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 HOMEZ 57594 broad.mit.edu 37 14 23746240 23746240 + Missense_Mutation SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr14:23746240C>G ENST00000357460.5 - 2 361 c.197G>C c.(196-198)aGc>aCc p.S66T HOMEZ_ENST00000431326.2_Missense_Mutation_p.S68T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S68T NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 66 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GTGTTCATTGCTGTCTAGCTC 0.537000 18 60 0 0 1 0 0 IGHV3-13 0 broad.mit.edu 37 14 106586202 106586202 + RNA SNP T T C TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr14:106586202T>C ENST00000390602.2 - 0 362 TACAAGGAGTTCTTGGCATTT 0.507000 25 91 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36128374 36128374 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr14:36128374G>A ENST00000258840.6 - 28 4370 c.3980C>T c.(3979-3981)tCg>tTg p.S1327L RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1293L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1280L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1280L Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1280 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATCTCTTGCCGAGCTTAATAC 0.353000 12 3 0 0 1 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36488358 36488358 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr20:36488358C>T ENST00000405275.2 + 15 1612 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R297W|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R484W|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R232W Q8WYA6 CTBL1_HUMAN catenin, beta like 1 484 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GTTCTACCTCCGGCGCCTGGA 0.537000 30 16 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344089 248344089 + Missense_Mutation SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:248344089C>G ENST00000359682.2 + 1 802 c.802C>G c.(802-804)Cca>Gca p.P268A NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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) TGATCACTCCCCAACGCAGGA 0.502000 101 138 0 0 1 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9948 9948 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chrM:9948G>A ENST00000362079.2 + 1 742 c.742G>A c.(742-744)Gtt>Att p.248_248insI mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 TTGTAGATGTGGTTTGACTAT 0.383000 12 49 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850736 3850736 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr6:3850736G>A ENST00000380274.1 + 1 1117 c.691G>A c.(691-693)Ggc>Agc p.G231S FAM50B_ENST00000380272.3_Missense_Mutation_p.G231S Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 231 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) GCGCTCCGCCGGCGTGGAGCA 0.657000 85 77 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148916171 148916171 + Missense_Mutation SNP G G T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:148916171G>T ENST00000264613.6 - 9 1958 c.1696C>A c.(1696-1698)Cat>Aat p.H566N CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 566 F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CCATTTGCATGTAAACTTCCT 0.353000 6 48 2.0095e-06 2.12599e-06 1 1 0 TMPRSS11F 389208 broad.mit.edu 37 4 68956262 68956262 + Missense_Mutation SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr4:68956262C>G ENST00000356291.2 - 3 320 c.261G>C c.(259-261)agG>agC p.R87S NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 87 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TCTGATGACTCCTTTCTATAA 0.294000 4 18 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183866921 183866921 + Missense_Mutation SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr2:183866921C>G ENST00000360982.2 - 6 1222 c.464G>C c.(463-465)cGa>cCa p.R155P NCKAP1_ENST00000361354.3_Missense_Mutation_p.R149P NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 149 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding p.R155Q(1) breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTCTTCAATTCGAGACAGCAG 0.313000 5 35 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 5 18 0 0 1 0 0 TOR3A 64222 broad.mit.edu 37 1 179064258 179064258 + Missense_Mutation SNP G G T rs78309022 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:179064258G>T ENST00000367627.3 + 6 1851 c.1099G>T c.