|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q225H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q225H NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 233 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATGAGACCCAGAAATTTGATA 0.612000 18 48 0 0 0.00152264 0 0 KLHL26 55295 broad.mit.edu 37 19 18778789 18778789 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:18778789G>C ENST00000300976.4 + 3 672 c.582G>C c.(580-582)caG>caC p.Q194H KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 194 BACK. breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 ACTTCCTGCAGATCGCCGAGG 0.637000 9 50 0 0 0.000274275 0 0 C8A 731 broad.mit.edu 37 1 57378266 57378266 + Missense_Mutation SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:57378266T>G ENST00000361249.3 + 10 1667 c.1571T>G c.(1570-1572)tTg>tGg p.L524W NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 524 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CTGGGTAGCTTGGGTGCTGCC 0.592000 11 82 0 0 0.00136819 0 0 MSR1 4481 broad.mit.edu 37 8 16026358 16026358 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr8:16026358G>A ENST00000350896.3 - 4 436 c.239C>T c.(238-240)aCg>aTg p.T80M MSR1_ENST00000355282.2_Missense_Mutation_p.T80M|MSR1_ENST00000445506.2_Missense_Mutation_p.T98M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.T80M|MSR1_ENST00000381998.4_Missense_Mutation_p.T80M NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 80 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GCAATTCTTCGTTTCCCACTT 0.383000 30 40 0 0 0.00127121 0 0 ETV3L 440695 broad.mit.edu 37 1 157062482 157062482 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:157062482G>C ENST00000454449.2 - 5 1329 c.1045C>G c.(1045-1047)Ctg>Gtg p.L349V NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 349 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) AGGTTCTCCAGATTGGGGGAA 0.562000 5 53 0 0 0.00116845 0 0 CDH13 1012 broad.mit.edu 37 16 83159053 83159053 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:83159053C>T ENST00000566620.1 + 4 720 c.430C>T c.(430-432)Ccc>Tcc p.P144S CDH13_ENST00000268613.10_Missense_Mutation_p.P191S|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000431540.3_Missense_Mutation_p.P144S|CDH13_ENST00000565636.1_Missense_Mutation_p.P144S|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000446376.2_Missense_Mutation_p.P144S NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 144 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGTGGTATCTCCCATTTTAAT 0.363000 14 28 0 0 0.00316338 0 0 UNC13B 10497 broad.mit.edu 37 9 35380621 35380621 + Missense_Mutation SNP G G A rs138199360 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr9:35380621G>A ENST00000378495.3 + 17 2335 c.2113G>A c.(2113-2115)Gtc>Atc p.V705I UNC13B_ENST00000378496.4_Missense_Mutation_p.V705I|UNC13B_ENST00000396787.1_Missense_Mutation_p.V717I NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 705 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity p.V705I(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CGAGATGGACGTCTGGTACAA 0.493000 22 62 0 0 0.00229938 0 0 C2orf16 84226 broad.mit.edu 37 2 27803074 27803074 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:27803074C>T ENST00000408964.2 + 1 3686 c.3635C>T c.(3634-3636)aCt>aTt p.T1212I NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1212 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AAGAGTCCTACTTCCACAATA 0.468000 20 107 0 0 0.00152264 0 0 MMRN1 22915 broad.mit.edu 37 4 90857719 90857719 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:90857719T>C ENST00000394980.1 + 7 3207 c.2888T>C c.(2887-2889)cTa>cCa p.L963P MMRN1_ENST00000508372.1_Missense_Mutation_p.L705P|MMRN1_ENST00000264790.2_Missense_Mutation_p.L963P|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 963 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CAGAAAGGTCTAACAGAATTT 0.378000 18 37 0 0 0.00074312 0 0 CCDC110 256309 broad.mit.edu 37 4 186382220 186382220 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:186382220G>A ENST00000307588.3 - 5 406 c.331C>T c.(331-333)Cgc>Tgc p.R111C CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 111 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTTCAATGCGCGTGCCAAAC 0.338000 20 95 0 0 0.000958276 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479236 55479236 + Silent SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:55479236A>G ENST00000342972.1 + 1 699 c.429A>G c.(427-429)agA>agG p.R143R NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 143 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 TTGTGCGCAGAGGGTACCTGA 0.532000 18 60 0 0 0.000958276 0 0 XKRX 402415 broad.mit.edu 37 X 100183244 100183244 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:100183244G>A ENST00000328526.5 - 1 654 c.89C>T c.(88-90)tCa>tTa p.S30L XKRX_ENST00000372956.2_Missense_Mutation_p.S17L|XKRX_ENST00000468904.1_Missense_Mutation_p.S17L NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 17 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 CTCCAGAGATGAAACCGGATC 0.468000 67 182 0 0 0.00361006 0 0 NSUN5 55695 broad.mit.edu 37 7 72717906 72717906 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:72717906G>A ENST00000428206.1 - 8 961 c.948C>T c.(946-948)ctC>ctT p.L316L NSUN5_ENST00000438747.2_Silent_p.L354L|NSUN5_ENST00000252594.6_Silent_p.L354L|NSUN5_ENST00000310326.8_Silent_p.L354L NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 354 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) TGGAGTAGACGAGCCGCTGCA 0.677000 7 19 0 0 0.00198382 0 0 RBP2 5948 broad.mit.edu 37 3 139173605 139173605 + Nonsense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:139173605C>T ENST00000232217.2 - 3 376 c.320G>A c.(319-321)tGg>tAg p.W107* RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 107 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) CCACTGCTTCCAGCCGCGGTT 0.532000 31 160 0 0 0.0024448 0 0 CAMKK2 10645 broad.mit.edu 37 12 121691083 121691083 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:121691083G>C ENST00000324774.5 - 10 1928 c.1100C>G c.(1099-1101)tCt>tGt p.S367C CAMKK2_ENST00000545538.1_Missense_Mutation_p.S154C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S367C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S367C|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000535524.1_5'UTR NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 367 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TACCTTCCCAGAGAAGATCTT 0.562000 4 56 0 0 0.00024832 0 0 SNHG14 104472715 broad.mit.edu 37 15 25456986 25456986 + RNA SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:25456986G>A ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-23_ENST00000364461.1_RNA NR_003305.1 GAGAGGTGATGACTTAAAATT 0.532000 37 222 0 0 0.00128727 0 0 EHMT2 10919 broad.mit.edu 37 6 31860266 31860266 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:31860266T>C ENST00000395728.3 - 6 952 c.953A>G c.(952-954)gAg>gGg p.E318G EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.E261G|EHMT2_ENST00000375537.4_Missense_Mutation_p.E261G|EHMT2_ENST00000375528.4_Missense_Mutation_p.E318G Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 261 Poly-Glu. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CGTCTCCCACTCCTCCAGGGA 0.547000 15 61 0 0 0.00244969 0 0 HIF3A 64344 broad.mit.edu 37 19 46808523 46808523 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:46808523C>G ENST00000339613.2 + 3 326 c.71C>G c.(70-72)gCa>gGa p.A24G HIF3A_ENST00000300862.3_Missense_Mutation_p.A78G|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.A80G Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CAGGTGGGAGCAGGGGGAGAA 0.617000 18 81 0 0 0.000958276 0 0 ALPK1 80216 broad.mit.edu 37 4 113353568 113353568 + Silent SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:113353568G>C ENST00000458497.1 + 11 3144 c.2865G>C c.(2863-2865)ggG>ggC p.G955G ALPK1_ENST00000177648.9_Silent_p.G955G|ALPK1_ENST00000504176.2_Silent_p.G877G NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 955 Ser-rich. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ATTCCAGTGGGAGTTCTTGGG 0.512000 13 68 0 0 0.00185496 0 0 MANEA 79694 broad.mit.edu 37 6 96052716 96052716 + Missense_Mutation SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:96052716T>G ENST00000358812.4 + 4 802 c.668T>G c.(667-669)aTa>aGa p.I223R MANEA_ENST00000474553.1_3'UTR NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 223 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ACTTTTCACATAGAACCATAT 0.224000 3 15 0 0 0.00024832 0 0 UNC13A 23025 broad.mit.edu 37 19 17737530 17737530 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:17737530T>C ENST00000428389.2 - 35 4248 c.4249A>G c.(4249-4251)Aca>Gca p.T1417A UNC13A_ENST00000519716.2_Missense_Mutation_p.T1329A|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1329A|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1327A|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1329A|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1329A Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1329 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 ACATTGCCTGTGCCCTTAACC 0.592000 8 12 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179424503 179424503 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:179424503C>G ENST00000589042.1 - 326 86580 c.86356G>C c.