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 GGNBP2 79893 broad.mit.edu 37 17 34945780 34945780 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:34945780G>A ENST00000304718.4 + 14 2349 c.2033G>A c.(2032-2034)cGg>cAg p.R678Q NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 678 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AAATACTGCCGGTTAAATGAT 0.373000 55 129 0 0 0.000781405 0 0 NR3C1 2908 broad.mit.edu 37 5 142675046 142675046 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:142675046T>G ENST00000343796.2 - 7 2995 c.2002A>C c.(2002-2004)Acc>Ccc p.T668P NR3C1_ENST00000416954.2_Missense_Mutation_p.T271P|NR3C1_ENST00000394466.2_Missense_Mutation_p.T669P|NR3C1_ENST00000231509.3_Missense_Mutation_p.T669P|NR3C1_ENST00000424646.2_Missense_Mutation_p.T642P|NR3C1_ENST00000394464.2_Missense_Mutation_p.T668P|NR3C1_ENST00000503201.1_Missense_Mutation_p.T668P|NR3C1_ENST00000504572.1_Missense_Mutation_p.T669P|NR3C1_ENST00000415690.2_Missense_Mutation_p.T668P NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 668 Steroid-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) AGCAGTAAGGTTTTCATACAG 0.378000 9 38 0 0 0.000274275 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183380 167183380 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:167183380C>A ENST00000476257.1 - 5 858 c.560G>T c.(559-561)gGa>gTa p.G187V SERPINI2_ENST00000471111.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G187V O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 187 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TTTCCAATCTCCTTTGAAATA 0.388000 15 35 3.27435e-08 1.69781e-07 0.00244969 1 0 MMS19 64210 broad.mit.edu 37 10 99228076 99228076 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:99228076C>T ENST00000438925.2 - 13 1486 c.1151G>A c.(1150-1152)cGg>cAg p.R384Q MMS19_ENST00000327238.10_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R384Q|MMS19_ENST00000327277.7_Missense_Mutation_p.R20Q|MMS19_ENST00000355839.6_Missense_Mutation_p.R341Q NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) 384 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) GTCACAGGCCCGGGCAGATGC 0.552000 Direct reversal of damage 22 74 0 0 0.00152264 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90665316 90665316 + Silent SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:90665316A>G ENST00000371927.3 + 3 1105 c.147A>G c.(145-147)cgA>cgG p.R49R STAMBPL1_ENST00000371924.1_Silent_p.R49R|STAMBPL1_ENST00000371926.3_Silent_p.R49R Q96FJ0 STALP_HUMAN STAM binding protein-like 1 49 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TCACTCCACGACGTTACTTTA 0.423000 27 58 0 0 0.000878237 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576387 33576387 + Silent SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:33576387C>A ENST00000504830.1 - 19 4079 c.3744G>T c.(3742-3744)ctG>ctT p.L1248L ADAMTS12_ENST00000352040.3_Silent_p.L1163L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1248 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L1248L(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CCAGAGGGAGCAGAGTGTTGG 0.522000 HNSCC(64;0.19) 56 177 1.46156e-29 8.67025e-29 0.000781405 1 0 ZNF791 163049 broad.mit.edu 37 19 12734543 12734543 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:12734543G>C ENST00000343325.4 + 2 195 c.33G>C c.(31-33)gtG>gtC p.V11V ZNF791_ENST00000446165.1_Silent_p.V11V|ZNF791_ENST00000458122.3_5'UTR|ZNF791_ENST00000540038.1_Intron|ZNF490_ENST00000465656.1_Intron NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 ATGTGTCTGTGAGCTTCAGCC 0.443000 4 132 0 0 0.00024832 0 0 MBTPS1 8720 broad.mit.edu 37 16 84088086 84088086 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:84088086G>T ENST00000343411.3 - 23 3622 c.3127C>A c.(3127-3129)Cag>Aag p.Q1043K NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 1043 Arg/Lys/Pro-rich (basic). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGGTGAACCTGCTGCATGAGC 0.642000 7 26 0.000274275 0.00137138 0.000274275 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140789785 140789785 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:140789785G>A ENST00000520790.1 + 1 2016 c.2016G>A c.(2014-2016)ctG>ctA p.L672L PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAGATACTGCCAGACCTCA 0.607000 66 54 0 0 0.000781405 0 0 BPTF 2186 broad.mit.edu 37 17 65914934 65914934 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:65914934G>T ENST00000321892.4 + 14 5847 c.5786G>T c.(5785-5787)gGa>gTa p.G1929V BPTF_ENST00000306378.6_Missense_Mutation_p.G1803V|BPTF_ENST00000335221.5_Missense_Mutation_p.G1929V|BPTF_ENST00000424123.3_Missense_Mutation_p.G1790V Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1929 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTCCTCCAGGAGGAGGGACT 0.493000 33 73 8.16721e-17 4.6861e-16 0.00209593 1 0 EIF3L 51386 broad.mit.edu 37 22 38258977 38258977 + Splice_Site SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr22:38258977G>A ENST00000412331.2 + 6 1019 c.435_splice c.e6-1 p.G146_splice EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Splice_Site_p.G48_splice NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 146 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCTTTACAGGGGGGACCTTCC 0.383000 19 48 0 0 0.00152264 0 0 DNAH8 1769 broad.mit.edu 37 6 38843598 38843598 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:38843598G>A ENST00000359357.3 + 51 7455 c.7201G>A c.(7201-7203)Gat>Aat p.D2401N DNAH8_ENST00000449981.2_Missense_Mutation_p.D2618N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D2365N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTATGTTACTGATTATGGTAA 0.328000 10 16 0 0 0.000978159 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357005 37357005 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:37357005C>T ENST00000217420.1 + 2 1564 c.1301C>T c.(1300-1302)aCg>aTg p.T434M NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 434 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGGGGGCTGACGCTGCGCTGC 0.682000 14 41 0 0 0.00185496 0 0 ESRP1 54845 broad.mit.edu 37 8 95677423 95677423 + Splice_Site SNP T T A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:95677423T>A ENST00000433389.2 + 9 1120 c.931_splice c.e9+1 p.G310_splice ESRP1_ENST00000454170.2_Splice_Site_p.G310_splice|ESRP1_ENST00000423620.2_Splice_Site_p.G310_splice|ESRP1_ENST00000358397.5_Splice_Site_p.G310_splice NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 310 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AAATTGCTGGTGGTAAGTGCC 0.343000 8 25 0 0 0.000157383 0 0 S100A11 6282 broad.mit.edu 37 1 152005278 152005278 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:152005278G>A ENST00000271638.2 - 3 297 c.178C>T c.(178-180)Ctt>Ttt p.L60F S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA NM_005620.1 NP_005611.1 P31949 S10AB_HUMAN S100 calcium binding protein A11 60 EF-hand 2. negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction cytoplasm|nucleus|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding large_intestine(1)|lung(1)|prostate(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATGCGGTCAAGGACACCAGGG 0.408000 10 54 0 0 0.000978159 0 0 TXNDC16 57544 broad.mit.edu 37 14 53010231 53010231 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr14:53010231G>C ENST00000281741.4 - 3 416 c.45C>G c.