(1099-1101)Gcc>Tcc p.A367S TOR3A_ENST00000352445.6_Intron NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 367 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 GGATGAAATAGCCCAGATGAT 0.512000 5 231 1.23904e-05 1.29214e-05 1 1 0 RP11-262H14.1 0 broad.mit.edu 37 9 66458014 66458014 + RNA SNP T T C rs75891239 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr9:66458014T>C ENST00000424345.1 + 0 67 GGTGCTGCAGTGGCGGATCTT 0.721000 5 12 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475639 75475639 + RNA SNP T T C TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:75475639T>C ENST00000459803.1 - 0 890 NR_024241.1 p.H284R(1) CTCTGGGTTGTGGACGGTAAA 0.662000 3 10 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83724416 83724416 + Silent SNP G G T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chrX:83724416G>T ENST00000297977.5 - 3 426 c.315C>A c.(313-315)gtC>gtA p.V105V HDX_ENST00000506585.2_Silent_p.V47V|HDX_ENST00000373177.2_Silent_p.V105V NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 105 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CAGTTACAATGACATCATTAT 0.413000 22 9 2.37509e-13 2.66741e-13 1 1 0 STXBP5L 9515 broad.mit.edu 37 3 121100275 121100275 + Missense_Mutation SNP G G T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:121100275G>T ENST00000273666.6 + 23 2826 c.2555G>T c.(2554-2556)tGt>tTt p.C852F STXBP5L_ENST00000492541.1_Missense_Mutation_p.C852F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.C826F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.C828F NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 852 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATCTCTCCTTGTCTGTTCGTT 0.408000 55 83 2.30037e-20 2.7529e-20 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73732658 73732658 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr17:73732658C>T ENST00000200181.3 + 16 2060 c.1873C>T c.(1873-1875)Ctc>Ttc p.L625F ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.L625F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L625F|ITGB4_ENST00000579662.1_Missense_Mutation_p.L625F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L625F NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 625 IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCACCCGGGCCTCTGCGAGGA 0.657000 12 42 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151271532 151271532 + Missense_Mutation SNP C C A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:151271532C>A ENST00000368875.2 - 10 2383 c.1803G>T c.(1801-1803)gaG>gaT p.E601D PI4KB_ENST00000368872.1_Missense_Mutation_p.E574D|PI4KB_ENST00000368873.1_Missense_Mutation_p.E589D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E574D|PI4KB_ENST00000529142.1_Missense_Mutation_p.E257D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E601D NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 589 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGGCACTCGCTCCTGTTCCC 0.473000 31 87 1.88708e-17 2.22189e-17 1 1 0 MUC4 4585 broad.mit.edu 37 3 195511839 195511839 + Silent SNP A A T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:195511839A>T ENST00000463781.3 - 2 7071 c.6612T>A c.(6610-6612)ggT>ggA p.G2204G MUC4_ENST00000475231.1_Silent_p.G2204G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 993 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGTGGCCTGACCTGTGGATG 0.597000 3 18 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164741472 164741472 + Missense_Mutation SNP T T C TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:164741472T>C ENST00000264382.3 - 26 3047 c.2985A>G c.(2983-2985)atA>atG p.I995M NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 995 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGTCAGCTGTTATACCCATGG 0.403000 HNSCC(35;0.089) 7 61 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 12 0 0 1 0 0 AC104534.3 0 broad.mit.edu 37 19 39330769 39330769 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr19:39330769G>A ENST00000594769.1 - 1 49 c.50C>T c.(49-51)tCa>tTa p.S17L HNRNPL_ENST00000600873.1_Silent_p.F267F|HNRNPL_ENST00000221419.5_Silent_p.F400F p.F267F(1)|p.F400F(1) AGAAGACATTGAAGACTCGGT 0.577000 44 9 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97681791 97681791 + Missense_Mutation SNP C C A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr6:97681791C>A ENST00000275053.4 - 12 1513 c.1248G>T c.(1246-1248)tgG>tgT p.W416C MMS22L_ENST00000369251.2_Intron NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 416 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGTTTGGCTCCCAGAAATCAC 0.323000 28 20 5.61819e-17 6.50996e-17 1 1 0 AMPH 273 broad.mit.edu 37 7 38457436 38457436 + Missense_Mutation SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr7:38457436C>G ENST00000356264.2 - 17 1602 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q AMPH_ENST00000428293.2_Intron|AMPH_ENST00000471913.1_Intron|AMPH_ENST00000325590.5_Intron NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 463 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ACTGCCTCCTCCACTGGCTCC 0.602000 26 30 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002239 98002239 + Silent SNP A A C TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:98002239A>C ENST00000355273.2 + 1 508 c.508A>C c.