(86356-86358)Gtc>Ctc p.V28786L TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19846L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26218L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19913L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19721L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27145L|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27145 Fibronectin type-III 110. 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) CTCCACAAGACATTGGGTACT 0.438000 38 93 0 0 0.00428921 0 0 GPR112 139378 broad.mit.edu 37 X 135431895 135431895 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:135431895C>G ENST00000394143.1 + 6 6321 c.6030C>G c.(6028-6030)ctC>ctG p.L2010L GPR112_ENST00000412101.1_Silent_p.L1805L|GPR112_ENST00000394141.1_Silent_p.L1805L|GPR112_ENST00000370652.1_Silent_p.L2010L|GPR112_ENST00000287534.4_Silent_p.L1947L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2010 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGACATGGCTCTTATCTAGTC 0.453000 19 138 0 0 0.00074312 0 0 AIRE 326 broad.mit.edu 37 21 45709685 45709685 + Splice_Site SNP C C T rs41277550 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:45709685C>T ENST00000291582.5 + 6 925 c.798_splice c.e6+1 p.P266_splice NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 266 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GCGCTGCCCCCGTAAGCACCT 0.682000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 18 34 0 0 0.00074312 0 0 HOXA1 3198 broad.mit.edu 37 7 27134145 27134145 + Missense_Mutation SNP C C T rs41311760 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:27134145C>T ENST00000343060.4 - 2 983 c.922G>A c.(922-924)Gag>Aag p.E308K HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 308 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GAGGATTCCTCGGCCTTCTCG 0.597000 11 47 0 0 0.000673444 0 0 EIF4G3 8672 broad.mit.edu 37 1 21186878 21186878 + Splice_Site SNP C C A rs10916883 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:21186878C>A ENST00000602326.1 - 22 3677 c.3094_splice c.e22+1 p.G1032_splice EIF4G3_ENST00000537738.1_Splice_Site_p.G516_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.G1026_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.G746_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.G630_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.G1032_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.G1026_splice NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1026 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CCGGCCTCACCTGGTCTTCTC 0.393000 39 108 2.47872e-24 1.01585e-23 0.0025221 1 0 SBDS 51119 broad.mit.edu 37 7 66456261 66456261 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:66456261C>G ENST00000246868.2 - 4 670 c.487G>C c.(487-489)Gag>Cag p.E163Q NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 163 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 TTCATTTTCTCTTTTAACTGC 0.368000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 8 26 0 0 0.000442599 0 0 KRT23 25984 broad.mit.edu 37 17 39086308 39086308 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:39086308C>G ENST00000209718.3 - 4 944 c.520G>C c.(520-522)Gaa>Caa p.E174Q KRT23_ENST00000436344.3_Missense_Mutation_p.E37Q|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 174 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) CCCTCGACTTCAATTTCCAAG 0.443000 21 95 0 0 0.00152264 0 0 ZNF430 80264 broad.mit.edu 37 19 21239886 21239886 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:21239886G>C ENST00000261560.5 + 5 953 c.772G>C c.(772-774)Gag>Cag p.E258Q NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 TCATACTGGAGAGAAACCCTA 0.368000 5 50 0 0 0.000602214 0 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:7577141C>T ENST00000420246.2 - 8 929 c.797G>A c.(796-798)gGa>gAa p.G266E TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) GCTGTTCCGTCCCAGTAGATT 0.517000 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) 8 10 0 0 0.00307968 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220797 118220797 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:118220797G>T ENST00000402510.2 - 11 4395 c.4396C>A c.(4396-4398)Cta>Ata p.L1466I NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1466 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TGATTGGATAGGTTTGCATGC 0.433000 11 80 6.42651e-13 2.50229e-12 0.000978159 1 0 ZIC3 7547 broad.mit.edu 37 X 136649666 136649666 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:136649666C>T ENST00000287538.5 + 1 1366 c.816C>T c.(814-816)ttC>ttT p.F272F ZIC3_ENST00000370606.3_Silent_p.F272F NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 272 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) ACCGGACCTTCAGCACCATGC 0.612000 9 94 0 0 0.000274275 0 0 SEL1L2 80343 broad.mit.edu 37 20 13839936 13839936 + Missense_Mutation SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr20:13839936A>T ENST00000284951.5 - 18 1864 c.1790T>A c.(1789-1791)aTg>aAg p.M597K SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 597 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GTGTTCATACATATAAGCCAG 0.413000 8 31 0 0 0.00307968 0 0 LRBA 987 broad.mit.edu 37 4 151388836 151388836 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:151388836C>T ENST00000535741.1 - 44 7242 c.6769G>A c.(6769-6771)Gat>Aat p.D2257N LRBA_ENST00000510413.1_Missense_Mutation_p.D2257N|LRBA_ENST00000357115.3_Missense_Mutation_p.D2268N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.D2257N P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2268 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TTGGACAAATCTCTGAAGTTG 0.313000 8 54 0 0 0.000274275 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513058 70513058 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:70513058G>A ENST00000503640.1 - 1 360 c.305C>T c.(304-306)tCa>tTa p.S102L UGT2A1_ENST00000286604.4_Missense_Mutation_p.S102L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S102L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S102L NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 102 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CCAAATGGTTGAAGGAGATGG 0.413000 11 60 0 0 0.000978159 0 0 DDX41 51428 broad.mit.edu 37 5 176943153 176943153 + Nonsense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:176943153C>A ENST00000507955.1 - 4 863 c.340G>T c.(340-342)Gag>Tag p.E114* DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 114 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGGATCTTCTCTTCTTCCTTC 0.522000 39 205 6.45866e-13 2.50229e-12 0.00195071 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589638 140589638 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:140589638G>A ENST00000239450.2 + 1 1348 c.1159G>A c.(1159-1161)Gag>Aag p.E387K PCDHB12_ENST00000541609.1_Missense_Mutation_p.E50K NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 387 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTATCCCGGAGGACATCCC 0.468000 12 45 0 0 0.000978159 0 0 MRPS7 51081 broad.mit.edu 37 17 73258060 73258060 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:73258060C>G ENST00000579761.1 + 1 306 c.79C>G c.(79-81)Cca>Gca p.P27A GGA3_ENST00000582717.1_Intron|GGA3_ENST00000582486.1_Intron|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000579743.1_Intron|MRPS7_ENST00000245539.6_Missense_Mutation_p.P27A|GGA3_ENST00000578348.1_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 27 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CTTGCAGCTTCCAGGGTGAGA 0.721000 10 61 0 0 0.00185496 0 0 MPP1 4354 broad.mit.edu 37 X 154033634 154033634 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:154033634C>T ENST00000369534.3 - 1 162 c.15G>A c.(13-15)gcG>gcA p.A5A MPP1_ENST00000393531.1_Silent_p.A5A|MPP1_ENST00000413259.3_5'UTR NM_001166460.1|NM_001166461.1|NM_002436.3 NP_001159932.1|NP_001159933.1|NP_002427.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 5 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGCCCTCGCTCGCCTTGAGGG 0.672000 4 25 0 0 0.000602214 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:49412905C>G ENST00000418115.1 - 2 502 c.118G>C c.(118-120)Gag>Cag p.E40Q RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q|RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 40 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.E40Q(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438000 24 103 0 0 0.00278032 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967283 142967283 + Silent SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:142967283A>G ENST00000370494.1 + 1 111 c.81A>G c.(79-81)ccA>ccG p.P27P NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 27 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) AAGCAGAACCAGATGAAAGCA 0.512000 44 111 0 0 0.00321405 0 0 CXorf23 256643 broad.mit.edu 37 X 19983783 19983783 + Nonsense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:19983783G>C ENST00000379687.3 - 3 686 c.653C>G c.(652-654)tCa>tGa p.S218* CXorf23_ENST00000379682.4_Nonsense_Mutation_p.S218*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.S218* NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 218 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 AGGTCTTTTTGATGTGTGTCC 0.438000 22 101 0 0 0.00278032 0 0 OR13H1 347468 broad.mit.edu 37 X 130678614 130678614 + Silent SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:130678614T>G ENST00000338616.3 + 1 665 c.567T>G c.