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 BNC1 646 broad.mit.edu 37 15 83933066 83933066 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:83933066T>C ENST00000345382.2 - 4 1022 c.937A>G c.(937-939)Aaa>Gaa p.K313E BNC1_ENST00000569704.1_Missense_Mutation_p.K306E|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 313 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TCTTCTTTTTTAGTAATAGCA 0.438000 12 47 0 0 1 0 0 FIZ1 84922 broad.mit.edu 37 19 56104596 56104596 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:56104596G>A ENST00000221665.3 - 3 800 c.711C>T c.(709-711)ttC>ttT p.F237F NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGGGCGCGTTGAAGTCGCGCT 0.781000 3 4 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923397 89923397 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:89923397G>A ENST00000405460.2 + 7 1138 c.1042G>A c.(1042-1044)Gat>Aat p.D348N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 348 Calx-beta 3. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAAATAGTTGATGACACCAT 0.378000 32 97 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:94030836C>A ENST00000265140.5 + 21 3415 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 5 57 0.00307968 0.00317592 1 1 0 RBFOX2 23543 broad.mit.edu 37 22 36141976 36141976 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:36141976G>A ENST00000405409.2 - 11 1411 c.1043C>T c.(1042-1044)gCg>gTg p.A348V RBFOX2_ENST00000416721.2_Silent_p.G360G|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A351V|RBFOX2_ENST00000449924.2_Silent_p.G364G|RBFOX2_ENST00000262829.7_Silent_p.G342G|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A351V|RBFOX2_ENST00000397303.2_Silent_p.G341G|RBFOX2_ENST00000438146.2_Silent_p.G435G NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 0 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 TTACCACAGCGCCAACTCCAT 0.443000 17 269 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16053704 16053704 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:16053704G>A ENST00000375799.3 + 9 1364 c.1137G>A c.(1135-1137)ccG>ccA p.P379P RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.P359P NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 379 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GAGAGGGGCCGAGCAGCACCA 0.687000 6 12 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920041 4920041 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:4920041C>T ENST00000433855.1 + 1 1700 c.834C>T c.(832-834)ctC>ctT p.L278L KCNA6_ENST00000280684.3_Silent_p.L278L NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 278 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CTTTTGAGCTCCTGGTGCGCT 0.557000 HNSCC(72;0.22) 25 71 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230125 140230125 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:140230125C>T ENST00000378122.3 + 1 2769 c.2045C>T c.(2044-2046)gCg>gTg p.A682V PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A682V|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTCGCGGGCGTCAGTGGGT 0.657000 19 27 0 0 1 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114138370 114138370 + Splice_Site SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:114138370T>C ENST00000478244.1 - 2 287 c.5A>G c.(4-6)cAt>cGt p.H2R DCUN1D2_ENST00000375399.2_Splice_Site_p.H2R|DCUN1D2_ENST00000332592.3_Intron NM_001014283.1 NP_001014305.1 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 2 breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) TTTAAGCTTATGCTTTGGGAT 0.493000 57 13 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210654275 210654275 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:210654275C>A ENST00000439458.1 + 6 824 c.744C>A c.(742-744)atC>atA p.I248I UNC80_ENST00000272845.6_Silent_p.I248I|UNC80_ENST00000478701.1_3'UTR NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 248 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GTTCTCCTATCAACAGTCAAA 0.353000 18 32 2.94398e-08 3.29327e-08 1 1 0 PSMC2 5701 broad.mit.edu 37 7 103008039 103008039 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008039G>A ENST00000435765.1 + 11 1435 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K PSMC2_ENST00000544811.1_Missense_Mutation_p.E205K|PSMC2_ENST00000292644.3_Missense_Mutation_p.E342K|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 342 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TAGAAAAATTGAATTTAGCTT 0.358000 13 44 0 0 1 0 0 FOLR4 390243 broad.mit.edu 37 11 94039818 94039818 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:94039818C>T ENST00000440961.2 + 2 322 c.278C>T c.(277-279)gCt>gTt p.A93V NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 93 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 TTCATCCAGGCTATCTGCTTC 0.567000 18 43 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69811101 69811101 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr4:69811101C>G ENST00000251566.4 - 2 817 c.787G>C c.(787-789)Gaa>Caa p.E263Q UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 263 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGAGGAAATTCAAAATCCCAA 0.373000 11 37 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21469484 21469484 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:21469484G>C ENST00000222584.3 + 3 919 c.701G>C c.(700-702)aGa>aCa p.R234T NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 234 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GTCCAAATTAGACCTGGTGTT 0.443000 16 116 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103008218 103008218 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008218G>A ENST00000435765.1 + 12 1517 c.1106G>A c.(1105-1107)aGa>aAa p.R369K PSMC2_ENST00000544811.1_Missense_Mutation_p.R232K|PSMC2_ENST00000292644.3_Missense_Mutation_p.R369K|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 369 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 AGAGATATCAGATTTGAACTG 0.363000 19 57 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5009489 5009489 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:5009489C>T ENST00000380390.1 + 2 264 c.48C>T c.(46-48)ttC>ttT p.F16F MMP26_ENST00000300762.1_Silent_p.F16F|MMP26_ENST00000477339.1_Intron Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 16 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTGGTGTTTCGCCGTTCCAG 0.502000 OREG0003716 type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 31 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31024350 31024350 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr20:31024350G>A ENST00000375687.4 + 13 4259 c.3835G>A c.