(508-510)Aga>Cga p.R170R RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CCTTATATTCAGATTAACCTT 0.328000 25 60 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658188 72658188 + RNA SNP T T G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr7:72658188T>G ENST00000425256.1 - 0 1723 NR_002164.1 ttcggatgaattatacaacag 0.512000 73 99 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39735322 39735322 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr12:39735322C>A ENST00000395670.3 - 14 2325 c.1906G>T c.(1906-1908)Gaa>Taa p.E636* KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E636* Q7Z4S6 KI21A_HUMAN kinesin family member 21A 636 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TCATCTGATTCAGAATCTGAT 0.388000 17 19 3.41278e-10 3.7184e-10 1 1 0 NEB 4703 broad.mit.edu 37 2 152432754 152432754 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr2:152432754G>A ENST00000397345.3 - 106 17021 c.16819C>T c.(16819-16821)Cgg>Tgg p.R5607W NEB_ENST00000409198.1_Missense_Mutation_p.R3906W|NEB_ENST00000172853.10_Missense_Mutation_p.R3906W|NEB_ENST00000427231.2_Missense_Mutation_p.R5607W|NEB_ENST00000603639.1_Missense_Mutation_p.R5607W|NEB_ENST00000604864.1_Missense_Mutation_p.R5607W NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5618 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACAGGCGTCCGATAGACACTG 0.448000 51 25 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136667191 136667191 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:136667191C>T ENST00000469404.1 + 3 929 c.838C>T c.(838-840)Cgt>Tgt p.R280C NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.R344C NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 344 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 CATTGGGCAGCGTAAATTCAG 0.348000 19 32 0 0 1 0 0 RNASEH2B 79621 broad.mit.edu 37 13 51530513 51530513 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr13:51530513C>T ENST00000336617.3 + 11 1241 c.842C>T c.(841-843)gCa>gTa p.A281V RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 281 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) AAAATGACTGCAGCTCAGAAG 0.289000 4 1 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525481 248525481 + Missense_Mutation SNP T T C TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:248525481T>C ENST00000366475.1 + 1 599 c.599T>C c.(598-600)tTc>tCc p.F200S NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTTCCCCTTCCGTGGATCC 0.493000 65 183 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93797646 93797646 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr11:93797646G>A ENST00000315765.9 + 4 786 c.778G>A c.(778-780)Gct>Act p.A260T NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 260 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CAAGAAAGATGCTGTTTTCCA 0.378000 21 3 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46553965 46553965 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr13:46553965C>T ENST00000242848.4 - 11 2243 c.1895G>A c.(1894-1896)cGt>cAt p.R632H ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 632 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCTGTTGTCACGACGGTCTCG 0.373000 16 103 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41741044 41741044 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr21:41741044C>T ENST00000400454.1 - 4 1114 c.637G>A c.(637-639)Gcc>Acc p.A213T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 213 Ig-like C2-type 2. 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) AAAAGTCTGGCGCTGTTGCTC 0.428000 28 38 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4119118 4119118 + Missense_Mutation SNP C C A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr7:4119118C>A ENST00000404826.2 + 22 3365 c.3226C>A c.(3226-3228)Ctg>Atg p.L1076M SDK1_ENST00000389531.3_Missense_Mutation_p.L1076M NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1076 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCATCCAACCTGGTCATTTC 0.547000 90 20 1.11079e-38 1.35147e-38 1 1 0 KLF5 688 broad.mit.edu 37 13 73636638 73636638 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr13:73636638C>T ENST00000377687.4 + 2 1437 c.901C>T c.(901-903)Ccc>Tcc p.P301S KLF5_ENST00000539231.1_Missense_Mutation_p.P210S|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 301 P -> S (in a colorectal cancer sample; somatic mutation). transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.P301S(1) breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CACTTACTTTCCCCCGTCACC 0.512000 28 19 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620650 144620650 + Missense_Mutation SNP G G A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr8:144620650G>A ENST00000262577.5 - 2 918 c.887C>T c.