(565-567)tcT>tcG p.S189S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TGACCTGTTCTGATACCAGCC 0.463000 49 246 0 0 0.00361006 0 0 GFM1 85476 broad.mit.edu 37 3 158363454 158363454 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:158363454G>A ENST00000486715.1 + 2 475 c.118G>A c.(118-120)Gtg>Atg p.V40M GFM1_ENST00000478576.1_Missense_Mutation_p.V40M|GFM1_ENST00000264263.5_Missense_Mutation_p.V40M NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 40 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTCATCAGGGGTGATTCCTAA 0.373000 10 49 0 0 0.000673444 0 0 VPS13D 55187 broad.mit.edu 37 1 12443108 12443108 + Missense_Mutation SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:12443108T>G ENST00000358136.3 + 58 11394 c.11264T>G c.(11263-11265)tTg>tGg p.L3755W VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.L3730W NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3754 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATGGAGCTTTTGGGGCCAGTT 0.433000 49 102 0 0 0.00361006 0 0 GIPC3 126326 broad.mit.edu 37 19 3586841 3586841 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:3586841G>A ENST00000322315.5 + 3 486 c.441G>A c.(439-441)cgG>cgA p.R147R NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 147 PDZ. breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TCATCAACCGGATCGAGGCAG 0.622000 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 15 0 0 0.00116845 0 0 LENG8 114823 broad.mit.edu 37 19 54968931 54968931 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:54968931G>C ENST00000326764.5 + 12 2216 c.1737G>C c.(1735-1737)ttG>ttC p.L579F LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 542 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TTCAGGTTTTGAAAAAGTCGC 0.493000 11 87 0 0 0.00185496 0 0 MNDA 4332 broad.mit.edu 37 1 158817523 158817523 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:158817523C>T ENST00000368141.4 + 6 1254 c.993C>T c.(991-993)agC>agT p.S331S NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 331 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.S331S(1) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TGCAGAAAAGCGTACACAAGA 0.368000 9 40 0 0 0.000274275 0 0 CDKN1B 1027 broad.mit.edu 37 12 12870859 12870859 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:12870859G>T ENST00000228872.4 + 1 802 c.86G>T c.(85-87)tGc>tTc p.C29F CDKN1B_ENST00000396340.1_Missense_Mutation_p.C29F|CDKN1B_ENST00000477087.1_Intron NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 29 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CCCTCGGCCTGCAGGAACCTC 0.617000 37 71 1.90571e-15 7.6336e-15 0.00428921 1 0 TFCP2L1 29842 broad.mit.edu 37 2 122038715 122038715 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:122038715C>T ENST00000263707.5 - 2 292 c.195G>A c.(193-195)acG>acA p.T65T NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 65 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GGTAGGTCAGCGTCTCTTCAT 0.627000 12 69 0 0 0.00136819 0 0 DNAH10 196385 broad.mit.edu 37 12 124413860 124413860 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:124413860G>A ENST00000409039.3 + 70 12016 c.11991G>A c.(11989-11991)atG>atA p.M3997I CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3997 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AACTCAACATGAGGGCAACTT 0.537000 4 16 0 0 0.00024832 0 0 PKM 5315 broad.mit.edu 37 15 72509817 72509817 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:72509817G>A ENST00000319622.6 - 3 635 c.179C>T c.(178-180)aCg>aTg p.T60M PKM_ENST00000449901.2_Intron|PKM_ENST00000568883.1_Intron|PKM_ENST00000389093.3_Missense_Mutation_p.T60M|PKM_ENST00000568459.1_Missense_Mutation_p.T60M|PKM_ENST00000565154.1_Missense_Mutation_p.T60M|PKM_ENST00000565184.1_Missense_Mutation_p.T60M|PKM_ENST00000335181.5_Missense_Mutation_p.T60M NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 CTCCTTCAACGTCTCCACTGA 0.408000 13 69 0 0 0.00244969 0 0 ADD1 118 broad.mit.edu 37 4 2877732 2877732 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:2877732G>C ENST00000355842.3 + 3 953 c.90G>C c.(88-90)gaG>gaC p.E30D ADD1_ENST00000503455.2_Missense_Mutation_p.E30D|ADD1_ENST00000513328.2_Missense_Mutation_p.E30D|ADD1_ENST00000446856.1_Missense_Mutation_p.E30D|ADD1_ENST00000398123.2_Missense_Mutation_p.E30D|ADD1_ENST00000398125.1_Missense_Mutation_p.E30D|ADD1_ENST00000398129.1_Missense_Mutation_p.E30D|ADD1_ENST00000264758.7_Missense_Mutation_p.E30D P35611 ADDA_HUMAN adducin 1 (alpha) 30 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGTAGATGAGAACAACCCAG 0.517000 27 98 0 0 0.000720815 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54115808 54115808 + Splice_Site SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:54115808C>T ENST00000548263.1 - 5 658 c.e5+1 CALCOCO1_ENST00000430117.2_Splice_Site|CALCOCO1_ENST00000262059.4_Splice_Site|CALCOCO1_ENST00000550804.1_Splice_Site Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CCAGCTCCCACCTTGTACTGT 0.597000 8 68 0 0 0.00307968 0 0 EGFR 1956 broad.mit.edu 37 7 55233026 55233026 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:55233026C>T ENST00000275493.2 + 15 1953 c.1776C>T c.(1774-1776)gtC>gtT p.V592V EGFR_ENST00000442591.1_Silent_p.V592V|EGFR_ENST00000342916.3_Silent_p.V592V|EGFR_ENST00000455089.1_Silent_p.V547V|EGFR_ENST00000344576.2_Silent_p.V592V|EGFR_ENST00000454757.2_Silent_p.V539V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 592 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCCACTGCGTCAAGACCTGCC 0.547000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 23 607 0 0 0.00278032 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33667250 33667250 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:33667250G>A ENST00000321505.4 + 16 4717 c.4537G>A c.(4537-4539)Gag>Aag p.E1513K KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1519K KIAA1549-like TGAAATCATAGAGGAAACCAA 0.498000 27 84 0 0 0.000720815 0 0 OR4M1 441670 broad.mit.edu 37 14 20248671 20248671 + Missense_Mutation SNP G G T rs114064896 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:20248671G>T ENST00000315957.4 + 1 271 c.190G>T c.(190-192)Gct>Tct p.A64S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCCTGTTGGCTAATCTGGC 0.408000 28 442 2.61193e-14 1.02881e-13 0.00178596 1 0 SF3B3 23450 broad.mit.edu 37 16 70590833 70590833 + Silent SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:70590833T>C ENST00000302516.5 + 15 2122 c.1911T>C c.(1909-1911)ccT>ccC p.P637P NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 637 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CAGCCCAGCCTGAGTCCTTGT 0.473000 3 70 0 0 0.00024832 0 0 CNTN1 1272 broad.mit.edu 37 12 41421672 41421672 + Silent SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:41421672T>A ENST00000551295.2 + 22 2841 c.2724T>A c.(2722-2724)ccT>ccA p.P908P CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.P908P|CNTN1_ENST00000348761.2_Silent_p.P897P NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 908 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTAGCCAGCCTCCAAGGATCA 0.408000 20 31 0 0 0.000958276 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 12 0 0 0.000602214 0 0 KALRN 8997 broad.mit.edu 37 3 124165030 124165030 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:124165030G>T ENST00000360013.3 + 20 3457 c.3330G>T c.(3328-3330)caG>caT p.Q1110H KALRN_ENST00000460856.1_Missense_Mutation_p.Q1101H|KALRN_ENST00000240874.3_Missense_Mutation_p.Q1110H NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1110 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCTCCTGCAGAGGGAGAATC 0.577000 12 60 2.27111e-07 8.47483e-07 0.00136819 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64606237 64606237 + Silent SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:64606237T>C ENST00000342711.5 - 8 1013 c.1014A>G c.(1012-1014)gaA>gaG p.E338E NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 338 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGTCCACGCCTTCGAAGAAAG 0.637000 29 66 0 0 0.00106085 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589962 140589962 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:140589962G>A ENST00000239450.2 + 1 1672 c.1483G>A c.(1483-1485)Gac>Aac p.D495N PCDHB12_ENST00000541609.1_Missense_Mutation_p.D158N NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 495 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGTCCCAGGACCCGCACCT 0.662000 22 159 0 0 0.00278032 0 0 FAM3A 60343 broad.mit.edu 37 X 153736911 153736911 + Missense_Mutation SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:153736911A>T ENST00000434658.2 - 4 638 c.169T>A c.(169-171)Tac>Aac p.Y57N FAM3A_ENST00000447601.2_Missense_Mutation_p.Y57N|FAM3A_ENST00000369641.3_Missense_Mutation_p.Y57N|FAM3A_ENST00000359889.5_Missense_Mutation_p.Y57N|FAM3A_ENST00000369643.1_Missense_Mutation_p.Y57N|FAM3A_ENST00000393572.1_Missense_Mutation_p.Y19N NM_001171134.1 NP_001164605.1 P98173 FAM3A_HUMAN family with sequence similarity 3, member A 57 extracellular region kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCACACTTGTACTTCCTGGCC 0.647000 6 11 0 0 0.00116845 0 0 GABRG2 2566 broad.mit.edu 37 5 161531032 161531032 + Splice_Site SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:161531032G>T ENST00000356592.3 + 6 1229 c.769_splice c.e6+1 p.G257_splice GABRG2_ENST00000361925.4_Splice_Site_p.G257_splice|GABRG2_ENST00000393933.4_Splice_Site_p.G162_splice|GABRG2_ENST00000414552.2_Splice_Site_p.G297_splice NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 257 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GACAACTTCCGGTAAGATGCA 0.383000 16 34 2.5808e-16 1.03965e-15 0.00074312 1 0 DUOX1 53905 broad.mit.edu 37 15 45433157 45433157 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:45433157G>A ENST00000321429.4 + 14 1861 c.1454G>A c.