(43-45)gtC>gtG p.V15V TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 15 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) TGCACATTATGACAAAAGAGA 0.378000 16 50 0 0 0.000422831 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945466 48945466 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:48945466G>A ENST00000263269.3 + 12 2588 c.2500G>A c.(2500-2502)Gag>Aag p.E834K NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 834 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGACAAAATCGAGGTGATGAG 0.577000 49 124 0 0 0.000781405 0 0 POMGNT1 55624 broad.mit.edu 37 1 46658985 46658985 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:46658985C>T ENST00000371992.1 - 12 1752 c.1102G>A c.(1102-1104)Gtg>Atg p.V368M POMGNT1_ENST00000535522.1_Missense_Mutation_p.V346M|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.V368M|POMGNT1_ENST00000371986.3_Missense_Mutation_p.V368M NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 368 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) ACCTGAGACACGCGGGCATTC 0.587000 13 23 0 0 0.00185496 0 0 TRGV9 6983 broad.mit.edu 37 7 38357071 38357071 + RNA SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:38357071G>C ENST00000444775.2 - 0 1391 TGCCAGCGTTGATGTGTGGAG 0.468000 4 12 0 0 0.00116845 0 0 HEATR5A 25938 broad.mit.edu 37 14 31814337 31814337 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr14:31814337C>T ENST00000543095.2 - 20 3198 c.3014G>A c.(3013-3015)cGc>cAc p.R1005H HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1005H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R712H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R999H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R999H NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 999 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ATTCAAACAGCGACCAAGGCT 0.388000 35 111 0 0 0.00058488 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 34 0 0 6.4e-05 0 0 CLSTN1 22883 broad.mit.edu 37 1 9804038 9804038 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:9804038G>C ENST00000377298.4 - 9 2052 c.1260C>G c.(1258-1260)ctC>ctG p.L420L CLSTN1_ENST00000361311.4_Silent_p.L410L|CLSTN1_ENST00000377288.3_Silent_p.L420L NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 420 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CGTGGACATAGAGGGAGTAGT 0.458000 34 72 0 0 0.00058488 0 0 PCNXL3 399909 broad.mit.edu 37 11 65396095 65396095 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:65396095C>T ENST00000355703.3 + 23 4271 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1244 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 AGCTGCGTTTCGTGCTGACCT 0.602000 20 52 0 0 0.00229938 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826562 43826562 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:43826562T>C ENST00000389420.3 - 20 2772 c.2773A>G c.(2773-2775)Aga>Gga p.R925G ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R79G|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R925G NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 925 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCAAGGTTCTATATCCTTGA 0.383000 3 176 0 0 6.4e-05 0 0 TRPS1 7227 broad.mit.edu 37 8 116631947 116631947 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:116631947G>C ENST00000395715.3 - 3 955 c.378C>G c.(376-378)ttC>ttG p.F126L TRPS1_ENST00000519674.1_Missense_Mutation_p.F113L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F117L|TRPS1_ENST00000220888.5_Missense_Mutation_p.F113L|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 113 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTGGAGATGAGAAAGCCAACA 0.527000 Langer-Giedion syndrome 28 116 0 0 0.00106085 0 0 TNPO2 30000 broad.mit.edu 37 19 12822400 12822400 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:12822400C>T ENST00000425528.1 - 11 1275 c.918G>A c.(916-918)atG>atA p.M306I TNPO2_ENST00000588216.1_Missense_Mutation_p.M306I|TNPO2_ENST00000356861.5_Missense_Mutation_p.M306I|TNPO2_ENST00000441499.1_Missense_Mutation_p.M306I|TNPO2_ENST00000592287.1_Missense_Mutation_p.M306I|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.M306I O14787 TNPO2_HUMAN transportin 2 306 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCGAGTACTTCATCCCATTCA 0.592000 7 25 0 0 0.000157383 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937188 4937188 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:4937188G>T ENST00000512825.2 - 3 2007 c.596C>A c.(595-597)gCa>gAa p.A199E SLC52A1_ENST00000254853.5_Missense_Mutation_p.A199E|SLC52A1_ENST00000424747.1_Missense_Mutation_p.A199E Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 199 integral to plasma membrane receptor activity|riboflavin transporter activity GGCAGTCAGTGCCCAGAAGAA 0.637000 31 81 9.04072e-19 5.23017e-18 0.00058488 1 0 FMN2 56776 broad.mit.edu 37 1 240492663 240492663 + Silent SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:240492663C>A ENST00000319653.9 + 10 4562 c.4332C>A c.(4330-4332)atC>atA p.I1444I FMN2_ENST00000545751.1_Silent_p.I40I NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1444 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGTCACTAATCCCCAACTTTT 0.358000 16 64 1.3612e-06 7.00619e-06 0.000308642 1 0 RLF 6018 broad.mit.edu 37 1 40661334 40661334 + Missense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:40661334A>T ENST00000372771.4 + 4 532 c.505A>T c.(505-507)Aat>Tat p.N169Y NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 169 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GGAATTTGGGAATAATAACCT 0.353000 11 28 0 0 0.000978159 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459965 107459965 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:107459965C>T ENST00000409382.3 - 2 1079 c.469G>A c.(469-471)Ggc>Agc p.G157S ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G157S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G157S NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 157 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TCCCGTGGGCCTGGCTCCCCG 0.632000 52 129 0 0 0.000781405 0 0 MECOM 2122 broad.mit.edu 37 3 168838947 168838947 + Silent SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:168838947G>T ENST00000464456.1 - 6 1665 c.465C>A c.(463-465)gtC>gtA p.V155V MECOM_ENST00000468789.1_Silent_p.V155V|MECOM_ENST00000392736.3_Silent_p.V155V|MECOM_ENST00000460814.1_Silent_p.V155V|MECOM_ENST00000433243.2_Silent_p.V156V|MECOM_ENST00000494292.1_Silent_p.V343V|MECOM_ENST00000472280.1_Silent_p.V156V|MECOM_ENST00000264674.3_Silent_p.V220V NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCCGGGCACCGACATGCTGAG 0.522000 16 42 9.16793e-09 4.78922e-08 0.000566183 1 0 DENND4B 9909 broad.mit.edu 37 1 153905172 153905172 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:153905172G>A ENST00000361217.4 - 23 4123 c.3705C>T c.(3703-3705)gaC>gaT p.D1235D DENND4B_ENST00000474386.1_5'UTR NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1235 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGAGCCTTCGGTCACTGAGCA 0.627000 22 62 0 0 0.00229938 0 0 ATP8A1 10396 broad.mit.edu 37 4 42445599 42445599 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr4:42445599G>T ENST00000381668.5 - 33 3337 c.3106C>A c.