(3835-3837)Gtg>Atg p.V1279M ASXL1_ENST00000306058.5_Missense_Mutation_p.V1274M NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1279 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 ATCTCCAAATGTGATCTCCTT 0.512000 """F, N, Mis""" """MDS, CMML""" 36 26 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56961028 56961028 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:56961028C>G ENST00000559237.1 - 13 2182 c.1499G>C c.(1498-1500)gGa>gCa p.G500A ZNF280D_ENST00000396245.1_Missense_Mutation_p.G217A|ZNF280D_ENST00000559000.1_Missense_Mutation_p.G500A|ZNF280D_ENST00000267807.7_Missense_Mutation_p.G513A NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CACTTTTGTTCCAGGAGGCAA 0.318000 7 26 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179263552 179263552 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:179263552C>T ENST00000389805.4 + 8 1460 c.1282C>T c.(1282-1284)Ctg>Ttg p.L428L SQSTM1_ENST00000376929.3_Silent_p.L344L|SQSTM1_ENST00000402874.3_Silent_p.L344L|SQSTM1_ENST00000360718.5_Silent_p.L344L|SQSTM1_ENST00000510187.1_Silent_p.L344L|C5orf45_ENST00000403396.2_3'UTR NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 428 Interaction with NTRK1 (By similarity).|UBA. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGAGCGGCTCTGGACACCAT 0.552000 24 60 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762085 130762085 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:130762085T>C ENST00000392429.1 + 2 2896 c.518T>C c.(517-519)cTa>cCa p.L173P TMEM200A_ENST00000296978.3_Missense_Mutation_p.L173P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L173P NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 173 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ATTCACACGCTAAGAATCAAG 0.423000 10 29 0 0 1 0 0 CTHRC1 115908 broad.mit.edu 37 8 104388121 104388121 + Nonsense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr8:104388121G>A ENST00000330295.5 + 2 448 c.306G>A c.(304-306)tgG>tgA p.W102* CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.W88*|CTHRC1_ENST00000415886.2_Nonsense_Mutation_p.W102* NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 102 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) AGGAGTCCTGGACACCCAACT 0.453000 10 64 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035202 110035202 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:110035202G>A ENST00000453089.2 + 5 2180 c.1299G>A c.(1297-1299)ctG>ctA p.L433L ZC3H12C_ENST00000278590.3_Silent_p.L464L|ZC3H12C_ENST00000528673.1_Silent_p.L465L Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 464 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AAGGAGGACTGGTGAAAAGCA 0.512000 3 23 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46875522 46875522 + Silent SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:46875522G>C ENST00000359759.4 + 1 99 c.78G>C c.(76-78)ctG>ctC p.L26L COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.L26L P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 26 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCAACCTGCTGAACCTGAACT 0.642000 20 92 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44137256 44137256 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:44137256G>C ENST00000372396.3 + 11 1578 c.1444G>C c.(1444-1446)Gca>Cca p.A482P NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 482 A -> E (in dbSNP:rs586339). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GGAAGAACAAGCAGCAGCTGC 0.448000 7 95 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118982346 118982346 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr9:118982346C>A ENST00000328252.3 + 5 2418 c.2049C>A c.(2047-2049)ggC>ggA p.G683G PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 683 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AAGTTCTGGGCCACACAACGG 0.562000 37 57 2.6416e-12 3.08576e-12 1 1 0 FAM214A 56204 broad.mit.edu 37 15 52903959 52903959 + Nonsense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:52903959G>A ENST00000261844.7 - 4 369 c.217C>T c.(217-219)Cga>Tga p.R73* FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R80* NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 73 GACCTAGTTCGTCTGGCTTGG 0.398000 13 43 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94043017 94043017 + Missense_Mutation SNP G G A rs147074348 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:94043017G>A ENST00000297268.6 + 27 2044 c.1573G>A c.(1573-1575)Gat>Aat p.D525N NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 525 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCAGGTCCTGATGGAAACAA 0.453000 HNSCC(75;0.22) 16 25 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7838454 7838454 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:7838454C>A ENST00000380262.3 + 4 1510 c.585C>A c.(583-585)acC>acA p.T195T CNTROB_ENST00000380255.3_Silent_p.T195T|CNTROB_ENST00000563694.1_Silent_p.T195T|CNTROB_ENST00000565740.1_Silent_p.T195T NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 195 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) CAGAGCATACCCGCCGCAAGG 0.562000 3 19 0.004672 0.00474388 1 1 0 RPS8 6202 broad.mit.edu 37 1 45242394 45242394 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:45242394G>A ENST00000396651.3 + 3 319 c.159G>A c.(157-159)aaG>aaA p.K53K RPS8_ENST00000485390.1_3'UTR|RPS8_ENST00000372209.3_Intron P62241 RS8_HUMAN ribosomal protein S8 53 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 10 Acute lymphoblastic leukemia(166;0.155) GAGGTAACAAGAAATACCGTG 0.562000 10 39 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37945897 37945897 + Silent SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:37945897G>T ENST00000373087.6 + 3 566 c.450G>T c.(448-450)ggG>ggT p.G150G NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 150 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGCCATGGGAACAAGGAGG 0.632000 6 41 2.7689e-08 3.12388e-08 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41452089 41452089 + Silent SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:41452089G>T ENST00000400454.1 - 25 4887 c.4410C>A c.(4408-4410)acC>acA p.T1470T NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1470 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTTTCCTAAGGTCTTTGCTT 0.428000 8 92 0.00307968 0.00317592 1 1 0 POLR3E 55718 broad.mit.edu 37 16 22320249 22320249 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr16:22320249G>A ENST00000299853.5 + 5 336 c.169G>A c.