(1453-1455)gGa>gAa p.G485E DUOX1_ENST00000561166.1_Missense_Mutation_p.G131E|DUOX1_ENST00000389037.3_Missense_Mutation_p.G485E NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 485 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTCCCTGGGGGACTCCTGGAG 0.572000 27 79 0 0 0.000720815 0 0 DUSP3 1845 broad.mit.edu 37 17 41847077 41847077 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:41847077A>G ENST00000226004.3 - 3 521 c.458T>C c.(457-459)aTc>aCc p.I153T DUSP3_ENST00000397937.2_Missense_Mutation_p.I112T NM_004090.3 NP_004081.1 P51452 DUS3_HUMAN dual specificity phosphatase 3 153 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) CTGCCTCACGATGCTCAGGGC 0.582000 9 53 0 0 0.000673444 0 0 ZNF418 147686 broad.mit.edu 37 19 58438232 58438232 + Silent SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:58438232G>T ENST00000396147.1 - 4 1608 c.1317C>A c.(1315-1317)ggC>ggA p.G439G ZNF418_ENST00000599852.1_Silent_p.G354G|ZNF418_ENST00000425570.3_Silent_p.G460G|ZNF418_ENST00000595830.1_Silent_p.G439G|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GAATGAGGTTGCCCTTTCGAC 0.473000 41 149 1.59361e-14 6.34758e-14 0.00148497 1 0 TAOK2 9344 broad.mit.edu 37 16 30002132 30002132 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:30002132G>A ENST00000279394.3 + 18 2876 c.2473G>A c.(2473-2475)Gag>Aag p.E825K NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 704 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 CCAGGAGGCAGAGTTCCAGGC 0.602000 9 54 0 0 0.00136819 0 0 VWA9 81556 broad.mit.edu 37 15 65888131 65888131 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:65888131C>T ENST00000395644.4 - 7 1116 c.781G>A c.(781-783)Gat>Aat p.D261N VWA9_ENST00000567744.1_Missense_Mutation_p.D297N|VWA9_ENST00000313182.2_Missense_Mutation_p.D261N|VWA9_ENST00000442903.3_Missense_Mutation_p.D225N|VWA9_ENST00000420799.2_Missense_Mutation_p.D204N|VWA9_ENST00000431261.2_Missense_Mutation_p.D182N|VWA9_ENST00000569491.1_Missense_Mutation_p.D212N von Willebrand factor A domain containing 9 CTTGAAATATCAGCTATATCA 0.353000 7 32 0 0 0.00198382 0 0 ASPM 259266 broad.mit.edu 37 1 197115515 197115515 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:197115515C>T ENST00000367409.4 - 1 309 c.53G>A c.(52-54)cGg>cAg p.R18Q ASPM_ENST00000294732.7_Missense_Mutation_p.R18Q NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 18 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 gggcggcctccgctcggtcgg 0.711000 10 44 0 0 0.000673444 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427812 197427812 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:197427812C>G ENST00000273582.5 - 7 1298 c.753G>C c.(751-753)caG>caC p.Q251H KIAA0226_ENST00000389665.5_Missense_Mutation_p.Q311H|KIAA0226_ENST00000296343.5_Missense_Mutation_p.Q311H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.Q311H NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 311 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GGGAATCATTCTGGCTGCTGA 0.577000 9 61 0 0 0.000442599 0 0 DCAF4 26094 broad.mit.edu 37 14 73408452 73408452 + Splice_Site SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:73408452G>C ENST00000553457.1 + 4 341 c.e4-1 DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000353777.3_Intron Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 AATAAATATAGATTGCCAGGA 0.368000 39 75 0 0 0.00170553 0 0 SLC31A1 1317 broad.mit.edu 37 9 116022567 116022567 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr9:116022567C>T ENST00000374212.4 + 5 539 c.387C>T c.(385-387)agC>agT p.S129S SLC31A1_ENST00000374210.6_Silent_p.S129S|CDC26_ENST00000490408.1_Intron NM_001859.3 NP_001850.1 O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 129 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 AGATGCTGAGCTTTCCTCACC 0.498000 20 84 0 0 0.00121646 0 0 CLK2 1196 broad.mit.edu 37 1 155234561 155234561 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:155234561C>T ENST00000368361.4 - 9 1253 c.938G>A c.(937-939)cGa>cAa p.R313Q CLK2_ENST00000536801.1_Missense_Mutation_p.R313Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R311Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R312Q P49760 CLK2_HUMAN CDC-like kinase 2 313 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCGCTCATCTCGCTTCTAGGA 0.507000 Other conserved DNA damage response genes 27 31 0 0 0.00395357 0 0 CUBN 8029 broad.mit.edu 37 10 16911693 16911693 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr10:16911693G>A ENST00000377833.4 - 59 9461 c.9396C>T c.(9394-9396)ttC>ttT p.F3132F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3132 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATCTGTCTTGAACACCAGGA 0.453000 37 147 0 0 0.00128727 0 0 KLHL22 84861 broad.mit.edu 37 22 20800823 20800823 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr22:20800823C>T ENST00000328879.4 - 6 1602 c.1446G>A c.(1444-1446)cgG>cgA p.R482R KLHL22_ENST00000440659.2_Silent_p.R339R NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 482 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) GCCAGGCGCGCCGCACAGGCC 0.602000 19 93 0 0 0.00074312 0 0 CIT 11113 broad.mit.edu 37 12 120172977 120172977 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:120172977G>A ENST00000392521.2 - 25 3199 c.3144C>T c.(3142-3144)acC>acT p.T1048T CIT_ENST00000261833.7_Silent_p.T1006T|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1006 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) GCTTCTGGCTGGTAAGCTGCA 0.522000 16 79 0 0 0.000566183 0 0 METTL17 64745 broad.mit.edu 37 14 21464085 21464085 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:21464085C>A ENST00000339374.6 + 11 1204 c.971C>A c.(970-972)cCt>cAt p.P324H RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.P324H|METTL17_ENST00000556670.2_Missense_Mutation_p.P324H NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 324 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 CCTTTGGACCCTCGACCTGGT 0.453000 15 454 1.99824e-07 7.49603e-07 0.000566183 1 0 PSMB8 5696 broad.mit.edu 37 6 32808747 32808747 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:32808747C>A ENST00000374881.2 - 6 1097 c.808G>T c.(808-810)Gcc>Tcc p.A270S PSMB8_ENST00000374882.3_Missense_Mutation_p.A274S|PSMB8_ENST00000395339.3_Missense_Mutation_p.A250S NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 274 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 TATTGATTGGCTTCCCGGTAC 0.512000 16 46 2.23348e-06 8.20487e-06 0.00400662 1 0 GABRB2 2561 broad.mit.edu 37 5 160973365 160973365 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:160973365C>G ENST00000274547.2 - 3 349 c.132G>C c.(130-132)ctG>ctC p.L44L GABRB2_ENST00000393959.1_Silent_p.L44L|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Silent_p.L44L NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 44 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CATAGCCTTTCAGGAGTCTAT 0.453000 6 35 0 0 0.00116845 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580954 140580954 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:140580954G>A ENST00000354757.3 + 1 1607 c.1607G>A c.(1606-1608)cGc>cAc p.R536H PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171H NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 536 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCACAGACCGCGGCTCCCCG 0.667000 48 88 0 0 0.00361006 0 0 XPO1 7514 broad.mit.edu 37 2 61711150 61711150 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:61711150G>A ENST00000401558.2 - 21 3326 c.2599C>T c.(2599-2601)Cca>Tca p.P867S RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.P867S|XPO1_ENST00000406957.1_Missense_Mutation_p.P867S NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 867 intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGTGTAGGTGGAATAGCAAGG 0.348000 Mis CLL 13 71 0 0 0.00136819 0 0 HSPA4L 22824 broad.mit.edu 37 4 128753927 128753927 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:128753927C>G ENST00000296464.3 + 19 2829 c.2418C>G c.(2416-2418)caC>caG p.H806Q HSPA4L_ENST00000505726.1_Missense_Mutation_p.H780Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.H837Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.H806Q NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 806 H -> R (in Ref. 1; BAA75063). protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 ATAGTGAACACAATGGCCCAA 0.408000 12 61 0 0 0.000978159 0 0 MYO9A 4649 broad.mit.edu 37 15 72244166 72244166 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:72244166G>A ENST00000356056.5 - 15 2726 c.2254C>T c.(2254-2256)Cac>Tac p.H752Y MYO9A_ENST00000444904.1_Missense_Mutation_p.H733Y|MYO9A_ENST00000566885.1_Missense_Mutation_p.H347Y|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.H752Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.H752Y NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 752 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTCCTCTGGTGGACTGGGTGT 0.383000 24 134 0 0 0.00332997 0 0 ARMC8 25852 broad.mit.edu 37 3 138003316 138003316 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:138003316A>G ENST00000469044.1 + 19 2040 c.1769A>G c.