(886-888)tCg>tTg p.S296L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 296 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CACAACCAGCGAGGCCTCCCG 0.627000 50 98 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186510374 186510374 + Missense_Mutation SNP A A G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:186510374A>G ENST00000392481.2 - 7 861 c.580T>C c.(580-582)Tgt>Cgt p.C194R RFC4_ENST00000296273.2_Missense_Mutation_p.C194R|RFC4_ENST00000433496.1_Missense_Mutation_p.C194R NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 194 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) AATTTTGAACATCTAGAGGTC 0.363000 20 240 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33328602 33328602 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr20:33328602C>T ENST00000374796.2 - 12 8028 c.5458G>A c.(5458-5460)Gtg>Atg p.V1820M NCOA6_ENST00000359003.2_Missense_Mutation_p.V1820M Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1820 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATTTTGTCCACTTTTCCTTTG 0.468000 62 46 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129867279 129867279 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr4:129867279C>T ENST00000281142.5 - 16 1825 c.1322G>A c.(1321-1323)aGt>aAt p.S441N SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 441 S -> C (in dbSNP:rs10028124). centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TCTGTAATCACTCTCATTTCC 0.348000 9 5 0 0 1 0 0 RP11-453E17.1 0 broad.mit.edu 37 4 68620201 68620201 + RNA SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr4:68620201C>G ENST00000500538.2 + 0 1838 RP11-453E17.1_ENST00000502758.1_RNA CCCTGAGATACTTAATGTGAA 0.368000 2 0 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 35 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67022537 67022537 + Missense_Mutation SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr17:67022537C>T ENST00000340001.4 - 16 2333 c.2122G>A c.(2122-2124)Ggc>Agc p.G708S ABCA9_ENST00000370732.2_Missense_Mutation_p.G708S|ABCA9_ENST00000453985.2_Missense_Mutation_p.G708S NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 708 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TAGCCTATGCCCCATTTCTTC 0.423000 299 22 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr17:7578271T>C ENST00000420246.2 - 6 710 c.578A>G c.(577-579)cAt>cGt p.H193R TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 52 4 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407647 50407647 + Missense_Mutation SNP G G A rs144505438 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr20:50407647G>A ENST00000217086.4 - 2 1486 c.1375C>T c.(1375-1377)Ctc>Ttc p.L459F SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 459 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGTACAGAGAGTGCATAGGGG 0.537000 33 77 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 3 11 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 5 26 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17556635 17556635 + Missense_Mutation SNP T T G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr6:17556635T>G ENST00000229922.2 + 13 1928 c.1396T>G c.(1396-1398)Tcc>Gcc p.S466A CAP2_ENST00000378990.2_Missense_Mutation_p.S440A|CAP2_ENST00000465994.1_Missense_Mutation_p.S402A|CAP2_ENST00000493172.1_Missense_Mutation_p.S206A|CAP2_ENST00000489374.1_Missense_Mutation_p.S354A NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 466 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) ATGGGATGGATCCAAGTTAAT 0.403000 32 39 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160643 104160643 + Missense_Mutation SNP C C A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:104160643C>A ENST00000414303.2 + 2 300 c.236C>A c.(235-237)cCa>cAa p.P79Q NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 79 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) AGATACCAACCAGTTAGCTAT 0.353000 23 230 2.21704e-12 2.45218e-12 1 1 0 MCF2L2 23101 broad.mit.edu 37 3 183041097 183041097 + Missense_Mutation SNP C C A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:183041097C>A ENST00000328913.3 - 6 826 c.529G>T c.(529-531)Gac>Tac p.D177Y MCF2L2_ENST00000414362.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D177Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D177Y NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 177 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGGCTTTTGTCGATGTAGCCG 0.423000 21 174 1.55795e-14 1.77703e-14 1 1 0 ZNF518B 85460 broad.mit.edu 37 4 10446750 10446750 + Missense_Mutation SNP T T G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr4:10446750T>G ENST00000326756.3 - 3 1641 c.1203A>C c.