(3106-3108)Cct>Act p.P1036T ATP8A1_ENST00000264449.10_Missense_Mutation_p.P1021T NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1036 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GACATATCAGGGGCCATCGGA 0.433000 11 28 4.36969e-10 2.31726e-09 0.00185496 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 5 42 0 0 0.000602214 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 59 0 0 0.00024832 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 47 0 0 6.4e-05 0 0 LRRCC1 85444 broad.mit.edu 37 8 86035688 86035688 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:86035688G>A ENST00000414626.2 + 6 1800 c.911G>A c.(910-912)aGa>aAa p.R304K LRRCC1_ENST00000360375.3_Missense_Mutation_p.R324K Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 324 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AAAGACCCCAGACCAAAAAGA 0.308000 4 155 0 0 0.00024832 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028060 59028060 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:59028060C>T ENST00000594051.1 - 2 1461 c.981G>A c.(979-981)ccG>ccA p.P327P ZBTB45_ENST00000354590.3_Silent_p.P327P|ZBTB45_ENST00000600990.1_Silent_p.P327P Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 327 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GTGCAACGGGCGGCCCTGGGG 0.692000 12 20 0 0 0.00185496 0 0 STARD3 10948 broad.mit.edu 37 17 37817129 37817129 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:37817129G>A ENST00000336308.5 + 12 1239 c.1021G>A c.(1021-1023)Gtg>Atg p.V341M STARD3_ENST00000580611.1_Missense_Mutation_p.V315M|STARD3_ENST00000394250.4_Missense_Mutation_p.V323M|STARD3_ENST00000544210.2_Missense_Mutation_p.V341M NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 341 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGCGGGCGGCGTGGTCTCCCC 0.607000 40 95 0 0 0.000953801 0 0 TMEM2 23670 broad.mit.edu 37 9 74347385 74347385 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:74347385C>T ENST00000377044.4 - 7 1984 c.1445G>A c.(1444-1446)aGa>aAa p.R482K TMEM2_ENST00000377066.5_Missense_Mutation_p.R419K NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 482 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AACCTCAGCTCTCATGTCTAC 0.408000 5 38 0 0 0.000602214 0 0 DCDC1 341019 broad.mit.edu 37 11 31312208 31312208 + Nonsense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:31312208C>A ENST00000597505.1 - 5 945 c.946G>T c.(946-948)Gaa>Taa p.E316* DCDC1_ENST00000452803.1_Nonsense_Mutation_p.E316* P59894 DCDC1_HUMAN doublecortin domain containing 1 316 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTCATTGTTTCTTTTCCCACT 0.323000 12 38 5.16669e-11 2.78206e-10 0.000978159 1 0 FPGS 2356 broad.mit.edu 37 9 130572339 130572339 + Missense_Mutation SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:130572339A>G ENST00000373245.1 + 12 1143 c.1093A>G c.(1093-1095)Atg>Gtg p.M365V FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.N388S|FPGS_ENST00000373247.2_Missense_Mutation_p.N414S|FPGS_ENST00000373225.3_Missense_Mutation_p.N364S Q05932 FOLC_HUMAN folylpolyglutamate synthase 0 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) TTGCTCTTCAATGCTACCGGG 0.687000 8 22 0 0 0.000673444 0 0 SGK1 6446 broad.mit.edu 37 6 134495871 134495871 + Splice_Site SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:134495871G>A ENST00000237305.7 - 1 163 c.76_splice c.e1+1 p.I25_splice SGK1_ENST00000475719.2_Splice_Site_p.I25_splice|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000413996.3_Intron NM_005627.3 NP_005618.2 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 25 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGCACTCACCGATGAGAATTG 0.542000 OREG0017675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 113 0 0 0.000814825 0 0 SULF1 23213 broad.mit.edu 37 8 70570762 70570762 + Nonsense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:70570762G>T ENST00000260128.4 + 23 3325 c.2608G>T c.(2608-2610)Gaa>Taa p.E870* SULF1_ENST00000458141.2_Nonsense_Mutation_p.E870*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E870*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E870*|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 870 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GGATGGATGGGAAGGTTAATC 0.433000 40 45 8.04919e-23 4.73482e-22 0.000781405 1 0 RECQL4 9401 broad.mit.edu 37 8 145737407 145737407 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:145737407C>T ENST00000428558.2 - 20 3321 c.3280G>A c.(3280-3282)Gag>Aag p.E1094K RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 1094 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGCGCTCCTCATCCTGCTGC 0.682000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 5 29 0 0 0.000602214 0 0 ART1 417 broad.mit.edu 37 11 3681420 3681420 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:3681420G>T ENST00000250693.1 + 3 772 c.671G>T c.(670-672)tGc>tTc p.C224F NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 224 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) ATCTGGACCTGCCTTGGGGCC 0.602000 20 55 8.28177e-16 4.67519e-15 0.000958276 1 0 B4GALNT1 2583 broad.mit.edu 37 12 58021971 58021971 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:58021971G>A ENST00000341156.4 - 9 1661 c.1077C>T c.(1075-1077)ttC>ttT p.F359F B4GALNT1_ENST00000418555.2_Silent_p.F304F NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 359 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCGTGAAGACGAAGTCGTCGT 0.652000 17 75 0 0 0.00074312 0 0 ANKS6 203286 broad.mit.edu 37 9 101552849 101552849 + Translation_Start_Site SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:101552849G>A ENST00000540940.1 - 0 36 ANKS6_ENST00000375018.1_Silent_p.H133H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000353234.4_Silent_p.H133H Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) CATCAGCCCCGTGATCCAACA 0.597000 11 29 0 0 0.000673444 0 0 CAP1 10487 broad.mit.edu 37 1 40525048 40525048 + Missense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:40525048A>T ENST00000372797.3 + 2 591 c.30A>T c.(28-30)agA>agT p.R10S CAP1_ENST00000372805.3_Missense_Mutation_p.R10S|CAP1_ENST00000372792.2_Missense_Mutation_p.R10S|CAP1_ENST00000372798.1_Missense_Mutation_p.R10S|CAP1_ENST00000372802.1_Missense_Mutation_p.R10S|CAP1_ENST00000340450.3_Missense_Mutation_p.R10S NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 10 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGTAGAAAGATTGGAGAGGG 0.453000 27 69 0 0 0.000586117 0 0 ESRP1 54845 broad.mit.edu 37 8 95677422 95677422 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:95677422G>T ENST00000433389.2 + 9 1119 c.929G>T c.(928-930)gGt>gTt p.G310V ESRP1_ENST00000454170.2_Missense_Mutation_p.G310V|ESRP1_ENST00000423620.2_Missense_Mutation_p.G310V|ESRP1_ENST00000358397.5_Missense_Mutation_p.G310V NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 310 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AAAATTGCTGGTGGTAAGTGC 0.348000 9 26 0.000274275 0.00137138 0.000274275 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 59 0 0 0.00024832 0 0 DNAJC13 23317 broad.mit.edu 37 3 132166224 132166224 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:132166224C>T ENST00000260818.6 + 4 452 c.204C>T c.