(1768-1770)aAa>aGa p.K590R ARMC8_ENST00000481646.1_Missense_Mutation_p.K576R|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.K580R|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.K523R|ARMC8_ENST00000491704.1_Missense_Mutation_p.K548R|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.K517R|ARMC8_ENST00000538260.1_Missense_Mutation_p.K559R|NME9_ENST00000341790.5_Intron NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 590 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 ACAACAGCAAAAGATCTTATT 0.443000 77 156 0 0 0.00361006 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032551 21032551 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:21032551C>T ENST00000381545.3 + 11 1536 c.1317C>T c.(1315-1317)acC>acT p.T439T LST3_ENST00000540229.1_Silent_p.T439T|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.T439T|SLCO1B3_ENST00000553473.1_Silent_p.T439T NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 439 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CCGGCCTAACCTTGACCTATG 0.313000 18 47 0 0 0.000958276 0 0 ANKHD1 54882 broad.mit.edu 37 5 139838838 139838838 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:139838838C>G ENST00000297183.6 + 9 1694 c.1570C>G c.(1570-1572)Ctt>Gtt p.L524V ANKHD1_ENST00000394722.3_Missense_Mutation_p.L513V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L524V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L524V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L524V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGACTTTCTTATTAAGGC 0.443000 15 60 0 0 0.00244969 0 0 FIG4 9896 broad.mit.edu 37 6 110112620 110112620 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:110112620C>T ENST00000230124.3 + 20 2346 c.2222C>T c.(2221-2223)aCg>aTg p.T741M FIG4_ENST00000441478.2_Missense_Mutation_p.T464M NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 741 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CAGCGGAAAACGGCAGCCAGC 0.507000 14 127 0 0 0.00185496 0 0 TCL1A 8115 broad.mit.edu 37 14 96178699 96178699 + Missense_Mutation SNP C C T rs146705048 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:96178699C>T ENST00000402399.1 - 2 284 c.155G>A c.(154-156)cGt>cAt p.R52H RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52H|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52H|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52H|RP11-164H13.1_ENST00000553445.1_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 52 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GTCTTCCCGACGCAAGAGCAC 0.567000 T TRA@ T-CLL 21 96 0 0 0.00332997 0 0 ABRA 137735 broad.mit.edu 37 8 107782160 107782160 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr8:107782160C>T ENST00000311955.3 - 1 313 c.259G>A c.(259-261)Gaa>Aaa p.E87K NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 87 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CCATGTCCTTCTGGCAGGCGG 0.532000 18 124 0 0 0.00121646 0 0 KCNV1 27012 broad.mit.edu 37 8 110986443 110986443 + Missense_Mutation SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr8:110986443A>T ENST00000524391.1 - 2 1207 c.175T>A c.(175-177)Tgc>Agc p.C59S RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.C59S Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 59 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGCGGGAAGCAGGACAGCGCC 0.711000 3 5 0 0 6.4e-05 0 0 PHF3 23469 broad.mit.edu 37 6 64423243 64423243 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:64423243G>A ENST00000262043.3 + 16 6099 c.5759G>A c.(5758-5760)cGc>cAc p.R1920H PHF3_ENST00000393387.1_Missense_Mutation_p.R1920H Q92576 PHF3_HUMAN PHD finger protein 3 1920 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAGGGGACCGCCAGAGATTT 0.473000 47 81 0 0 0.00321405 0 0 PALLD 23022 broad.mit.edu 37 4 169611844 169611844 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:169611844C>T ENST00000335742.7 + 7 1637 c.280C>T c.(280-282)Cgg>Tgg p.R94W PALLD_ENST00000333488.4_Missense_Mutation_p.R353W|PALLD_ENST00000512127.1_Missense_Mutation_p.R94W|PALLD_ENST00000261509.6_Missense_Mutation_p.R476W|PALLD_ENST00000505667.1_Missense_Mutation_p.R476W Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 476 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CCAGTGGTTTCGGCAAGGGAG 0.527000 Pancreatic Cancer, Familial Clustering of 28 131 0 0 0.000878237 0 0 QRFPR 84109 broad.mit.edu 37 4 122257976 122257976 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:122257976C>T ENST00000394427.2 - 3 958 c.547G>A c.(547-549)Gtg>Atg p.V183M QRFPR_ENST00000334383.5_Missense_Mutation_p.V183M NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 183 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 AGTTGTTGCACGTGCCACATG 0.423000 97 223 0 0 0.00361006 0 0 WDR7 23335 broad.mit.edu 37 18 54358527 54358527 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr18:54358527C>G ENST00000254442.3 + 8 1009 c.798C>G c.(796-798)gtC>gtG p.V266V WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V266V NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 266 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GGGACTTTGTCTCATCAGATA 0.418000 35 58 0 0 0.00283554 0 0 EBF1 1879 broad.mit.edu 37 5 158524010 158524010 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:158524010G>T ENST00000313708.6 - 2 545 c.263C>A c.(262-264)gCg>gAg p.A88E EBF1_ENST00000517373.1_Missense_Mutation_p.A88E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A88E NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 88 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCACAAACGCTGTCCTCTC 0.637000 T HMGA2 lipoma 12 23 1.61879e-10 6.17056e-10 0.00136819 1 0 LIPG 9388 broad.mit.edu 37 18 47107900 47107900 + Silent SNP C C T rs34325187 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr18:47107900C>T ENST00000261292.4 + 6 1187 c.909C>T c.(907-909)ttC>ttT p.F303F LIPG_ENST00000577628.1_Silent_p.F339F|LIPG_ENST00000580036.1_Silent_p.F303F|LIPG_ENST00000427224.2_Silent_p.F229F NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 303 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CCAATCGCTTCAAAAAGGGGA 0.468000 17 116 0 0 0.00074312 0 0 HERC1 8925 broad.mit.edu 37 15 63978604 63978604 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:63978604T>C ENST00000443617.2 - 34 6266 c.6179A>G c.(6178-6180)tAt>tGt p.Y2060C RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2060 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGCCAATCCATATCCTTTCCC 0.408000 80 143 0 0 0.00361006 0 0 TRAF7 84231 broad.mit.edu 37 16 2218133 2218133 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:2218133C>T ENST00000326181.6 + 4 327 c.195C>T c.(193-195)acC>acT p.T65T NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 65 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 CCTCCAGCACCCTTGCCTACT 0.672000 5 17 0 0 0.00116845 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267977 103267977 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:103267977G>A ENST00000217926.5 - 1 282 c.256C>T c.(256-258)Cgc>Tgc p.R86C NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 86 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 AGCACCCGGCGGAAATAGGTG 0.622000 11 102 0 0 0.000978159 0 0 SORBS2 8470 broad.mit.edu 37 4 186545017 186545017 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:186545017C>G ENST00000431808.1 - 14 2117 c.1554G>C c.(1552-1554)caG>caC p.Q518H SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Q422H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Q618H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.Q518H|SORBS2_ENST00000498125.1_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 518 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATTTGGACTTCTGGATCAGCT 0.562000 16 79 0 0 0.00316338 0 0 NFIC 4782 broad.mit.edu 37 19 3452481 3452481 + Splice_Site SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:3452481G>T ENST00000589123.1 + 8 1179 c.1057_splice c.e8-1 p.G353_splice NFIC_ENST00000590282.1_Splice_Site_p.G362_splice|NFIC_ENST00000346156.5_Splice_Site_p.G329_splice|NFIC_ENST00000395111.3_Splice_Site_p.G353_splice|NFIC_ENST00000586919.1_Splice_Site_p.G329_splice|NFIC_ENST00000443272.2_Splice_Site_p.G362_splice|NFIC_ENST00000341919.3_Splice_Site_p.G362_splice NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 362 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) TCTCCGCAGGGATCGCCCGGA 0.647000 52 181 1.46156e-29 6.05991e-29 0.00361006 1 0 HTR3E 285242 broad.mit.edu 37 3 183824397 183824397 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:183824397C>T ENST00000415389.2 + 9 1753 c.1287C>T c.(1285-1287)caC>caT p.H429H HTR3E_ENST00000335304.2_Silent_p.H444H|HTR3E_ENST00000440596.2_Silent_p.H455H|HTR3E_ENST00000436361.2_Silent_p.H429H|HTR3E_ENST00000425359.2_Silent_p.H414H NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 429 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGTTCAGCCACGCGATGGACG 0.607000 22 97 0 0 0.00278032 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267902 103267902 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:103267902G>C ENST00000217926.5 - 1 357 c.331C>G c.