(169-171)Gag>Aag p.E57K POLR3E_ENST00000564209.1_Missense_Mutation_p.E57K|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Missense_Mutation_p.E21K|POLR3E_ENST00000359210.4_Missense_Mutation_p.E57K NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 57 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CCTCCAGGTAGAGCTTGAGAT 0.627000 13 33 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37946006 37946006 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:37946006C>T ENST00000373087.6 + 3 675 c.559C>T c.(559-561)Cct>Tct p.P187S NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 187 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAAGGAGCAGCCTCGGCCCGA 0.627000 3 29 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114280167 114280167 + Nonsense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr4:114280167G>T ENST00000357077.4 + 38 10446 c.10393G>T c.(10393-10395)Gag>Tag p.E3465* ANK2_ENST00000264366.6_Nonsense_Mutation_p.E3432*|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3432 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGAAAGTAAGGAGCATTTCTT 0.458000 14 37 9.31168e-06 1.00749e-05 1 1 0 SMTN 6525 broad.mit.edu 37 22 31489677 31489677 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:31489677C>T ENST00000404574.1 + 1 334 c.244C>T c.(244-246)Cgg>Tgg p.R82W SMTN_ENST00000347557.2_Intron|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000333137.7_Intron P53814 SMTN_HUMAN smoothelin 0 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCTGAGCCTACGGCTGGGGGT 0.701000 4 4 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103007988 103007988 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103007988G>A ENST00000435765.1 + 11 1384 c.973G>A c.(973-975)Gat>Aat p.D325N PSMC2_ENST00000544811.1_Missense_Mutation_p.D188N|PSMC2_ENST00000292644.3_Missense_Mutation_p.D325N|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 325 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TAACAGACCTGATACTTTGGA 0.403000 11 48 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37945923 37945923 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:37945923G>A ENST00000373087.6 + 3 592 c.476G>A c.(475-477)gGc>gAc p.G159D NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 159 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding p.G159D(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCTGCCGGGGCATCCTGCTG 0.637000 8 43 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48905226 48905226 + Silent SNP G G T rs141651917 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:48905226G>T ENST00000316623.5 - 3 683 c.228C>A c.(226-228)ggC>ggA p.G76G NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 76 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACTGATTTCCGCCAGGTAAGG 0.393000 14 54 0.00316338 0.00323695 1 1 0 FAT3 120114 broad.mit.edu 37 11 92088561 92088561 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:92088561G>A ENST00000298047.6 + 1 3300 c.3283G>A c.(3283-3285)Gac>Aac p.D1095N FAT3_ENST00000525166.1_Missense_Mutation_p.D945N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1095N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1095N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1095 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGTATAGACGACGAGAGTGG 0.453000 TCGA Ovarian(4;0.039) 5 24 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927132 43927132 + Silent SNP A A G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:43927132A>G ENST00000282406.4 + 8 1145 c.1035A>G c.(1033-1035)agA>agG p.R345R NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 345 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCATAAAGAGACCAGAACACA 0.428000 13 47 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115806366 115806366 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr9:115806366C>G ENST00000374227.3 - 4 559 c.532G>C c.(532-534)Gag>Cag p.E178Q ZFP37_ENST00000553380.1_Missense_Mutation_p.E193Q|ZFP37_ENST00000555206.1_Missense_Mutation_p.E179Q NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCACATGACTCAAATTTAAGA 0.333000 9 38 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49434618 49434618 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:49434618G>A ENST00000301067.7 - 31 6934 c.6935C>T c.(6934-6936)tCa>tTa p.S2312L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGGGTGCCTGAGGAGGGTGA 0.617000 8 22 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58962721 58962721 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:58962721G>C ENST00000227451.3 + 7 1519 c.1415G>C c.(1414-1416)gGg>gCg p.G472A DTX4_ENST00000532982.1_Missense_Mutation_p.G366A NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 472 Notch signaling pathway cytoplasm zinc ion binding p.G366V(1)|p.G472V(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) ACCATTTATGGGGTGAAGACA 0.532000 13 35 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137883 56137883 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr20:56137883G>A ENST00000319441.4 + 4 702 c.538G>A c.(538-540)Gtc>Atc p.V180I PCK1_ENST00000535860.1_Missense_Mutation_p.V48I|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 180 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GGGCACGCCCGTCCTGGAAGC 0.562000 5 37 0 0 1 0 0 GPR21 2844 broad.mit.edu 37 9 125797575 125797575 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr9:125797575G>A ENST00000373642.1 + 1 770 c.730G>A c.(730-732)Gcc>Acc p.A244T RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron NM_005294.1 NP_005285.1 Q99679 GPR21_HUMAN G protein-coupled receptor 21 244 integral to plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 15 GGAAGTGCAGGCCTGTCCTGA 0.488000 20 61 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923175 89923175 + Nonsense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:89923175G>T ENST00000405460.2 + 7 916 c.820G>T c.(820-822)Gag>Tag p.E274* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 274 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGGTTCCTGAGGAAGACCA 0.383000 13 67 1.3612e-06 1.50991e-06 1 1 0 RBM26 64062 broad.mit.edu 37 13 79928636 79928636 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:79928636G>C ENST00000438737.2 - 13 2364 c.1924C>G c.