(202-204)ttC>ttT p.F68F DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 68 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 GAACGGAGTTCAACCTCACAT 0.368000 13 69 0 0 0.00185496 0 0 THOP1 7064 broad.mit.edu 37 19 2810358 2810358 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:2810358G>A ENST00000307741.6 + 10 1715 c.1512G>A c.(1510-1512)ccG>ccA p.P504P THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000395212.4_Silent_p.P15P|THOP1_ENST00000586677.1_Silent_p.P383P NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 504 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGGCGCCGTCGCAGATGC 0.682000 17 25 0 0 0.00074312 0 0 DGKK 139189 broad.mit.edu 37 X 50119800 50119800 + RNA SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chrX:50119800G>A ENST00000376025.2 - 0 3287 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TGCTGCATCTGGGCATACTCC 0.502000 8 10 0 0 0.000157383 0 0 RLF 6018 broad.mit.edu 37 1 40661333 40661333 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:40661333G>A ENST00000372771.4 + 4 531 c.504G>A c.(502-504)ggG>ggA p.G168G NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 168 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TGGAATTTGGGAATAATAACC 0.358000 11 29 0 0 0.000978159 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673457 141673457 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:141673457G>C ENST00000547270.1 - 1 116 c.33C>G c.(31-33)tcC>tcG p.S11S NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 11 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TGACTTCATAGGACACAGTGC 0.433000 19 68 0 0 0.00278032 0 0 WWC1 23286 broad.mit.edu 37 5 167850580 167850580 + Silent SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:167850580C>G ENST00000265293.4 + 11 1819 c.1317C>G c.(1315-1317)ccC>ccG p.P439P WWC1_ENST00000521089.1_Silent_p.P439P NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 439 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity p.P439P(1) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCAGCAGCCCCGGATCCCTCA 0.617000 32 111 0 0 0.00178596 0 0 MFSD10 10227 broad.mit.edu 37 4 2934445 2934445 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr4:2934445C>T ENST00000329687.4 - 4 947 c.413G>A c.(412-414)cGg>cAg p.R138Q MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 138 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGCAAAGCTCCGAGAGGTGGC 0.652000 15 64 0 0 0.000566183 0 0 PIGC 5279 broad.mit.edu 37 1 172411603 172411603 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:172411603C>T ENST00000367728.1 - 1 1623 c.160G>A c.(160-162)Gag>Aag p.E54K PIGC_ENST00000344529.4_Missense_Mutation_p.E54K|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.E54K|PIGC_ENST00000484368.1_Intron Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 54 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 ACACTGGACTCAAATACCACA 0.498000 32 109 0 0 0.0024448 0 0 SMG6 23293 broad.mit.edu 37 17 2200598 2200598 + Missense_Mutation SNP T T A rs143802482 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:2200598T>A ENST00000544865.1 - 4 2507 c.1997A>T c.(1996-1998)aAg>aTg p.K666M SMG6_ENST00000263073.5_Missense_Mutation_p.K697M Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 697 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CAGTTTGAACTTGTAAGTAAC 0.358000 34 93 0 0 0.00209593 0 0 LSM2 57819 broad.mit.edu 37 6 31765655 31765655 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:31765655G>A ENST00000375661.5 - 5 393 c.167C>T c.(166-168)tCa>tTa p.S56L LSM2_ENST00000491421.1_5'UTR NM_021177.4 NP_067000.1 Q9Y333 LSM2_HUMAN LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) 56 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytosol|nucleoplasm U6 snRNA binding large_intestine(1)|lung(1) 2 GTTCTTCACTGATAACTAGAC 0.493000 47 154 0 0 0.000781405 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615543 140615543 + RNA SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:140615543G>A ENST00000526308.1 + 0 1606 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CATCGGCAGCGTCAGCGCTAC 0.642000 50 209 0 0 0.000781405 0 0 BCOR 54880 broad.mit.edu 37 X 39932420 39932420 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chrX:39932420G>T ENST00000342274.4 - 4 2541 c.2179C>A c.(2179-2181)Ccc>Acc p.P727T BCOR_ENST00000378455.4_Missense_Mutation_p.P727T|BCOR_ENST00000397354.3_Missense_Mutation_p.P727T|BCOR_ENST00000378444.4_Missense_Mutation_p.P727T NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 727 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 ATCAACATGGGATGCACCATG 0.582000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 30 56 6.38683e-12 3.46572e-11 0.001512 1 0 FAM81A 145773 broad.mit.edu 37 15 59806519 59806519 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:59806519C>A ENST00000288228.5 + 7 869 c.682C>A c.(682-684)Cag>Aag p.Q228K NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 228 endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 ACTCAGTAACCAGATATTATC 0.299000 16 28 0.000308642 0.00153227 0.000308642 1 0 BLZF1 8548 broad.mit.edu 37 1 169345895 169345895 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:169345895G>C ENST00000367808.3 + 3 569 c.146G>C c.(145-147)aGt>aCt p.S49T BLZF1_ENST00000329281.2_Missense_Mutation_p.S49T|BLZF1_ENST00000367807.3_Missense_Mutation_p.S49T Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 49 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) AGTCTTCAGAGTCCATGGAAG 0.438000 15 54 0 0 0.000422831 0 0 ITPA 3704 broad.mit.edu 37 20 3193868 3193868 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:3193868T>G ENST00000380113.3 + 2 312 c.120T>G c.(118-120)atT>atG p.I40M ITPA_ENST00000455664.1_Missense_Mutation_p.I23M|ITPA_ENST00000399838.3_Intron|ITPA_ENST00000483354.1_3'UTR NM_033453.3 NP_258412.1 Q9BY32 ITPA_HUMAN inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 40 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1) 6 CACAGAAAATTGACCGTATGT 0.403000 25 51 0 0 0.00047179 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 4 40 0 0 0.000602214 0 0 ING1 3621 broad.mit.edu 37 13 111368155 111368155 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr13:111368155T>G ENST00000375774.3 + 1 827 c.365T>G c.(364-366)gTg>gGg p.V122G ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 122 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCCTGGCGGGTGTCGCCCCTG 0.721000 4 5 0 0 0.000274275 0 0 APBA1 320 broad.mit.edu 37 9 72047505 72047505 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:72047505C>T ENST00000265381.4 - 12 2611 c.2389G>A c.(2389-2391)Gtg>Atg p.V797M NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 797 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GGGGTGGCCACGACGCTCTGT 0.607000 20 38 0 0 0.000958276 0 0 ZNF783 100289678 broad.mit.edu 37 7 148979254 148979254 + Missense_Mutation SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:148979254C>G ENST00000434415.1 + 6 1624 c.1461C>G c.(1459-1461)atC>atG p.I487M ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 487 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) ACCAGCGCATCCACACCGGTG 0.716000 10 34 0 0 0.000978159 0 0 TSC22D1 8848 broad.mit.edu 37 13 45010654 45010654 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr13:45010654C>T ENST00000261489.2 - 1 327 c.111G>A c.