(331-333)Cat>Gat p.H111D NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 111 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 AATATGTCATGAACCAAAGAA 0.637000 9 98 0 0 0.000442599 0 0 C9orf3 84909 broad.mit.edu 37 9 97522394 97522394 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr9:97522394C>T ENST00000375315.2 + 1 329 c.329C>T c.(328-330)tCt>tTt p.S110F C9orf3_ENST00000297979.5_Missense_Mutation_p.S110F|C9orf3_ENST00000277198.2_Missense_Mutation_p.S110F NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 110 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAAGATACTTCTGATAAAGAT 0.408000 29 97 0 0 0.000878237 0 0 ENOX2 10495 broad.mit.edu 37 X 129799651 129799651 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:129799651C>T ENST00000338144.3 - 10 1484 c.1067G>A c.(1066-1068)cGg>cAg p.R356Q ENOX2_ENST00000370935.1_Missense_Mutation_p.R327Q|ENOX2_ENST00000394363.1_Missense_Mutation_p.R327Q|ENOX2_ENST00000370927.1_Missense_Mutation_p.R356Q NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 356 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GATGTTCTTCCGCTGGGCTTT 0.483000 4 22 0 0 0.00024832 0 0 TSC2 7249 broad.mit.edu 37 16 2121792 2121792 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:2121792G>C ENST00000219476.3 + 19 2584 c.1954G>C c.(1954-1956)Gag>Cag p.E652Q TSC2_ENST00000382538.6_Missense_Mutation_p.E603Q|TSC2_ENST00000401874.2_Missense_Mutation_p.E652Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E652Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E652Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E663Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E615Q NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 652 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CAGGGAGCCAGAGAGAGGCTC 0.662000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 3 13 0 0 6.4e-05 0 0 PLCXD2 257068 broad.mit.edu 37 3 111426919 111426919 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:111426919G>C ENST00000393934.3 + 2 880 c.310G>C c.(310-312)Gaa>Caa p.E104Q PLCXD2_ENST00000477665.1_Missense_Mutation_p.E104Q NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 104 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 GACATTTCGAGAACAGCTGGA 0.522000 11 83 0 0 0.00316338 0 0 DMD 1756 broad.mit.edu 37 X 31947740 31947740 + Silent SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:31947740G>C ENST00000357033.4 - 47 7091 c.6885C>G c.(6883-6885)ctC>ctG p.L2295L DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2291L|DMD_ENST00000343523.2_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2295 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGTCTGCTTGAGCTTATTTT 0.403000 16 84 0 0 0.000958276 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54117433 54117433 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:54117433C>T ENST00000548263.1 - 4 442 c.394G>A c.(394-396)Gag>Aag p.E132K CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E99K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E132K|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E132K Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 132 N-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CCATCAGCCTCCTCCAGGGTC 0.577000 8 66 0 0 0.000673444 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626223 44626223 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:44626223G>C ENST00000576629.1 + 10 4213 c.3718G>C c.(3718-3720)Gag>Cag p.E1240Q ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.E1240Q|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1240 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) CTTCACCCAAGAGCATAAGGC 0.592000 17 223 0 0 0.000958276 0 0 MYO5A 4644 broad.mit.edu 37 15 52632529 52632529 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:52632529C>A ENST00000399231.3 - 32 4346 c.4103G>T c.(4102-4104)cGt>cTt p.R1368L MYO5A_ENST00000356338.6_Missense_Mutation_p.R1341L|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1365L|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1341L|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1368L NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1368 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GATCTCCCCACGGAGGGCCTC 0.637000 19 82 5.03518e-11 1.94019e-10 0.000958276 1 0 ELF3 1999 broad.mit.edu 37 1 201981088 201981088 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:201981088A>G ENST00000359651.3 + 2 3359 c.167A>G c.(166-168)aAg>aGg p.K56R RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.K56R|ELF3_ENST00000367283.3_Missense_Mutation_p.K56R|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 56 PNT. EK -> GE (in Ref. 7; CAD29859). epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CTTGCAGAGAAGGCCAGCTGG 0.547000 70 110 0 0 0.00361006 0 0 ASGR1 432 broad.mit.edu 37 17 7077514 7077514 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:7077514G>T ENST00000574388.1 - 5 1212 c.420C>A c.(418-420)gaC>gaA p.D140E ASGR1_ENST00000269299.3_Missense_Mutation_p.D179E|ASGR1_ENST00000380920.4_Missense_Mutation_p.D78E|ASGR1_ENST00000572879.1_Missense_Mutation_p.D39E P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 179 receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 10 GGCAGTAGTTGTCGGCGTCAG 0.677000 42 60 4.44401e-20 1.81081e-19 0.0025221 1 0 TTN 7273 broad.mit.edu 37 2 179456614 179456614 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:179456614G>C ENST00000589042.1 - 303 60156 c.59932C>G c.(59932-59934)Cca>Gca p.P19978A TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11038A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17410A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11105A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10913A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18337A|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18337 Fibronectin type-III 44. 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) GGTGGCCCTGGGGGATCTTTT 0.428000 3 65 0 0 6.4e-05 0 0 HDAC8 55869 broad.mit.edu 37 X 71681889 71681889 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:71681889C>G ENST00000373573.3 - 9 1311 c.970G>C c.(970-972)Ggg>Cgg p.G324R HDAC8_ENST00000373589.4_Missense_Mutation_p.G233R|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.G129R NM_018486.2 NP_060956.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 324 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) AGTGTTTTCCCTAGGATGACC 0.463000 18 101 0 0 0.00074312 0 0 DYRK1A 1859 broad.mit.edu 37 21 38878577 38878577 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:38878577G>C ENST00000338785.3 + 12 1951 c.1722G>C c.(1720-1722)tgG>tgC p.W574C DYRK1A_ENST00000339659.3_Intron|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E518Q|DYRK1A_ENST00000398956.2_Intron|DYRK1A_ENST00000451934.1_Missense_Mutation_p.W574C|DYRK1A_ENST00000398960.2_Intron|DYRK1A_ENST00000455387.2_Intron NM_101395.2 NP_567824.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 568 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TTCTCAGGTGGAGCAGCACTG 0.502000 4 19 0 0 0.00024832 0 0 GBP7 388646 broad.mit.edu 37 1 89616203 89616203 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:89616203G>T ENST00000294671.2 - 6 819 c.681C>A c.(679-681)ttC>ttA p.F227L NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 227 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GTTTTGGAAAGAAATGCCTGA 0.393000 37 50 8.73648e-17 3.53952e-16 0.00428921 1 0 KCTD8 386617 broad.mit.edu 37 4 44177085 44177085 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:44177085G>A ENST00000360029.3 - 2 1427 c.1144C>T c.(1144-1146)Cac>Tac p.H382Y NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 382 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TTAGGTTGGTGAGCTGTTGCC 0.507000 HNSCC(17;0.042) 22 140 0 0 0.00188189 0 0 ZFP2 80108 broad.mit.edu 37 5 178358852 178358852 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:178358852C>A ENST00000361362.2 + 5 1068 c.538C>A c.(538-540)Cac>Aac p.H180N ZFP2_ENST00000523286.1_Missense_Mutation_p.H180N|ZFP2_ENST00000520301.1_Missense_Mutation_p.H180N|ZFP2_ENST00000503510.2_Missense_Mutation_p.H180N NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCAACGAACTCACACCGGAGA 0.398000 8 37 1.12685e-05 4.11823e-05 0.000274275 1 0 EVA1C 59271 broad.mit.edu 37 21 33876236 33876236 + Splice_Site SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:33876236G>A ENST00000300255.2 + 7 1333 c.859_splice c.e7-1 p.G287_splice EVA1C_ENST00000382699.3_Splice_Site_p.G284_splice|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Splice_Site_p.G239_splice NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) CATGAAACAGGTATAAACTTC 0.458000 38 92 0 0 0.00128727 0 0 ZNF264 9422 broad.mit.edu 37 19 57705330 57705330 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:57705330G>C ENST00000263095.6 + 2 535 c.121G>C c.(121-123)Gag>Cag p.E41Q ZNF264_ENST00000600531.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000536056.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000599653.1_Missense_Mutation_p.E41Q NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCTGTACCAGGAGGTGATGCT 0.557000 23 107 0 0 0.00229938 0 0 XIST 7503 broad.mit.edu 37 X 73071873 73071873 + RNA SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:73071873C>T ENST00000429829.1 - 0 715 NR_001564.2 CAGGTATCCGCGGCCCCGATG 0.428000 9 24 0 0 0.000274275 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35919264 35919264 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:35919264C>G ENST00000325722.3 - 12 2041 c.1807G>C c.