(1924-1926)Cca>Gca p.P642A RBM26_ENST00000267229.7_Missense_Mutation_p.P639A|RBM26_ENST00000438724.1_Missense_Mutation_p.P642A Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 642 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GAAGGTACTGGACCCAGCCGC 0.463000 36 9 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25314303 25314303 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:25314303G>C ENST00000524413.1 + 3 2498 c.2151G>C c.(2149-2151)aaG>aaC p.K717N THNSL1_ENST00000376356.4_Missense_Mutation_p.K717N Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 717 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AGCAAGAGAAGATGGAGTACC 0.388000 9 40 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55063741 55063741 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:55063741C>T ENST00000505374.1 + 7 459 c.367C>T c.(367-369)Cgg>Tgg p.R123W DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000514278.2_Intron|SLC38A9_ENST00000504880.1_Intron NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 123 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TAATCCAACACGGAACAGAGG 0.333000 11 31 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46765614 46765614 + Missense_Mutation SNP G G A rs62226999 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:46765614G>A ENST00000262738.3 - 26 7846 c.7847C>T c.(7846-7848)gCg>gTg p.A2616V NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2616 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GATGGGCCCCGCAAAGCTCCA 0.622000 6 27 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48149456 48149456 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:48149456C>T ENST00000320031.8 + 7 1396 c.1066C>T c.(1066-1068)Cac>Tac p.H356Y ITGA3_ENST00000544892.1_Missense_Mutation_p.H131Y|ITGA3_ENST00000007722.7_Missense_Mutation_p.H356Y NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 356 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CTTCCCTGCTCACCCCTCACT 0.562000 19 43 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869946 4869946 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:4869946G>A ENST00000322101.2 - 1 568 c.493C>T c.(493-495)Ctg>Ttg p.L165L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCAGGGGCAGATGGAGACCC 0.557000 12 44 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64864186 64864186 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:64864186C>T ENST00000328747.7 + 4 1358 c.1159C>T c.(1159-1161)Cat>Tat p.H387Y ZNF92_ENST00000431504.1_Missense_Mutation_p.H311Y|ZNF92_ENST00000357512.2_Missense_Mutation_p.H355Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.H318Y NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 387 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) CCTTACTAAACATAAAAGAAT 0.358000 19 22 0 0 1 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89326682 89326682 + RNA SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:89326682G>T ENST00000483158.1 - 0 377 CAGTTGCTACGCTGCTGACAG 0.478000 32 51 3.03874e-20 3.61364e-20 1 1 0 SCAPER 49855 broad.mit.edu 37 15 76994184 76994184 + Missense_Mutation SNP A A T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:76994184A>T ENST00000538941.2 - 20 2624 c.1685T>A c.(1684-1686)tTt>tAt p.F562Y SCAPER_ENST00000324767.7_Missense_Mutation_p.F808Y|SCAPER_ENST00000563290.1_Missense_Mutation_p.F808Y NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 807 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 AACATGGCTAAAAAGATATAC 0.358000 13 19 0 0 1 0 0 HOMER2 9455 broad.mit.edu 37 15 83532988 83532988 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:83532988C>A ENST00000304231.8 - 4 510 c.318G>T c.(316-318)gtG>gtT p.V106V HOMER2_ENST00000426485.1_Silent_p.V106V|HOMER2_ENST00000450735.2_Silent_p.V106V|HOMER2_ENST00000399166.2_Silent_p.V106V NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 106 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 CAGCTTCTTTCACCTCCTGGA 0.388000 6 23 2.0095e-06 2.21045e-06 1 1 0 PSAP 5660 broad.mit.edu 37 10 73587834 73587834 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:73587834G>A ENST00000394936.3 - 6 804 c.657C>T c.(655-657)gtC>gtT p.V219V PSAP_ENST00000394934.1_Silent_p.V219V P07602 SAP_HUMAN prosaposin 219 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 CCAAGGCCTGGACAAAGGTGG 0.552000 5 50 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861865 25861865 + Missense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:25861865G>T ENST00000397060.4 - 5 721 c.612C>A c.(610-612)agC>agA p.S204R SLC17A3_ENST00000361703.6_Missense_Mutation_p.S126R|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S126R NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 126 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 ATAAAGCAATGCTGCAGAGTC 0.418000 24 56 1.66031e-10 1.88931e-10 1 1 0 PCNT 5116 broad.mit.edu 37 21 47847643 47847643 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:47847643C>T ENST00000359568.5 + 34 7535 c.7428C>T c.(7426-7428)ctC>ctT p.L2476L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2476 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGCCCCGACTCAGTGGCTCAG 0.602000 14 71 0 0 1 0 0 MRAP 56246 broad.mit.edu 37 21 33671325 33671325 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:33671325G>A ENST00000399784.2 + 3 230 c.43G>A c.(43-45)Gaa>Aaa p.E15K MRAP_ENST00000497833.1_Intron|MRAP_ENST00000339944.4_Missense_Mutation_p.E15K|MRAP_ENST00000399786.3_Missense_Mutation_p.E15K|MRAP_ENST00000303645.5_Missense_Mutation_p.E15K NM_178817.3 NP_848932.1 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 15 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding endometrium(1)|large_intestine(2)|lung(3) 6 CTACAGCTATGAATACTACCT 0.597000 7 28 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74350837 74350837 + Missense_Mutation SNP G G C rs144093273 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:74350837G>C ENST00000263665.6 - 14 1933 c.1906C>G c.(1906-1908)Cgg>Ggg p.R636G NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 636 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AAAGGTGTCCGAGCCTGGATA 0.433000 11 32 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32235148 32235148 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:32235148C>T ENST00000357033.4 - 44 6529 c.6323G>A c.(6322-6324)cGt>cAt p.R2108H DMD_ENST00000378677.2_Missense_Mutation_p.R2104H NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2108 R -> C (in dbSNP:rs16990169). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATAATGAAAACGCCGCCATTT 0.348000 13 11 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196876458 196876458 + Missense_Mutation SNP A A G rs7417769 by1000genomes TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:196876458A>G ENST00000367416.2 + 5 763 c.626A>G c.(625-627)aAc>aGc p.N209S CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000608469.1_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TCTTCAGAAAACTGTGGGCCT 0.383000 3 14 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50189507 50189507 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:50189507G>A ENST00000284509.6 - 23 2820 c.2679C>T c.(2677-2679)ttC>ttT p.F893F ATP8B4_ENST00000559829.1_Silent_p.F893F NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 893 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGAAACCACAGAAGAAACCAA 0.328000 26 81 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44137463 44137463 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:44137463G>C ENST00000372396.3 + 11 1785 c.1651G>C c.(1651-1653)Gat>Cat p.D551H NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 551 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TGCCAAAGGGGATGGCAGGGT 0.562000 15 114 0 0 1 0 0 C7orf26 79034 broad.mit.edu 37 7 6634164 6634164 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:6634164C>T ENST00000344417.5 + 3 780 c.513C>T c.(511-513)ttC>ttT p.F171F C7orf26_ENST00000359073.5_Silent_p.F152F|C7orf26_ENST00000472693.1_3'UTR NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 171 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) AGCAGATATTCAGTGCCAGCC 0.502000 9 121 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62757854 62757854 + Nonsense_Mutation SNP T T A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:62757854T>A ENST00000281156.4 - 3 543 c.265A>T c.(265-267)Aag>Tag p.K89* NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 89 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TGTAGCCTCTTCAAGGAGTTT 0.353000 21 39 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50158634 50158634 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:50158634G>A ENST00000284509.6 - 26 3216 c.3075C>T c.(3073-3075)atC>atT p.I1025I ATP8B4_ENST00000559829.1_Silent_p.I1025I NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1025 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGCTCCCCCAGATGAAGACGT 0.388000 19 44 0 0 1 0 0 TRIP10 9322 broad.mit.edu 37 19 6750343 6750343 + Missense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:6750343G>T ENST00000600428.1 + 12 1590 c.944G>T c.(943-945)cGg>cTg p.R315L CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.R423L|TRIP10_ENST00000313285.8_Missense_Mutation_p.R423L|TRIP10_ENST00000313244.9_Missense_Mutation_p.R479L Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 479 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 CTTAGCAACCGGGGAGACAGC 0.667000 13 47 0.00185496 0.00194329 1 1 0 ZNF615 284370 broad.mit.edu 37 19 52498046 52498046 + Nonsense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:52498046G>A ENST00000602063.1 - 6 632 c.283C>T c.(283-285)Caa>Taa p.Q95* ZNF615_ENST00000594083.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.Q95*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.Q100* Q8N8J6 ZN615_HUMAN zinc finger protein 615 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGAATACTTTGATTTTGCAAG 0.348000 20 20 0 0 1 0 0 UBE2N 7334 broad.mit.edu 37 12 93803827 93803827 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:93803827C>T ENST00000318066.2 - 4 824 c.447G>A c.(445-447)atG>atA p.M149I UBE2N_ENST00000549833.1_Missense_Mutation_p.M86I|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000552442.1_Missense_Mutation_p.M102I NM_003348.3 NP_003339.1 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 149 DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity endometrium(3)|liver(2)|lung(5) 10 AAATATTATTCATGGCATATA 0.348000 Direct reversal of damage;Rad6 pathway 8 14 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103008346 103008346 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008346G>A ENST00000435765.1 + 13 1558 c.1147G>A c.(1147-1149)Gct>Act p.A383T PSMC2_ENST00000544811.1_Missense_Mutation_p.A246T|PSMC2_ENST00000292644.3_Missense_Mutation_p.A383T|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 383 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TTTGAAAGGTGCTGAGATTAG 0.413000 17 65 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54544246 54544246 + Missense_Mutation SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:54544246C>A ENST00000338372.2 - 9 855 c.680G>T c.(679-681)gGa>gTa p.G227V VSTM1_ENST00000376626.1_Missense_Mutation_p.G196V|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.G139V NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 227 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TTCATGAGATCCTGGGGGCTC 0.557000 15 14 1.5739e-10 1.80656e-10 1 1 0 PSMC2 5701 broad.mit.edu 37 7 103008392 103008392 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008392G>A ENST00000435765.1 + 13 1604 c.1193G>A c.(1192-1194)aGa>aAa p.R398K PSMC2_ENST00000544811.1_Missense_Mutation_p.R261K|PSMC2_ENST00000292644.3_Missense_Mutation_p.R398K|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 398 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TTTGCCATCAGAGCACGGCGA 0.423000 16 77 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2825476 2825476 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:2825476C>T ENST00000381154.1 - 10 1693 c.1618G>A c.(1618-1620)Gtg>Atg p.V540M NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 540 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTTGCTATCACGGCGTGGTAC 0.647000 4 10 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49710985 49710985 + Missense_Mutation SNP C C A rs149523462 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:49710985C>A ENST00000451037.2 - 8 1756 c.816G>T c.(814-816)caG>caT p.Q272H CA10_ENST00000285273.4_Missense_Mutation_p.Q272H|CA10_ENST00000340813.6_Missense_Mutation_p.Q278H|CA10_ENST00000570565.1_Missense_Mutation_p.Q197H|CA10_ENST00000442502.2_Missense_Mutation_p.Q272H NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 272 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ATGGCTGGTTCTGGCTGAGCA 0.498000 15 46 2.23348e-06 2.43653e-06 1 1 0 APLP1 333 broad.mit.edu 37 19 36369487 36369487 + Splice_Site SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:36369487G>A ENST00000221891.4 + 14 1773 c.1581G>A c.