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 ANKRD20A5P 0 broad.mit.edu 37 18 14179589 14179589 + RNA SNP C C A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr18:14179589C>A ENST00000581935.1 + 0 494 lung(3) 3 CCTGGACAAGCAGCACAGGTA 0.697000 7 25 1.04858e-14 1.10049e-14 1 1 0 TIGD3 220359 broad.mit.edu 37 11 65124210 65124210 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr11:65124210C>T ENST00000309880.5 + 2 1138 c.931C>T c.(931-933)Cgg>Tgg p.R311W NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 311 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TTACCGACACCGGCTGTTGGG 0.667000 5 71 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134078 27134078 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:27134078G>A ENST00000343060.4 - 2 1050 c.989C>T c.(988-990)aCt>aTt p.T330I HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 330 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGTAGTCAGAGTGTCTGAGGT 0.597000 38 57 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4874838 4874838 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:4874838C>T ENST00000399583.3 - 4 1003 c.816G>A c.(814-816)cgG>cgA p.R272R RADIL_ENST00000536091.1_Silent_p.R272R|RADIL_ENST00000538469.1_Silent_p.R32R NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 272 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CCACCGTGTGCCGGTCCCGGT 0.652000 3 29 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44973903 44973903 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr14:44973903G>A ENST00000340446.4 - 1 2579 c.2288C>T c.(2287-2289)cCg>cTg p.P763L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 763 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TGCCACCTGCGGTGACTGAAA 0.433000 33 192 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011462 78011462 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:78011462C>T ENST00000435339.2 + 2 1501 c.1096C>T c.(1096-1098)Cta>Tta p.L366L LPAR4_ENST00000373301.2_Silent_p.L366L NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 366 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TGAATTAATGCTAGAATCCAC 0.363000 8 123 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) 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) ACTGGACGCAGGcagcagcag 0.657000 4 26 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433893 72433893 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:72433893G>A ENST00000373517.3 - 1 791 c.436C>T c.(436-438)Ccc>Tcc p.P146S NAP1L2_ENST00000536638.1_Missense_Mutation_p.P4S NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 146 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCCAGTAAGGGTTGGTACATT 0.383000 102 182 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23953455 23953455 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:23953455G>A ENST00000379211.3 + 7 1247 c.698G>A c.(697-699)cGt>cAt p.R233H NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 233 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 ATCTCAAACCGTCTACGAAAT 0.373000 7 199 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 39 0 0 1 0 0 NUDT11 0 broad.mit.edu 37 X 51239216 51239216 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:51239216G>A ENST00000375992.3 - 1 232 c.81C>T c.(79-81)agC>agT p.S27S NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 27 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) CCTCGCGTTCGCTCCGGAAGC 0.682000 HNSCC(48;0.14) 19 32 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93247529 93247529 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:93247529C>T ENST00000446394.1 + 12 1297 c.1197C>T c.(1195-1197)atC>atT p.I399I HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Silent_p.I45I|HECTD2_ENST00000298068.5_Silent_p.I395I|HECTD2_ENST00000536715.1_Intron Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 395 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity p.I395I(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TGATAAACATCGCAAGGGTAA 0.313000 25 151 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56382032 56382032 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr6:56382032C>T ENST00000370754.5 - 71 18227 c.18228G>A c.(18226-18228)atG>atA p.M6076I DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M5572I|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.M3810I|DST_ENST00000244364.6_Missense_Mutation_p.M3484I|DST_ENST00000370769.4_Missense_Mutation_p.M5898I|DST_ENST00000370788.2_Missense_Mutation_p.M3701I|DST_ENST00000361203.3_Missense_Mutation_p.M5787I Q03001 DYST_HUMAN dystonin 5896 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGCATGCGGTCATGATTTTAT 0.378000 80 178 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713841 183713841 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:183713841C>T ENST00000511685.1 + 26 6139 c.6016C>T c.(6016-6018)Cgc>Tgc p.R2006C TENM3_ENST00000406950.2_Missense_Mutation_p.R2006C teneurin transmembrane protein 3 GCAGATTTTCCGCTTTAGTGA 0.438000 37 378 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 164 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681328 100681328 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:100681328C>T ENST00000306151.4 + 3 6695 c.6631C>T c.(6631-6633)Cca>Tca p.P2211S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2211 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.498000 7 814 0 0 1 0 0 LRRC14B 389257 broad.mit.edu 37 5 195061 195061 + Missense_Mutation SNP C C G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr5:195061C>G ENST00000328278.3 + 2 1166 c.1138C>G c.(1138-1140)Ctg>Gtg p.L380V NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 380 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 CGTTGGCATGCTGATCCTGGG 0.667000 8 26 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940279 113940279 + Silent SNP C C T rs147089589 TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:113940279C>T ENST00000245796.6 + 2 441 c.246C>T c.(244-246)gaC>gaT p.D82D PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.D82D NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 82 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCATCAGGACGGGCTGGAGC 0.622000 4 55 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122125380 122125380 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:122125380G>A ENST00000263710.4 - 35 4059 c.3670C>T c.