(1807-1809)Gca>Cca p.A603P KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40P NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 603 PKD 4. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTGGGCCTGCATCTGCCTGA 0.478000 8 39 0 0 0.000274275 0 0 SLIT2 9353 broad.mit.edu 37 4 20541203 20541203 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:20541203A>G ENST00000504154.1 + 19 2224 c.1972A>G c.(1972-1974)Act>Gct p.T658A SLIT2_ENST00000503837.1_Missense_Mutation_p.T654A|SLIT2_ENST00000273739.5_Missense_Mutation_p.T662A|SLIT2_ENST00000503823.1_Missense_Mutation_p.T650A NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 658 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTCTTTATCTACTCTGTAAGT 0.299000 9 33 0 0 0.000442599 0 0 CEP112 201134 broad.mit.edu 37 17 63847958 63847958 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:63847958C>G ENST00000392769.2 - 21 2576 c.2358G>C c.(2356-2358)aaG>aaC p.K786N CEP112_ENST00000535342.2_Missense_Mutation_p.K786N|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.K744N|CEP112_ENST00000541355.1_Missense_Mutation_p.K421N NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 786 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 CAGCATGAGTCTTTTTCAGCT 0.373000 24 150 0 0 0.00106085 0 0 OMP 4975 broad.mit.edu 37 11 76813990 76813990 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:76813990C>T ENST00000529803.1 + 1 105 c.105C>T c.(103-105)cgC>cgT p.R35R CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 35 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGAAGCAGCGCGGGGAGAAGC 0.672000 17 27 0 0 0.000958276 0 0 SEMA6B 10501 broad.mit.edu 37 19 4552583 4552583 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:4552583C>T ENST00000586582.1 - 10 1150 c.840G>A c.(838-840)aaG>aaA p.K280K SEMA6B_ENST00000301293.3_Silent_p.K280K|SEMA6B_ENST00000586965.1_Silent_p.K280K NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 280 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTCCACTGCTTCTCCAGCA 0.657000 10 12 0 0 0.000673444 0 0 LAMA2 3908 broad.mit.edu 37 6 129470160 129470160 + Missense_Mutation SNP G G A rs141340479 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:129470160G>A ENST00000421865.2 + 7 995 c.946G>A c.(946-948)Gat>Aat p.D316N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 316 Laminin EGF-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.D316Y(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACATGTGGCGATAGCTGTGA 0.428000 16 91 0 0 0.00400662 0 0 CSDC2 27254 broad.mit.edu 37 22 41969737 41969737 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr22:41969737C>T ENST00000306149.7 + 3 799 c.255C>T c.(253-255)atC>atT p.I85I NM_014460.3 NP_055275.1 Q9Y534 CSDC2_HUMAN cold shock domain containing C2, RNA binding 85 CSD. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|RNA binding prostate(2)|upper_aerodigestive_tract(1) 3 ATGGCTTCATCACCCCCGAGA 0.607000 11 84 0 0 0.000978159 0 0 ABHD5 51099 broad.mit.edu 37 3 43753250 43753250 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:43753250G>C ENST00000458276.2 + 4 679 c.556G>C c.(556-558)Gac>Cac p.D186H NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 186 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TGAACGACCAGACCTTGCTGA 0.453000 11 54 0 0 0.000673444 0 0 HIP1 3092 broad.mit.edu 37 7 75172176 75172176 + Nonsense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:75172176C>A ENST00000336926.6 - 28 2910 c.2884G>T c.(2884-2886)Gag>Tag p.E962* HIP1_ENST00000434438.2_Nonsense_Mutation_p.E911* NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 962 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTACCTGTCTCTTCGATCTGT 0.572000 T PDGFRB CMML 13 49 7.03913e-09 2.65465e-08 0.00136819 1 0 ZNF160 90338 broad.mit.edu 37 19 53578326 53578326 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:53578326C>G ENST00000601421.1 - 1 894 c.18G>C c.(16-18)tgG>tgC p.W6C ZNF160_ENST00000429604.1_Missense_Mutation_p.W42C|ZNF160_ENST00000599056.1_Missense_Mutation_p.W42C|ZNF160_ENST00000418871.1_Missense_Mutation_p.W42C|ZNF160_ENST00000355147.5_Missense_Mutation_p.W42C Q9HCG1 ZN160_HUMAN zinc finger protein 160 42 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AAACAAGGTTCCAGTAGTTCT 0.483000 3 102 0 0 6.4e-05 0 0 U2AF1 7307 broad.mit.edu 37 21 44521518 44521518 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:44521518G>A ENST00000380276.2 - 3 227 c.157C>T c.(157-159)Cgt>Tgt p.R53C U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_Intron NM_001025203.1 NP_001020374.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 53 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 TGGGGATTACGATAGATGTTT 0.398000 Mis """CLL, MDS""" 79 314 0 0 0.00361006 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964812 7964812 + Nonsense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:7964812C>T ENST00000539278.1 - 1 3615 c.455G>A c.(454-456)tGg>tAg p.W152* LRRC8E_ENST00000306708.6_Missense_Mutation_p.H469Y CAGCTTGCTCCACTCGCCCGC 0.632000 9 22 0 0 0.000274275 0 0 TRHDE 29953 broad.mit.edu 37 12 72680609 72680609 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:72680609G>A ENST00000261180.4 + 2 1024 c.928G>A c.(928-930)Gtg>Atg p.V310M NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 310 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGAAACTTCCGTGTTTGAGGA 0.403000 56 85 0 0 0.00361006 0 0 AURKB 9212 broad.mit.edu 37 17 8108663 8108663 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:8108663C>T ENST00000316199.6 - 8 812 c.735G>A c.(733-735)atG>atA p.M245I AURKB_ENST00000585124.1_Missense_Mutation_p.M244I|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.M203I|AURKB_ENST00000578549.1_Missense_Mutation_p.M212I Q96GD4 AURKB_HUMAN aurora kinase B 244 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|lung(2) 4 GCCCCTCAATCATCTCTGGGG 0.562000 14 64 0 0 0.00316338 0 0 MED12 9968 broad.mit.edu 37 X 70347742 70347742 + Splice_Site SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:70347742G>T ENST00000333646.6 + 22 3180 c.e22-1 MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CATCCCTGCAGCGACTTTTGC 0.493000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 11 24 2.80697e-09 1.06425e-08 0.000978159 1 0 NID2 22795 broad.mit.edu 37 14 52481133 52481133 + Silent SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:52481133G>T ENST00000216286.5 - 16 3291 c.3292C>A c.(3292-3294)Cgg>Agg p.R1098R NID2_ENST00000541773.1_Silent_p.R997R NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1098 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) ACATCTGGCCGGGGCGTGGGC 0.617000 OREG0022678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 30 2.37509e-13 9.30354e-13 0.00152264 1 0 PTPN7 5778 broad.mit.edu 37 1 202121757 202121757 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:202121757G>A ENST00000309017.3 - 8 1876 c.1103C>T c.(1102-1104)tCa>tTa p.S368L PTPN7_ENST00000544762.1_Missense_Mutation_p.S39L|PTPN7_ENST00000543735.1_Missense_Mutation_p.S92L|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.S302L|PTPN7_ENST00000308986.5_Missense_Mutation_p.S263L NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 263 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GGGCCCAGCTGATTCTGGTGT 0.622000 23 45 0 0 0.00229938 0 0 LRPPRC 10128 broad.mit.edu 37 2 44209427 44209427 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:44209427C>T ENST00000260665.7 - 2 353 c.296G>A c.(295-297)cGc>cAc p.R99H LRPPRC_ENST00000409659.1_Missense_Mutation_p.R99H|LRPPRC_ENST00000409946.1_Missense_Mutation_p.R99H NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 99 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTTGGAATGCGGCCAGTTCT 0.383000 9 44 0 0 0.000442599 0 0 ADAM29 11086 broad.mit.edu 37 4 175897744 175897744 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:175897744G>A ENST00000359240.3 + 5 1738 c.1068G>A c.(1066-1068)atG>atA p.M356I ADAM29_ENST00000404450.4_Missense_Mutation_p.M356I|ADAM29_ENST00000514159.1_Missense_Mutation_p.M356I|ADAM29_ENST00000445694.1_Missense_Mutation_p.M356I NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 356 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GATGCATAATGCATGAAGGCA 0.388000 19 107 0 0 0.00074312 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35919263 35919263 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:35919263G>C ENST00000325722.3 - 12 2042 c.1808C>G c.(1807-1809)gCa>gGa p.A603G KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40G NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 603 PKD 4. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCTGGGCCTGCATCTGCCTG 0.473000 8 39 0 0 0.000274275 0 0 GOSR1 9527 broad.mit.edu 37 17 28811740 28811740 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:28811740G>C ENST00000225724.5 + 4 372 c.300G>C c.