(1579-1581)ggG>ggA p.G527G APLP1_ENST00000586861.1_Splice_Site_p.G520G|APLP1_ENST00000537454.2_Splice_Site_p.G487G NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 526 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGGGGTAGGGTCCACAGAAC 0.488000 8 28 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153244232 153244232 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr4:153244232T>C ENST00000281708.4 - 12 3154 c.1925A>G c.(1924-1926)gAt>gGt p.D642G FBXW7_ENST00000296555.5_Missense_Mutation_p.D524G|FBXW7_ENST00000603841.1_Missense_Mutation_p.D642G|FBXW7_ENST00000603548.1_Missense_Mutation_p.D642G|FBXW7_ENST00000263981.5_Missense_Mutation_p.D562G|FBXW7_ENST00000393956.3_Missense_Mutation_p.D466G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 642 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTTCCATCATCTGAGCTGGT 0.428000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 16 59 0 0 1 0 0 NKPD1 284353 broad.mit.edu 37 19 45656867 45656867 + Missense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:45656867G>T ENST00000317951.4 - 4 827 c.828C>A c.(826-828)ttC>ttA p.F276L NKPD1_ENST00000429338.1_Missense_Mutation_p.F54L|NKPD1_ENST00000438936.2_Missense_Mutation_p.F54L|NKPD1_ENST00000589776.1_Missense_Mutation_p.F54L NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GGATGAAAAGGAACTGCACGT 0.662000 3 7 0.00024832 0.000264341 1 1 0 ACTN4 81 broad.mit.edu 37 19 39191751 39191751 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:39191751C>T ENST00000252699.2 + 3 463 c.387C>T c.(385-387)atC>atT p.I129I ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 129 Actin-binding.|CH 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGTCTCCATCGGGGCAGAAG 0.532000 16 30 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64415128 64415128 + Splice_Site SNP C C T rs79964532 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:64415128C>T ENST00000395251.1 + 4 462 c.128C>T c.(127-129)tCa>tTa p.S43L ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron NM_199452.3 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 43 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TCCACAAAGTCAACACATCTA 0.468000 7 16 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10417249 10417249 + Silent SNP C C T rs113465029 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:10417249C>T ENST00000397077.1 - 10 1721 c.1146G>A c.(1144-1146)ccG>ccA p.P382P ATP2B2_ENST00000383800.4_Silent_p.P382P|ATP2B2_ENST00000360273.2_Silent_p.P427P|ATP2B2_ENST00000343816.4_Silent_p.P413P|ATP2B2_ENST00000352432.4_Silent_p.P427P Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 427 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CAGGCAGCCACGGCTTCTTGT 0.577000 16 43 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24868942 24868942 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:24868942G>A ENST00000424834.2 + 12 3619 c.3146G>A c.(3145-3147)cGc>cAc p.R1049H SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000382095.4_Missense_Mutation_p.R424H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R927H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H Q96N96 SPT13_HUMAN spermatogenesis associated 13 424 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity p.R424H(1) breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) ATCAACGAGCGCAAGCGCAAG 0.498000 4 35 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917902 48917902 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:48917902G>A ENST00000311378.4 + 2 1781 c.1253G>A c.(1252-1254)gGc>gAc p.G418D WFIKKN2_ENST00000426127.1_Missense_Mutation_p.G325D|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 418 BPTI/Kunitz inhibitor 2. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GTCTATGGTGGCTGCGAGGGC 0.667000 18 35 0 0 1 0 0 B3GAT2 135152 broad.mit.edu 37 6 71665845 71665845 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:71665845C>T ENST00000230053.6 - 1 896 c.288G>A c.(286-288)gcG>gcA p.A96A NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 96 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GGGTCAGCTCCGCTTTCTGCA 0.697000 7 16 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223492 118223492 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:118223492G>A ENST00000402510.2 - 11 1700 c.1701C>T c.(1699-1701)ggC>ggT p.G567G NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 567 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CAGCTCTATCGCCCAGGCCAT 0.473000 28 47 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47725990 47725990 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:47725990C>G ENST00000360380.3 - 17 3411 c.3048G>C c.(3046-3048)aaG>aaC p.K1016N STIL_ENST00000371877.3_Missense_Mutation_p.K1017N|STIL_ENST00000396221.2_Missense_Mutation_p.K999N|STIL_ENST00000337817.5_Missense_Mutation_p.K1016N|STIL_ENST00000243182.6_Missense_Mutation_p.K1016N NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1016 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTGCATTTTTCTTCACTTTAG 0.308000 41 10 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17436131 17436131 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:17436131G>A ENST00000302539.4 - 19 2446 c.2321C>T c.(2320-2322)tCg>tTg p.S774L ABCC8_ENST00000389817.3_Missense_Mutation_p.S773L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 773 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGGTTTCTGCGAAGCATAGGC 0.547000 26 37 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54966775 54966775 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr16:54966775G>A ENST00000394636.4 + 2 952 c.615G>A c.(613-615)caG>caA p.Q205Q IRX5_ENST00000558597.1_Silent_p.Q139Q|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.Q205Q P78411 IRX5_HUMAN iroquois homeobox 5 205 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 ACGAGCCCCAGAAGCCCGAGG 0.592000 14 41 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103007921 103007921 + Silent SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103007921G>C ENST00000435765.1 + 11 1317 c.906G>C c.(904-906)ctG>ctC p.L302L PSMC2_ENST00000544811.1_Silent_p.L165L|PSMC2_ENST00000292644.3_Silent_p.L302L|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 302 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TGTTGGAACTGATCAATCAGC 0.453000 14 55 0 0 1 0 0 NKPD1 284353 broad.mit.edu 37 19 45656276 45656276 + Silent SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:45656276G>C ENST00000317951.4 - 4 1418 c.1419C>G c.