(109-111)gtG>gtA p.V37V TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron NM_006022.3 NP_006013.1 Q15714 T22D1_HUMAN TSC22 domain family, member 1 832 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TATCAAGTCTCACAGAAGCGT 0.383000 28 158 0 0 0.00106085 0 0 OR2C1 4993 broad.mit.edu 37 16 3406177 3406177 + Silent SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:3406177C>G ENST00000304936.2 + 1 289 c.237C>G c.(235-237)ccC>ccG p.P79P NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GTTCAGTCCCCCAAATGCTGA 0.547000 56 44 0 0 0.000781405 0 0 PHF21A 51317 broad.mit.edu 37 11 45967551 45967551 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:45967551C>T ENST00000257821.4 - 14 1915 c.1292G>A c.(1291-1293)cGt>cAt p.R431H PHF21A_ENST00000418153.2_Missense_Mutation_p.R430H|PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 430 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TTTTGGAGGACGACCTATATA 0.488000 20 72 0 0 0.00278032 0 0 NCBP2 22916 broad.mit.edu 37 3 196664503 196664503 + Missense_Mutation SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:196664503C>G ENST00000447325.1 - 3 416 c.67G>C c.(67-69)Gat>Cat p.D23H NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.D75H|NCBP2_ENST00000427641.2_Splice_Site|NCBP2_ENST00000321256.5_Missense_Mutation_p.D93H|NCBP2_ENST00000422610.1_Missense_Mutation_p.D23H P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 93 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) TTTTCCGCATCTGCGCGTGAG 0.448000 21 77 0 0 0.00229938 0 0 ZNF596 169270 broad.mit.edu 37 8 196070 196070 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:196070G>A ENST00000398612.1 + 6 1606 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ZNF596_ENST00000308811.4_Missense_Mutation_p.R408Q|ZNF596_ENST00000320552.2_Missense_Mutation_p.R338Q NM_001042415.1|NM_001042416.1 NP_001035880.1|NP_001035881.1 Q8TC21 ZN596_HUMAN zinc finger protein 596 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R408Q(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5) 14 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) GACCTCAGACGACATGAGAGA 0.438000 20 38 0 0 0.00121646 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183382 167183382 + Silent SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:167183382T>C ENST00000476257.1 - 5 856 c.558A>G c.(556-558)aaA>aaG p.K186K SERPINI2_ENST00000471111.1_Silent_p.K186K|SERPINI2_ENST00000461846.1_Silent_p.K186K|SERPINI2_ENST00000264677.4_Silent_p.K186K O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 186 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TCCAATCTCCTTTGAAATAAA 0.393000 16 34 0 0 0.000308642 0 0 TP53 7157 broad.mit.edu 37 17 7579575 7579575 + Nonsense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:7579575G>A ENST00000420246.2 - 4 244 c.112C>T c.(112-114)Caa>Taa p.Q38* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 38 Interaction with HRMT1L2.|Transcription activation (acidic). 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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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) TCCATTGCTTGGGACGGCAAG 0.592000 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) 51 180 0 0 0.000781405 0 0 HP 3240 broad.mit.edu 37 16 72094489 72094489 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:72094489C>T ENST00000355906.5 + 7 979 c.921C>T c.(919-921)gaC>gaT p.D307D HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.D248D|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.D248D|HP_ENST00000565574.1_Silent_p.D248D NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 307 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CTGACCAAGACCAATGCATAA 0.493000 15 42 0 0 0.00244969 0 0 BAZ1B 9031 broad.mit.edu 37 7 72884760 72884760 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:72884760C>A ENST00000339594.4 - 8 2985 c.2647G>T c.(2647-2649)Gct>Tct p.A883S BAZ1B_ENST00000404251.1_Missense_Mutation_p.A883S NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 883 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GCTTTCTCAGCAGCTGCTTTG 0.428000 34 55 3.11337e-16 1.77184e-15 0.00283554 1 0 MAP2 4133 broad.mit.edu 37 2 210518097 210518097 + Nonsense_Mutation SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:210518097C>G ENST00000360351.4 + 4 709 c.203C>G c.(202-204)tCa>tGa p.S68* MAP2_ENST00000361559.4_Nonsense_Mutation_p.S68*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.S68*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.S68* NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 68 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GGCACCTATTCAAATACCAAA 0.532000 23 52 0 0 0.00188189 0 0 TADA2A 6871 broad.mit.edu 37 17 35800747 35800747 + Silent SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:35800747A>G ENST00000394395.2 + 6 599 c.426A>G c.(424-426)acA>acG p.T142T TADA2A_ENST00000417170.1_Silent_p.T142T|TADA2A_ENST00000586023.1_Silent_p.T142T|TADA2A_ENST00000225396.6_Silent_p.T142T|TADA2A_ENST00000591992.1_3'UTR NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 142 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 CTGCTGACACAGCCATTCCAT 0.423000 5 37 0 0 0.000602214 0 0 OR1N2 138882 broad.mit.edu 37 9 125316206 125316206 + Missense_Mutation SNP A A C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:125316206A>C ENST00000373688.2 + 1 816 c.758A>C c.(757-759)aAg>aCg p.K253T NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GGGAGATGGAAGGCCTTCTCT 0.498000 54 125 0 0 0.000781405 0 0 ZNF451 26036 broad.mit.edu 37 6 56993596 56993596 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:56993596G>A ENST00000370706.4 + 5 626 c.382G>A c.(382-384)Gaa>Aaa p.E128K RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000370711.5_3'UTR|ZNF451_ENST00000357489.3_Missense_Mutation_p.E128K NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTCTGATACAGAAGCAGCAAG 0.373000 24 48 0 0 0.000720815 0 0 MUC16 94025 broad.mit.edu 37 19 9048464 9048464 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:9048464C>A ENST00000397910.4 - 5 33370 c.33167G>T c.(33166-33168)aGt>aTt p.S11056I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11058 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTTGGAATACTTGTACTGTT 0.498000 30 118 7.26314e-15 4.03508e-14 0.00127121 1 0 WSCD2 9671 broad.mit.edu 37 12 108618515 108618515 + Splice_Site SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:108618515G>T ENST00000332082.4 + 6 1500 c.e6-1 WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site Q2TBF2 WSCD2_HUMAN WSC domain containing 2 integral to membrane p.?(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGGCTCTTCAGATGGAAGTGC 0.517000 22 86 9.95505e-16 5.57483e-15 0.00229938 1 0 TNNT3 7140 broad.mit.edu 37 11 1956071 1956071 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:1956071G>A ENST00000381558.1 + 13 858 c.579G>A c.