(298-300)ttG>ttC p.L100F GOSR1_ENST00000581721.1_Missense_Mutation_p.L100F|GOSR1_ENST00000451249.2_Missense_Mutation_p.L98F|GOSR1_ENST00000467337.2_Missense_Mutation_p.L35F NM_001007024.1|NM_001007025.1|NM_004871.2 NP_001007025.1|NP_001007026.1|NP_004862.1 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 100 intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 12 TCCCCTCCTTGAATGCAGCCC 0.363000 7 44 0 0 0.000274275 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927374 36927374 + Missense_Mutation SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:36927374T>A ENST00000269554.3 - 8 1439 c.959A>T c.(958-960)tAt>tTt p.Y320F NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 320 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 AGGTGTGCCATAGGAGCAGAG 0.597000 19 47 0 0 0.00074312 0 0 TRGC1 6966 broad.mit.edu 37 7 38305106 38305106 + RNA SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:38305106C>A ENST00000443402.2 - 0 173 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 GTGTTCCCCTCCTGGGATCCC 0.418000 41 143 2.47872e-24 1.01585e-23 0.0025221 1 0 SLC4A2 6522 broad.mit.edu 37 7 150772740 150772740 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:150772740G>T ENST00000485713.1 + 21 4389 c.3349G>T c.(3349-3351)Gtg>Ttg p.V1117L SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1108L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1035L|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1117L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1103L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1117 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCCCTGGCCGTGCTCTTTGG 0.607000 9 56 5.68852e-11 2.18009e-10 0.000274275 1 0 ABLIM2 84448 broad.mit.edu 37 4 8021358 8021358 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:8021358G>C ENST00000318888.4 - 13 1384 c.513C>G c.(511-513)atC>atG p.I171M ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I171M|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I437M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I470M|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I437M|ABLIM2_ENST00000341937.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000407564.3_Intron Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 437 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GCTGTCTGTAGATAGGGGGTT 0.473000 13 55 0 0 0.00316338 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408304 107408304 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:107408304C>T ENST00000340010.5 - 19 2296 c.2112G>A c.(2110-2112)gtG>gtA p.V704V SLC26A3_ENST00000422236.2_Silent_p.V591V NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 704 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TTGAGCTTTTCACTTCACCAT 0.328000 11 29 0 0 0.000673444 0 0 SLC2A1 6513 broad.mit.edu 37 1 43396789 43396789 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:43396789G>A ENST00000426263.3 - 3 381 c.203C>T c.(202-204)tCa>tTa p.S68L SLC2A1_ENST00000415851.2_Missense_Mutation_p.S68L|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S68L NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 68 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GATGGCCACTGAGAGGGACCA 0.592000 OREG0013425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 55 0 0 0.000673444 0 0 FBXO31 79791 broad.mit.edu 37 16 87365041 87365041 + Silent SNP G G A rs141426651 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:87365041G>A ENST00000311635.7 - 9 1485 c.1473C>T c.(1471-1473)ttC>ttT p.F491F RP11-178L8.4_ENST00000568879.1_Intron NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 491 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) GGTCCTCATCGAAGAGGATGA 0.612000 11 24 0 0 0.000978159 0 0 FCGBP 8857 broad.mit.edu 37 19 40408042 40408042 + Missense_Mutation SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:40408042T>A ENST00000221347.6 - 9 4686 c.4679A>T c.(4678-4680)gAt>gTt p.D1560V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1560 Cys-rich.|TIL 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGCACACCCATCCTGGCACTG 0.617000 12 40 0 0 0.00136819 0 0 ARIH1 25820 broad.mit.edu 37 15 72873104 72873104 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:72873104C>G ENST00000379887.4 + 12 1562 c.1248C>G c.(1246-1248)ttC>ttG p.F416L ARIH1_ENST00000562891.1_3'UTR NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 416 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 GGTACCTGTTCTACTGTAATC 0.418000 7 43 0 0 0.00198382 0 0 OTUB2 78990 broad.mit.edu 37 14 94511065 94511065 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:94511065G>A ENST00000203664.5 + 5 646 c.437G>A c.(436-438)cGa>cAa p.R146Q NM_023112.3 NP_075601.1 Q96DC9 OTUB2_HUMAN OTU domain, ubiquitin aldehyde binding 2 146 OTU. cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination omega peptidase activity|protein binding|ubiquitin-specific protease activity kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) ATCAGGAACCGAGCAGACTTC 0.587000 19 25 0 0 0.00074312 0 0 DAAM1 23002 broad.mit.edu 37 14 59791160 59791160 + Nonsense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:59791160C>G ENST00000395125.1 + 7 1000 c.977C>G c.(976-978)tCa>tGa p.S326* DAAM1_ENST00000360909.3_Nonsense_Mutation_p.S326*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.S326* NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 326 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CACGAAAATTCAACATTAGAT 0.363000 3 49 0 0 0.00024832 0 0 TSIX 9383 broad.mit.edu 37 X 73044042 73044042 + RNA SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:73044042G>C ENST00000604411.1 + 0 32003 XIST_ENST00000429829.1_lincRNA NR_003255.2 gcctagcaatgagattggcac 0.338000 3 5 0 0 6.4e-05 0 0 RASGRP2 10235 broad.mit.edu 37 11 64508539 64508539 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:64508539G>A ENST00000394429.1 - 3 251 c.181C>T c.(181-183)Cgc>Tgc p.R61C RASGRP2_ENST00000394430.1_Silent_p.S84S|RASGRP2_ENST00000377494.1_Silent_p.S84S|RASGRP2_ENST00000377489.1_Silent_p.S84S|RASGRP2_ENST00000377487.1_Silent_p.S84S|RASGRP2_ENST00000377486.3_Silent_p.S84S|RASGRP2_ENST00000377497.3_Silent_p.S84S|RASGRP2_ENST00000394428.1_Missense_Mutation_p.R58C|RASGRP2_ENST00000354024.3_Silent_p.S84S|RASGRP2_ENST00000394432.3_Silent_p.S84S Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 0 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTGGGAAGGCGGAGATCCAGT 0.572000 OREG0004006 type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 24 0 0 0.00307968 0 0 CD99L2 83692 broad.mit.edu 37 X 149963727 149963727 + Nonsense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:149963727G>A ENST00000370377.3 - 6 499 c.382C>T c.(382-384)Cga>Tga p.R128* CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Nonsense_Mutation_p.R56*|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Nonsense_Mutation_p.R79* NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 128 R -> Q (in Ref. 4; BAG54124). cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CGATCATTTCGATCATCCAGG 0.448000 32 205 0 0 0.00375469 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257054 114257054 + Missense_Mutation SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:114257054T>A ENST00000306507.5 + 1 394 c.221T>A c.(220-222)aTc>aAc p.I74N NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 74 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 CGAGAGCACATCGAGGGCGGC 0.701000 19 41 0 0 0.000958276 0 0 ZNF101 94039 broad.mit.edu 37 19 19790800 19790800 + Silent SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:19790800A>T ENST00000592502.1 + 4 1112 c.1002A>T c.(1000-1002)ggA>ggT p.G334G ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.G214G Q8IZC7 ZN101_HUMAN zinc finger protein 101 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 CTCACACTGGAGAAAGACCTT 0.368000 6 31 0 0 0.00198382 0 0 ABTB1 80325 broad.mit.edu 37 3 127395886 127395886 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:127395886C>T ENST00000468137.1 + 6 793 c.177C>T c.(175-177)ctC>ctT p.L59L ABTB1_ENST00000393363.3_Silent_p.L59L|ABTB1_ENST00000453791.2_Silent_p.L59L|ABTB1_ENST00000232744.8_Silent_p.L201L Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 201 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 GGGACCTGCTCAGCGACCTGG 0.667000 12 43 0 0 0.00136819 0 0 SYDE2 84144 broad.mit.edu 37 1 85656306 85656307 + Frame_Shift_Ins INS - - A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:85656306_85656307insA ENST00000341460.5 - 2 923_924 c.874_875insT c.(874-876)tcafs p.S292fs NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 292 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) AGTACTCTGATATAGCCAATTG 0.381 58 127 --- --- --- --- TANC1 85461 broad.mit.edu 37 2 160085398 160085399 + Frame_Shift_Ins INS - - A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:160085398_160085399insA ENST00000263635.6 + 26 4379_4380 c.4142_4143insA c.(4141-4143)aaafs p.K1381fs TANC1_ENST00000454300.1_Frame_Shift_Ins_p.K1275fs NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1381 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AGAGCGAAGAGAAATAGCAGGT 0.470 40 96 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 3 5 --- --- --- --- MAGEA3 4102 broad.mit.edu 37 X 151935346 151935346 + Frame_Shift_Del DEL C C - TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:151935346delC ENST00000393902.3 - 3 1388 c.821delG c.(820-822)gtfs p.G274fs MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.G274fs P43357 MAGA3_HUMAN melanoma antigen family A, 3 274 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GGCCCTTGGACCCCACAGGAA 0.532 36 253 --- --- --- ---