(1417-1419)ctC>ctG p.L473L NKPD1_ENST00000429338.1_Silent_p.L251L|NKPD1_ENST00000438936.2_Silent_p.L251L|NKPD1_ENST00000589776.1_Silent_p.L251L NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) TGATGGCGTTGAGCACGCCCA 0.672000 3 7 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103008417 103008417 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008417G>A ENST00000435765.1 + 13 1629 c.1218G>A c.(1216-1218)gaG>gaA p.E406E PSMC2_ENST00000544811.1_Silent_p.E269E|PSMC2_ENST00000292644.3_Silent_p.E406E|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 406 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TTGCTACCGAGAAGGATTTCT 0.423000 17 66 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119886517 119886517 + Missense_Mutation SNP G G A rs143524747 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:119886517G>A ENST00000464295.1 - 10 2252 c.1807C>T c.(1807-1809)Cgg>Tgg p.R603W GPR156_ENST00000315843.3_Missense_Mutation_p.R603W|GPR156_ENST00000461057.1_Missense_Mutation_p.R599W Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 603 Poly-Arg. integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity p.R603W(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TGAGCTGCCCGCCTTCTCCTC 0.592000 16 43 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98136543 98136543 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:98136543C>T ENST00000357947.3 - 18 2579 c.2354G>A c.(2353-2355)gGg>gAg p.G785E NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 785 CUB 4. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCCAGGGTCCCCTCCACACT 0.572000 35 15 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588563 20588563 + RNA SNP A A G rs2291972 by1000genomes TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:20588563A>G ENST00000428453.1 - 0 4187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCGGTTGCAGAAGCCCAGTAG 0.463000 3 30 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69652453 69652453 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:69652453C>T ENST00000435070.2 + 6 888 c.778C>T c.(778-780)Cct>Tct p.P260S CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P297S NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 260 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) TCAGGTTCTGCCTCCTCCTCT 0.577000 27 842 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44137208 44137208 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:44137208G>C ENST00000372396.3 + 11 1530 c.1396G>C c.(1396-1398)Gag>Cag p.E466Q NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 466 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 CAAATTTGAAGAGCTTAAAAA 0.453000 5 76 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47646815 47646815 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:47646815C>T ENST00000413379.3 + 2 265 c.163C>T c.(163-165)Ctc>Ttc p.L55F SAE1_ENST00000270225.7_Missense_Mutation_p.L55F|SAE1_ENST00000598840.1_Missense_Mutation_p.L55F|SAE1_ENST00000392776.3_Missense_Mutation_p.L55F|SAE1_ENST00000540850.1_5'UTR NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 55 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TGCCAAGAATCTCATCTTGGC 0.522000 17 80 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3974013 3974013 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:3974013C>T ENST00000381638.2 - 26 4164 c.4040G>A c.(4039-4041)cGc>cAc p.R1347H NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1347 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ATCTGGAGTGCGATACACCAG 0.393000 18 42 0 0 1 0 0 SCNN1D 6339 broad.mit.edu 37 1 1222339 1222339 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:1222339G>C ENST00000338555.2 + 5 1755 c.611G>C c.(610-612)aGa>aCa p.R204T SCNN1D_ENST00000379116.5_Missense_Mutation_p.R368T|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R204T|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R270T sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) AGCCGGGTCAGAGTGGGGTTC 0.701000 19 18 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34389477 34389477 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr20:34389477C>T ENST00000374012.3 + 2 162 c.33C>T c.(31-33)atC>atT p.I11I PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Silent_p.I11I Q9BVI0 PHF20_HUMAN PHD finger protein 20 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GACGAGGAATCAGCTTTGAAG 0.398000 12 36 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29073986 29073986 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:29073986G>C ENST00000306108.5 - 5 1287 c.1264C>G c.(1264-1266)Caa>Gaa p.Q422E NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 422 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 ATTTTCTCTTGAGAATCTAGT 0.363000 26 6 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202795 140202795 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:140202795C>T ENST00000529859.1 + 1 1435 c.1435C>T c.(1435-1437)Cgg>Tgg p.R479W PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R479W|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R479W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCTGCACGGGACGCGGA 0.662000 28 37 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67068497 67068497 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:67068497G>A ENST00000447274.2 + 11 2024 c.849G>A c.(847-849)ccG>ccA p.P283P ANKRD13D_ENST00000515828.1_Silent_p.P20P|ANKRD13D_ENST00000514166.1_Silent_p.P283P|ANKRD13D_ENST00000511455.2_Silent_p.P370P|ANKRD13D_ENST00000308440.6_Silent_p.P283P Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 283 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AAGAGCACCCGCTCTCCCTGG 0.612000 15 46 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024673 203024673 + Missense_Mutation SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:203024673C>A ENST00000367240.2 + 15 2407 c.1880C>A c.(1879-1881)tCc>tAc p.S627Y PPFIA4_ENST00000295706.4_Missense_Mutation_p.S142Y|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S142Y|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S355Y|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S142Y|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S626Y O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 142 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AAGCGTGGTTCCATCCCCACC 0.652000 11 33 0.000673444 0.000711157 1 1 0 CLEC11A 6320 broad.mit.edu 37 19 51228559 51228559 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:51228559C>T ENST00000599973.1 + 4 859 c.856C>T c.