(577-579)aaG>aaA p.K193K TNNT3_ENST00000381549.3_Silent_p.K193K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000446240.1_Silent_p.K182K|TNNT3_ENST00000381561.4_Silent_p.K204K|TNNT3_ENST00000381579.3_Silent_p.K193K|TNNT3_ENST00000397304.2_Silent_p.K182K|TNNT3_ENST00000360603.3_Silent_p.K195K|TNNT3_ENST00000381589.3_Silent_p.K199K|TNNT3_ENST00000278317.6_Silent_p.K201K|TNNT3_ENST00000397301.1_Silent_p.K212K|TNNT3_ENST00000381548.3_Silent_p.K203K P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 212 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) ACAAGGCCAAGGAGCTCTGGG 0.612000 46 149 0 0 0.000781405 0 0 ANKHD1 54882 broad.mit.edu 37 5 139781714 139781714 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:139781714G>A ENST00000297183.6 + 1 286 c.162G>A c.(160-162)tcG>tcA p.S54S ANKHD1_ENST00000394722.3_Silent_p.S54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S54S|ANKHD1_ENST00000394723.3_Silent_p.S54S|ANKHD1_ENST00000360839.2_Silent_p.S54S 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) GGCCAGCGTCGGGAGTcggca 0.766000 16 9 0 0 0.000566183 0 0 FAM101A 144347 broad.mit.edu 37 12 124798965 124798965 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:124798965C>A ENST00000389727.3 + 3 545 c.545C>A c.(544-546)aCc>aAc p.T182N FAM101A_ENST00000324038.3_Missense_Mutation_p.T101N|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101N|FAM101A_ENST00000338359.4_Missense_Mutation_p.T101N Q6ZTI6 F101A_HUMAN family with sequence similarity 101, member A 182 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) TTCCGGACCACCCTGCACTGC 0.706000 26 59 7.33532e-06 3.74797e-05 0.000586117 1 0 RBP3 5949 broad.mit.edu 37 10 48388506 48388506 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:48388506G>A ENST00000224600.4 - 1 2485 c.2372C>T c.(2371-2373)aCg>aTg p.T791M NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 791 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.T791M(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CGGGATGGCCGTGGAGTAGCT 0.622000 8 17 0 0 0.000274275 0 0 AK5 26289 broad.mit.edu 37 1 77984359 77984359 + Nonsense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:77984359G>T ENST00000344720.5 + 11 2206 c.1180G>T c.(1180-1182)Gaa>Taa p.E394* AK5_ENST00000354567.2_Nonsense_Mutation_p.E420* NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 420 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 ATCAGAATCTGAAAGAAGCAA 0.488000 19 49 1.56452e-12 8.55599e-12 0.000958276 1 0 SDCBP 6386 broad.mit.edu 37 8 59494271 59494271 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:59494271T>C ENST00000523483.1 + 10 2443 c.929T>C c.(928-930)cTa>cCa p.L310P SDCBP_ENST00000447267.2_Missense_Mutation_p.L236P|SDCBP_ENST00000413219.2_Missense_Mutation_p.L290P|SDCBP_ENST00000424270.2_Missense_Mutation_p.L284P|SDCBP_ENST00000520168.1_Missense_Mutation_p.L231P|SDCBP_ENST00000447182.2_Missense_Mutation_p.L289P|SDCBP_ENST00000260130.4_Missense_Mutation_p.L290P|SDCBP_ENST00000422546.2_Missense_Mutation_p.L289P O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 290 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATGAAAAGCCTAATGGACCAC 0.388000 3 129 0 0 0.000602214 0 0 PARD3B 117583 broad.mit.edu 37 2 206265816 206265816 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:206265816G>C ENST00000406610.2 + 19 2917 c.2710G>C c.(2710-2712)Gag>Cag p.E904Q PARD3B_ENST00000358768.2_Missense_Mutation_p.E842Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E835Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E904Q NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 904 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GAGAGAAGAAGAGCTGGAGAA 0.428000 3 13 0 0 0.00024832 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144075958 144075958 + Splice_Site SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:144075958C>A ENST00000056217.5 + 14 4809 c.4636_splice c.e14+1 p.D1545_splice ARHGEF5_ENST00000471847.2_Splice_Site_p.D467_splice NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1545 SH3. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AGAGCAGTGACGGTAAGCGGG 0.592000 35 96 6.84511e-11 3.65769e-10 0.00058488 1 0 HKDC1 80201 broad.mit.edu 37 10 70992576 70992576 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:70992576G>T ENST00000354624.5 + 3 416 c.283G>T c.(283-285)Gtg>Ttg p.V95L HKDC1_ENST00000395086.2_Missense_Mutation_p.V95L NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 95 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGTGCTGAAGGTGCAAGTCGC 0.502000 37 100 1.42033e-22 8.28527e-22 0.000814825 1 0 TNKS2 80351 broad.mit.edu 37 10 93619309 93619309 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:93619309C>T ENST00000371627.4 + 25 3564 c.3185C>T c.(3184-3186)gCt>gTt p.A1062V NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 1062 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) ATTTATTTTGCTGAAAACTCT 0.403000 25 62 0 0 0.00278032 0 0 ZNF790 388536 broad.mit.edu 37 19 37309438 37309438 + Missense_Mutation SNP T T A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:37309438T>A ENST00000356725.4 - 5 1928 c.1808A>T c.(1807-1809)aAc>aTc p.N603I CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTGAGCAAAGTTTGACTCATG 0.323000 34 94 0 0 0.00283554 0 0 CHRD 8646 broad.mit.edu 37 3 184104380 184104380 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:184104380C>T ENST00000204604.1 + 16 2279 c.2033C>T c.(2032-2034)gCg>gTg p.A678V CHRD_ENST00000348986.3_Missense_Mutation_p.A638V|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A678V NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 678 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCTCTGCTGCGCCGCCTGTG 0.711000 5 17 0 0 0.000602214 0 0 CORIN 10699 broad.mit.edu 37 4 47605597 47605597 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr4:47605597T>C ENST00000273857.4 - 20 2628 c.2629A>G c.(2629-2631)Acc>Gcc p.T877A CORIN_ENST00000502252.1_Missense_Mutation_p.T810A|CORIN_ENST00000505909.1_Missense_Mutation_p.T840A|CORIN_ENST00000508498.1_Missense_Mutation_p.T738A NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 877 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AGGATGATGGTCTTCACAAAG 0.488000 3 50 0 0 6.4e-05 0 0 GFM1 85476 broad.mit.edu 37 3 158363475 158363475 + Nonsense_Mutation SNP C C T rs119470019 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:158363475C>T ENST00000486715.1 + 2 496 c.139C>T c.(139-141)Cga>Tga p.R47* GFM1_ENST00000478576.1_Nonsense_Mutation_p.R47*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.R47* NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 47 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) TGAAAAAATACGAAATATTGG 0.383000 27 53 0 0 0.000878237 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47338951 47338951 + RNA SNP G G A rs17102753 by1000genomes TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:47338951G>A ENST00000505841.1 - 0 843 NR_002788.2 AAATCCTGGCGTCTTTTCTGA 0.353000 11 36 0 0 0.000978159 0 0 SETD6 79918 broad.mit.edu 37 16 58552079 58552079 + Missense_Mutation SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:58552079A>G ENST00000394266.4 + 7 766 c.710A>G c.