(1201-1203)gaA>gaC p.E401D NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ACTTTGTTTTTTCTGCAGAAA 0.378000 8 151 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163099498 163099498 + Missense_Mutation SNP C C G TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr2:163099498C>G ENST00000188790.4 - 2 218 c.11G>C c.(10-12)tGg>tCg p.W4S FAP_ENST00000443424.1_Missense_Mutation_p.W4S NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 4 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 GATTTTTACCCAAGTCTACAT 0.388000 4 11 0 0 1 0 0 SRGAP2B 0 broad.mit.edu 37 1 144007565 144007568 + RNA DEL TCTC TCTC - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:144007565_144007568delTCTC ENST00000467933.1 + 0 915 TGGTGCTGTGTCTCTCTCTCTGCT 0.382 4 5 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144009132 144009132 + RNA DEL G G - rs11364742 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:144009132delG ENST00000467933.1 + 0 915 tttttaatctgtttttttcag 0.338 7 1 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145101606 145101606 + RNA DEL T T - rs113062007 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:145101606delT ENST00000453618.1 + 0 402 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TTACAGTGCCTCTTGTAAAGT 0.358 4 2 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 5 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910493 2910494 + RNA INS - - T rs11675784 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr2:2910493_2910494insT ENST00000457478.1 - 0 594 tccaccccctctccccagcccg 0.713 2 4 --- --- --- --- AC007682.1 0 broad.mit.edu 37 2 51738452 51738452 + RNA DEL C C - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr2:51738452delC ENST00000440698.1 + 0 694 CCCAAAATTGCCCTCAGCAAG 0.488 2 4 --- --- --- --- ALCAM 214 broad.mit.edu 37 3 105260569 105260570 + Frame_Shift_Ins INS - - A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:105260569_105260570insA ENST00000306107.5 + 8 1451_1452 c.951_952insA c.(949-954)gaaaaafs p.EK317fs ALCAM_ENST00000472644.2_Frame_Shift_Ins_p.EK317fs|ALCAM_ENST00000486979.2_Frame_Shift_Ins_p.EK266fs|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 317 Ig-like C2-type 1. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 CCCTGATAGACAAAAAAAGCAT 0.426 30 40 --- --- --- --- MFI2-AS1 0 broad.mit.edu 37 3 196728483 196728483 + RNA DEL G G - rs57530241 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr3:196728483delG ENST00000424769.1 + 0 113 AGAAGGGCGCGGGGGGCCTCA 0.612 5 3 --- --- --- --- AC110771.1 0 broad.mit.edu 37 4 187112347 187112348 + In_Frame_Ins INS - - GTT rs139087144 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr4:187112347_187112348insGTT ENST00000596414.1 - 1 278_279 c.279_280insAAC c.(277-282)cattag>caAACttag p.93_93H>QT ACTTCCCTAACGTGTCCCCAAA 0.629 4 1 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7372596 7372598 + RNA DEL CCA CCA - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr5:7372596_7372598delCCA ENST00000513219.1 - 0 202 accactacctccaccaccaccac 0.586 2 4 --- --- --- --- ZBED3-AS1 0 broad.mit.edu 37 5 76452636 76452636 + RNA DEL A A - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr5:76452636delA ENST00000508401.1 + 0 200 TGGGGTGGGGAGGTAAGGGAT 0.592 2 4 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786032 123786033 + In_Frame_Ins INS - - AAA TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr6:123786032_123786033insAAA ENST00000546248.1 - 9 1022_1023 c.889_890insTTT c.(889-891)tta>TTTtta p.296_297insF RP11-532N4.2_ENST00000587106.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|TRDN_ENST00000398178.3_Intron NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) AGATCTTTAAGAAAAAAAAAAG 0.386 2 4 --- --- --- --- RP1-137D17.1 0 broad.mit.edu 37 6 169785503 169785504 + RNA DEL CT CT - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr6:169785503_169785504delCT ENST00000440168.1 - 0 185 catgcacacactcacacactca 0.480 3 6 --- --- --- --- ADCK2 90956 broad.mit.edu 37 7 140373825 140373825 + Frame_Shift_Del DEL T T - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr7:140373825delT ENST00000072869.4 + 1 873 c.695delT c.(694-696)ctfs p.L232fs ADCK2_ENST00000476491.1_Frame_Shift_Del_p.L232fs NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 232 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) GTCCAGAGACTTGGCAGGGCC 0.582 40 119 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 5 --- --- --- --- CCDC26 0 broad.mit.edu 37 8 130676052 130676053 + RNA INS - - AT rs74456846 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr8:130676052_130676053insAT ENST00000446592.3 - 0 312 tatatatacacatatatataca 0.351 3 3 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68405348 68405349 + RNA INS - - T rs149727388 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr9:68405348_68405349insT ENST00000417843.2 - 0 224 aaaattctcaataaatgaggta 0.312 4 5 --- --- --- --- TUBBP5 0 broad.mit.edu 37 9 141069809 141069809 + RNA DEL T T - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr9:141069809delT ENST00000503395.1 + 0 1023 CTCCCGTCTCTTGCAGTTCTG 0.662 2 4 --- --- --- --- PLEKHG6 55200 broad.mit.edu 37 12 6436668 6436670 + In_Frame_Del DEL CTC CTC - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr12:6436668_6436670delCTC ENST00000449001.2 + 14 2317_2319 c.1823_1825delCTC c.