(856-858)Ccc>Tcc p.P286S CLEC11A_ENST00000250340.4_Silent_p.R269R Q9Y240 CLC11_HUMAN C-type lectin domain family 11, member A 146 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 7 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCTCACCCCGCCCCGAGCTCG 0.726000 9 7 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139112 90139112 + RNA SNP T T A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:90139112T>A ENST00000492446.1 + 0 35 AGCATGGACATGAGGGTCCTC 0.542000 35 155 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105795422 105795422 + Nonsense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:105795422G>T ENST00000393127.2 + 12 2220 c.1774G>T c.(1774-1776)Gag>Tag p.E592* GRIA4_ENST00000530497.1_Nonsense_Mutation_p.E592*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E592*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E592* NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 592 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GCCTCCCAATGAGTTTGGCAT 0.468000 9 15 1.12685e-05 1.2093e-05 1 1 0 FBXO21 23014 broad.mit.edu 37 12 117628253 117628253 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:117628253C>T ENST00000427718.2 - 1 83 c.9G>A c.(7-9)gcG>gcA p.A3A FBXO21_ENST00000330622.5_Silent_p.A3A NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 3 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) cgactgctgccgccgccATCT 0.766000 2 2 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166889977 166889979 + In_Frame_Del DEL CTC CTC - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:166889977_166889979delCTC ENST00000271417.3 - 9 1904_1906 c.1849_1851delGAG c.(1849-1851)gagdel p.E617del ILDR2_ENST00000528703.1_In_Frame_Del_p.E558del|ILDR2_ENST00000526687.1_In_Frame_Del_p.E509del|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529071.1_In_Frame_Del_p.E598del|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_In_Frame_Del_p.E490del NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 617 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TCCTCTTCTTCTCCGAGTTGCTG 0.685 2 4 --- --- --- --- OR2M3 127062 broad.mit.edu 37 1 248366372 248366372 + Translation_Start_Site DEL G G - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:248366372delG ENST00000456743.1 + 0 41 NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACACATCATGGCAAGGGAGA 0.438 41 149 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 4 5 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 4 4 --- --- --- --- HIST1H2BO 8348 broad.mit.edu 37 6 27861467 27861477 + Frame_Shift_Del DEL GCGAGGCTTCC GCGAGGCTTCC - rs145888457 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:27861467_27861477delGCGAGGCTTCC ENST00000303806.4 + 1 265_275 c.227_237delGCGAGGCTTCC c.(226-237)ggcgaggcttccfs p.GEAS76fs NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 76 nucleosome assembly nucleosome|nucleus DNA binding p.E77K(2) CGCATCGCTGGCGAGGCTTCCCGCCTGGCGC 0.616 28 67 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160500714 160500721 + Frame_Shift_Del DEL ACCAAGGG ACCAAGGG - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:160500714_160500721delACCAAGGG ENST00000356956.1 + 38 5729_5736 c.5581_5588delACCAAGGG c.(5581-5589)accaaggggfs p.TKG1861fs NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1861 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCTCTCAGGCACCAAGGGGGCATCCTTT 0.562 8 21 --- --- --- --- ACTL6B 51412 broad.mit.edu 37 7 100252715 100252716 + Frame_Shift_Ins INS - - T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:100252715_100252716insT ENST00000160382.5 - 4 401_402 c.295_296insA c.(295-297)atcfs p.I99fs NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 99 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTGATCCAGGATGGCTCGGAAG 0.599 9 30 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aaafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 12 153 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409540 22409540 + RNA DEL T T - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr14:22409540delT ENST00000390441.2 + 0 102 tctctctctctTTTTTTTTTT 0.428 4 5 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3828084 3828085 + Frame_Shift_Ins INS - - C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr16:3828084_3828085insC ENST00000262367.5 - 10 2849_2850 c.2040_2041insG c.(2038-2043)gggaacfs p.N681fs CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.N643fs NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 681 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCTGGCTGGTTCCCCAAGATGC 0.460 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 39 108 --- --- --- --- EFCAB5 374786 broad.mit.edu 37 17 28296048 28296049 + Frame_Shift_Ins INS - - A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:28296048_28296049insA ENST00000394835.3 + 4 622_623 c.430_431insA c.(430-432)gaafs p.E144fs EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Frame_Shift_Ins_p.E88fs|EFCAB5_ENST00000378738.3_Frame_Shift_Ins_p.E144fs|EFCAB5_ENST00000394832.2_Frame_Shift_Ins_p.E144fs|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.E144fs NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 144 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GAAGGAACTAGAAAAAAAGGCT 0.366 6 8 --- --- --- --- SCARF2 91179 broad.mit.edu 37 22 20785803 20785803 + Frame_Shift_Del DEL C C - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:20785803delC ENST00000405555.3 - 4 426 c.356delG c.(355-357)ggcfs p.G119fs SCARF2_ENST00000266214.5_Frame_Shift_Del_p.G119fs NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 119 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCAGTCGGGGCCCCAGAACTG 0.716 2 4 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119679350 119679350 + Frame_Shift_Del DEL A A - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:119679350delA ENST00000371322.5 - 5 930 c.869delT c.(868-870)ttgfs p.L290fs CUL4B_ENST00000404115.3_Frame_Shift_Del_p.L308fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.L295fs NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 308 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATCCAGAAACAAAAAAATGCT 0.308 2 4 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 5 9 --- --- --- ---