(709-711)aAc>aGc p.N237S SETD6_ENST00000219315.4_Missense_Mutation_p.N306S|SETD6_ENST00000310682.2_Missense_Mutation_p.N282S|SETD6_ENST00000418480.1_Intron Q8TBK2 SETD6_HUMAN SET domain containing 6 306 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 TATCCTGACAACACAGATGAC 0.428000 17 49 0 0 0.000422831 0 0 ARMC1 55156 broad.mit.edu 37 8 66539564 66539564 + Translation_Start_Site SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:66539564G>C ENST00000458464.2 - 0 278 ARMC1_ENST00000276569.3_Missense_Mutation_p.L24V|ARMC1_ENST00000523384.1_5'UTR Q9NVT9 ARMC1_HUMAN armadillo repeat containing 1 metal ion transport metal ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1) 14 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) TCTGCTGCTAGATCCCGTAAC 0.463000 32 168 0 0 0.0024448 0 0 ALG2 85365 broad.mit.edu 37 9 101980890 101980890 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:101980890G>C ENST00000476832.1 - 2 638 c.577C>G c.(577-579)Cac>Gac p.H193D ALG2_ENST00000319033.6_Missense_Mutation_p.H100D NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 193 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding p.H193D(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) GGGTCTATGTGAGACAGGGAC 0.453000 13 97 0 0 0.00244969 0 0 JMJD1C 221037 broad.mit.edu 37 10 64966567 64966567 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:64966567G>A ENST00000399262.2 - 10 5080 c.4862C>T c.(4861-4863)aCt>aTt p.T1621I JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1439I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T1402I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1402I NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1621 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AGATTCATAAGTTCTTTTGGC 0.348000 24 71 0 0 0.00278032 0 0 NOS3 4846 broad.mit.edu 37 7 150693876 150693876 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:150693876C>T ENST00000297494.3 + 5 802 c.445C>T c.(445-447)Cgg>Tgg p.R149W NOS3_ENST00000467517.1_Missense_Mutation_p.R149W|NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 149 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R149R(1) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCACGAACAGCGGCTTCAAGA 0.657000 5 21 0 0 0.000602214 0 0 INPP5J 27124 broad.mit.edu 37 22 31520883 31520883 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr22:31520883C>T ENST00000331075.5 + 2 207 c.158C>T c.(157-159)tCg>tTg p.S53L INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000400294.2_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.S53L|INPP5J_ENST00000405300.1_5'UTR Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 53 cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CTAGGACCCTCGGAACCAAGG 0.572000 11 34 0 0 0.000978159 0 0 FAT2 2196 broad.mit.edu 37 5 150929062 150929062 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:150929062C>T ENST00000261800.5 - 8 4595 c.4583G>A c.(4582-4584)cGa>cAa p.R1528Q NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1528 Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCTGGTCTCGGACCTATGG 0.483000 26 12 0 0 0.000586117 0 0 OR5D13 390142 broad.mit.edu 37 11 55540981 55540981 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:55540981C>T ENST00000361760.1 + 1 68 c.68C>T c.(67-69)cCa>cTa p.P23L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TCAGAATACCCAGAAATCCAG 0.373000 9 120 0 0 0.000442599 0 0 ADCY2 108 broad.mit.edu 37 5 7396480 7396480 + Missense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:7396480A>T ENST00000338316.4 + 1 160 c.71A>T c.(70-72)gAc>gTc p.D24V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 24 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGCGGCGGAGACGGGCTGCCG 0.726000 16 22 0 0 0.000566183 0 0 FAM129B 64855 broad.mit.edu 37 9 130269539 130269539 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:130269539G>A ENST00000373312.3 - 14 2039 c.1826C>T c.(1825-1827)tCa>tTa p.S609L FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 609 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GAGGGTGGCTGACTCCGGGGT 0.697000 5 52 0 0 0.00116845 0 0 USH2A 7399 broad.mit.edu 37 1 216462695 216462695 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:216462695G>C ENST00000366943.2 - 11 2284 c.1898C>G c.(1897-1899)tCg>tGg p.S633W USH2A_ENST00000307340.3_Missense_Mutation_p.S633W|USH2A_ENST00000366942.3_Missense_Mutation_p.S633W O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 633 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCTATGGCCGAAGGATCTGC 0.408000 HNSCC(13;0.011) 17 54 0 0 0.000422831 0 0 TRIM69 140691 broad.mit.edu 37 15 45047401 45047401 + Nonsense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:45047401A>T ENST00000559390.1 + 3 1238 c.310A>T c.(310-312)Aag>Tag p.K104* TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.K104*|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558173.1_De_novo_Start_InFrame Q86WT6 TRI69_HUMAN tripartite motif containing 69 104 Necessary for nuclear localization (By similarity). K -> R (in dbSNP:rs17588988). apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AGAGAAGATTAAGAAGTTACC 0.438000 23 33 0 0 0.00229938 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 4 83 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179616392 179616392 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:179616392T>C ENST00000360870.5 - 46 10957 c.10735A>G c.(10735-10737)Agg>Ggg p.R3579G TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3574 Ig-like 21. 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) GCTAGTAACCTATAACTTCCA 0.373000 3 129 0 0 6.4e-05 0 0 TAF1L 138474 broad.mit.edu 37 9 32633291 32633291 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:32633291C>T ENST00000242310.4 - 1 2376 c.2287G>A c.(2287-2289)Gag>Aag p.E763K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 763 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGGTTGTTCTCAAGTGCCTGC 0.433000 8 99 0 0 0.000274275 0 0 UGT3A2 167127 broad.mit.edu 37 5 36066838 36066838 + Silent SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:36066838C>A ENST00000282507.3 - 1 155 c.54G>T c.(52-54)ctG>ctT p.L18L UGT3A2_ENST00000513300.1_Silent_p.L18L|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 18 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCTCTGAGAGCAGGACCCCAG 0.607000 97 131 3.57987e-33 2.1418e-32 0.000781405 1 0 POLG 5428 broad.mit.edu 37 15 89864134 89864134 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:89864134G>A ENST00000268124.5 - 18 3177 c.2844C>T c.(2842-2844)atC>atT p.I948I POLG_ENST00000442287.2_Silent_p.I948I NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 948 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CGTAGTTGAAGATTTTGGCAT 0.557000 DNA polymerases (catalytic subunits) 14 32 0 0 0.000308642 0 0 AMBP 259 broad.mit.edu 37 9 116840403 116840403 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:116840403G>C ENST00000265132.3 - 1 349 c.87C>G c.(85-87)atC>atG p.I29M NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 29 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCTGCACTTGGATGTTGTCGG 0.637000 14 105 0 0 0.00185496 0 0 POTEG 404785 broad.mit.edu 37 14 19553628 19553628 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr14:19553628G>T ENST00000409832.3 + 1 264 c.212G>T c.(211-213)tGg>tTg p.W71L NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 71 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TGCTTCCCCTGGTGCAGGGGG 0.587000 94 950 1.79293e-35 1.09135e-34 0.000781405 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 57 0 0 0.00024832 0 0 CSDE1 7812 broad.mit.edu 37 1 115267850 115267850 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:115267850G>A ENST00000438362.2 - 15 2261 c.1883C>T c.