(1822-1827)gct>g p.AP608del PLEKHG6_ENST00000304581.8_In_Frame_Del_p.AP170del|PLEKHG6_ENST00000396988.3_In_Frame_Del_p.AP640del|PLEKHG6_ENST00000011684.7_In_Frame_Del_p.AP640del NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 640 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GACCCCCAAGCTCCTCAACGCCG 0.640 50 48 --- --- --- --- SOX5 6660 broad.mit.edu 37 12 23699267 23699268 + Frame_Shift_Ins INS - - T TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr12:23699267_23699268insT ENST00000546136.1 - 11 1542_1543 c.1540_1541insA c.(1540-1542)gagfs p.E514fs SOX5_ENST00000541536.1_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000545921.1_Frame_Shift_Ins_p.E517fs|SOX5_ENST00000451604.2_Frame_Shift_Ins_p.E527fs|SOX5_ENST00000381381.2_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000396007.2_Frame_Shift_Ins_p.E141fs|SOX5_ENST00000537393.1_Frame_Shift_Ins_p.E492fs|SOX5_ENST00000309359.1_Frame_Shift_Ins_p.E514fs P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 527 E -> Q (in Ref. 4; AAB49537). transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 ATCTCCACTCAGATTGAAATCC 0.337 33 43 --- --- --- --- PARPBP 55010 broad.mit.edu 37 12 102590065 102590066 + In_Frame_Ins INS - - ATA TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr12:102590065_102590066insATA ENST00000327680.2 + 12 1956_1957 c.1493_1494insATA c.(1492-1494)cta>cATAta p.498_498L>HI PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000541394.1_In_Frame_Ins_p.656_656L>HI|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000392911.2_In_Frame_Ins_p.498_498L>HI|PARPBP_ENST00000358383.5_In_Frame_Ins_p.579_579L>HI|PARPBP_ENST00000378128.3_3'UTR NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 579 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 TTTTTTAGACTATAAATTTGTG 0.312 30 35 --- --- --- --- COL4A1 1282 broad.mit.edu 37 13 110835578 110835578 + Frame_Shift_Del DEL G G - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr13:110835578delG ENST00000375820.4 - 27 2064 c.1943delC c.(1942-1944)ctfs p.P648fs NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 648 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TTCTGCTCCAGGGGGGCCTGG 0.527 2 4 --- --- --- --- RP11-146E13.4 0 broad.mit.edu 37 14 19850732 19850733 + RNA INS - - A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr14:19850732_19850733insA ENST00000548109.1 + 0 72 AAATTAGACATAAAAGTAAAAA 0.332 2 4 --- --- --- --- RP11-509A17.3 0 broad.mit.edu 37 15 20557657 20557657 + RNA DEL C C - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr15:20557657delC ENST00000557528.1 + 0 44 tctgctctcacccccgcctct 0.642 3 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 6 --- --- --- --- RP11-17M15.2 0 broad.mit.edu 37 16 32320426 32320427 + RNA DEL CG CG - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr16:32320426_32320427delCG ENST00000568567.1 - 0 244 NR_033866.1 agacgaacctcgctatgtttcc 0.540 4 8 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 11 96 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053806 90053806 + RNA DEL G G - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr16:90053806delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.642 3 6 --- --- --- --- RP11-893F2.9 0 broad.mit.edu 37 17 48360270 48360271 + RNA INS - - AAAC rs5820809 by1000genomes TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr17:48360270_48360271insAAAC ENST00000508851.1 - 0 366 tcaaaacaaataaacaaacaaa 0.490 5 2 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11039832 11039832 + RNA DEL G G - rs143260277 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr21:11039832delG ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGCGACAAAGTTACTATAGA 0.348 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11041957 11041963 + RNA DEL AGTTTTG AGTTTTG - rs60976621 TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr21:11041957_11041963delAGTTTTG ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATTTCATATAGTTTTGAGTTTTGAAA 0.309 2 4 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-N9-A4Q1-01A-11D-A28R-08 TCGA-N9-A4Q1-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2 2a7a47d8-6e46-43e3-8262-9f7444070369 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 134 --- --- --- ---