(1882-1884)aCa>aTa p.T628I CSDE1_ENST00000369530.1_Missense_Mutation_p.T597I|CSDE1_ENST00000358528.4_Missense_Mutation_p.T582I|CSDE1_ENST00000339438.6_Missense_Mutation_p.T551I|CSDE1_ENST00000261443.5_Missense_Mutation_p.T551I|CSDE1_ENST00000534699.1_Missense_Mutation_p.T582I|CSDE1_ENST00000530886.1_Missense_Mutation_p.T452I NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 582 CSD 8. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCTGAGTGTGTTTTGTTCAC 0.423000 44 121 0 0 0.00195071 0 0 WNK1 65125 broad.mit.edu 37 12 993920 993920 + Missense_Mutation SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:993920A>G ENST00000537687.1 + 19 5373 c.4730A>G c.(4729-4731)gAa>gGa p.E1577G WNK1_ENST00000340908.4_Missense_Mutation_p.E910G|WNK1_ENST00000535572.1_Missense_Mutation_p.E1070G|WNK1_ENST00000530271.2_Missense_Mutation_p.E1815G|WNK1_ENST00000315939.6_Missense_Mutation_p.E1317G NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1317 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAAATGACAGAAGGACCCAAC 0.478000 37 71 0 0 0.00128727 0 0 CDH12 1010 broad.mit.edu 37 5 21752115 21752115 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:21752115G>T ENST00000382254.1 - 15 3202 c.2116C>A c.(2116-2118)Ccc>Acc p.P706T RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 706 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCTTCCATGGGTGGTCTCTGA 0.448000 HNSCC(59;0.17) 23 92 1.64293e-13 9.05554e-13 0.00047179 1 0 MYH4 4622 broad.mit.edu 37 17 10362627 10362627 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:10362627C>T ENST00000255381.2 - 15 1638 c.1528G>A c.(1528-1530)Gag>Aag p.E510K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 510 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AACTCCCACTCGATGCCTTCC 0.473000 26 103 0 0 0.000586117 0 0 OR4N4 283694 broad.mit.edu 37 15 22382574 22382574 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:22382574C>A ENST00000328795.4 + 1 193 c.102C>A c.(100-102)ttC>ttA p.F34L RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTTAATTTTCTACCTTATCA 0.423000 67 98 2.36135e-34 1.42495e-33 0.000781405 1 0 EPHA2 1969 broad.mit.edu 37 1 16475417 16475418 + Frame_Shift_Ins INS - - CGCT TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:16475417_16475418insCGCT ENST00000358432.5 - 3 432_433 c.278_279insAGCG c.(277-279)catfs p.H93fs EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 93 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CAATGAAGATACGCTCAGCCTC 0.545 37 54 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33237578 33237578 + Frame_Shift_Del DEL C C - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:33237578delC ENST00000401073.2 + 6 2868 c.2798delC c.(2797-2799)ggfs p.A933fs KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.A874fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.A885fs|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 874 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTCCATGCTGCGGTCCGACTC 0.706 8 21 --- --- --- --- ZMYM1 79830 broad.mit.edu 37 1 35578796 35578798 + In_Frame_Del DEL TAT TAT - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:35578796_35578798delTAT ENST00000373330.1 + 11 1539_1541 c.1365_1367delTAT c.(1363-1368)agt>ag p.SI455del ZMYM1_ENST00000359858.4_In_Frame_Del_p.SI455del|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 455 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATCACGAAGTATTAAAAAATCT 0.300 19 31 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 50 --- --- --- --- FOSL2 2355 broad.mit.edu 37 2 28634924 28634925 + Frame_Shift_Ins INS - - GC TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:28634924_28634925insGC ENST00000264716.4 + 4 1453_1454 c.590_591insGC c.(589-591)gcgfs p.A197fs FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.A189fs|FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.A158fs NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 197 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) AGCCCCGAGGAGCGCCGATCGC 0.639 29 70 --- --- --- --- IGKV1-8 28942 broad.mit.edu 37 2 89292328 89292328 + RNA DEL C C - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:89292328delC ENST00000495489.1 - 0 102 TGAGTAAATTCCTAGTGTTCT 0.502 45 181 --- --- --- --- IGKV1D-8 28904 broad.mit.edu 37 2 90259849 90259849 + RNA DEL G G - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:90259849delG ENST00000471857.1 + 0 236 AGAACACTATGAATTTACTCA 0.483 11 208 --- --- --- --- KCNJ3 3760 broad.mit.edu 37 2 155711297 155711297 + Frame_Shift_Del DEL T T - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:155711297delT ENST00000295101.2 + 3 1455 c.978delT c.(976-978)cgfs p.R326fs KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 326 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GGGGTCATCGTTTTTTTCCTG 0.383 20 57 --- --- --- --- HYAL2 8692 broad.mit.edu 37 3 50356381 50356389 + Splice_Site DEL GCTTACCGT GCTTACCGT - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:50356381_50356389delGCTTACCGT ENST00000447092.1 - 2 3301_3304 c.1011_splice c.e2+1 p.337_splice HYAL2_ENST00000395139.3_Splice_Site_p.337_splice|HYAL2_ENST00000442581.1_Splice_Site_p.337_splice|HYAL2_ENST00000357750.4_Splice_Site_p.337_splice Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 337 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) GCTGGGTCTCGCTTACCGTGCTTGTGGTG 0.584 9 43 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26881690 26881690 + Frame_Shift_Del DEL T T - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:26881690delT ENST00000231021.4 - 12 2097 c.1925delA c.(1924-1926)agfs p.K642fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 642 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CAGAGGTTCCTTTTTTCTTTG 0.398 8 156 --- --- --- --- SUDS3P1 285647 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 4 6 --- --- --- --- TAS2R7 50837 broad.mit.edu 37 12 10954441 10954443 + In_Frame_Del DEL GAG GAG - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:10954441_10954443delGAG ENST00000240687.2 - 1 783_785 c.727_729delCTC c.(727-729)del p.L243del NM_023919.2 NP_076408.1 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 243 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 AGGCAATAAAGAGGAGAAGGAAG 0.483 10 61 --- --- --- --- PAPD5 64282 broad.mit.edu 37 16 50259097 50259097 + Frame_Shift_Del DEL T T - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:50259097delT ENST00000357464.3 + 11 1419 c.1419delT c.(1417-1419)tgfs p.C473fs PAPD5_ENST00000561678.1_Frame_Shift_Del_p.C442fs|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.C552fs|PAPD5_ENST00000573002.1_Intron Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 443 Ser-rich. cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(1)|lung(2) 4 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) TTGGAAAATGTAGAAGTAAAA 0.393 11 26 --- --- --- --- CTC-490G23.2 0 broad.mit.edu 37 19 43835543 43835544 + RNA INS - - T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:43835543_43835544insT ENST00000595748.1 - 0 38_39 GCGGGGAGGGGCTGAGGGGGGC 0.619 8 32 --- --- --- ---