(3670-3672)Cct>Tct p.P1224S CLASP1_ENST00000397587.3_Missense_Mutation_p.P1164S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1163S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1180S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P941S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P931S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1157S NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1224 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TCAGTGGCAGGGGAGGCAGCG 0.582000 38 57 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031009 33031009 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:33031009C>T ENST00000340811.4 - 3 913 c.805G>A c.(805-807)Ggg>Agg p.G269R PKP2_ENST00000070846.6_Missense_Mutation_p.G269R NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 269 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTGACCTGCCCGACAGTGAGC 0.662000 10 59 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631839 90631839 + Missense_Mutation SNP T T C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr15:90631839T>C ENST00000330062.3 - 4 627 c.514A>G c.(514-516)Agg>Ggg p.R172G IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172W(12)|p.R172G(2) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) TGGGCGTGCCTGCCAATGGTG 0.627000 M GBM 45 78 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75505623 75505623 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr5:75505623G>A ENST00000502798.2 + 4 1266 c.824G>A c.(823-825)cGg>cAg p.R275Q SV2C_ENST00000322285.7_Missense_Mutation_p.R275Q NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 275 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CGGGAAAAGCGGGGCGAACAC 0.557000 4 102 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5204929 5204929 + Missense_Mutation SNP G G A rs150568767 TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:5204929G>A ENST00000334314.3 - 2 224 c.148C>T c.(148-150)Cgc>Tgc p.R50C aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TCAATATGGCGGAAGCCTACG 0.468000 68 147 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30313174 30313174 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr19:30313174G>A ENST00000262643.3 + 10 1147 c.868G>A c.(868-870)Gac>Aac p.D290N CCNE1_ENST00000357943.5_Missense_Mutation_p.D247N|CCNE1_ENST00000444983.2_Missense_Mutation_p.D275N NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 290 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CCTGGATGTTGACTGCCTTGA 0.463000 A serous ovarian 5 160 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292820 102292820 + RNA SNP G G C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr15:102292820G>C ENST00000561463.1 + 0 866 p.T136T(2) GCGTGGGAACGAGAAGACACT 0.592000 4 53 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408233 105408233 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr14:105408233C>T ENST00000333244.5 - 7 13674 c.13555G>A c.(13555-13557)Gac>Aac p.D4519N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4519 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACCTCCAGGTCGGCGGAAGGG 0.627000 6 323 0 0 1 0 0 CENPBD1 92806 broad.mit.edu 37 16 90038172 90038172 + Silent SNP T T C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr16:90038172T>C ENST00000314994.3 - 1 770 c.159A>G c.(157-159)acA>acG p.T53T RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron NM_145039.3 NP_659476.2 B2RD01 CENP1_HUMAN CENPB DNA-binding domains containing 1 53 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|lung(2) 3 TGGTCGCCACTGTAGAGATAG 0.463000 23 45 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8161785 8161785 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr19:8161785G>A ENST00000600128.1 - 43 5807 c.5393C>T c.(5392-5394)tCg>tTg p.S1798L FBN3_ENST00000601739.1_Missense_Mutation_p.S1798L|FBN3_ENST00000270509.2_Missense_Mutation_p.S1798L Q75N90 FBN3_HUMAN fibrillin 3 1798 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCCGCCTGGCGACAGTTTGTA 0.617000 54 112 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153135292 153135292 + Missense_Mutation SNP C C A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:153135292C>A ENST00000370060.1 - 10 1278 c.1089G>T c.(1087-1089)gaG>gaT p.E363D L1CAM_ENST00000370057.3_Missense_Mutation_p.E363D|L1CAM_ENST00000361981.3_Missense_Mutation_p.E358D|L1CAM_ENST00000361699.4_Missense_Mutation_p.E363D|L1CAM_ENST00000543994.1_Missense_Mutation_p.E365D|L1CAM_ENST00000538883.1_Missense_Mutation_p.E365D|L1CAM_ENST00000370055.1_Missense_Mutation_p.E358D NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 363 Ig-like C2-type 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCAGGTGACCTCTGGTTGGG 0.657000 6 48 0.00116845 0.00119092 1 1 0 NOS1 4842 broad.mit.edu 37 12 117691483 117691483 + Missense_Mutation SNP T T C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:117691483T>C ENST00000317775.6 - 17 3293 c.2608A>G c.(2608-2610)Aga>Gga p.R870G NOS1_ENST00000338101.4_Missense_Mutation_p.R904G|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 870 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AAGTTGTCTCTGAGGTCGGGC 0.557000 10 137 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47221500 47221500 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:47221500C>T ENST00000319190.5 + 7 1216 c.848C>T c.(847-849)gCg>gTg p.A283V TTC7A_ENST00000409245.1_Missense_Mutation_p.A249V|TTC7A_ENST00000394850.2_Missense_Mutation_p.A283V|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 283 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGCCAGATGGCGGCCAAGCAC 0.632000 14 294 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512274 248512274 + Missense_Mutation SNP C C G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:248512274C>G ENST00000317861.1 + 1 198 c.198C>G c.(196-198)atC>atG p.I66M NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ATCTGTCTATCTTGGATGCCT 0.478000 5 152 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748408 143748408 + Missense_Mutation SNP T T G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:143748408T>G ENST00000408906.2 + 1 948 c.914T>G c.(913-915)tTg>tGg p.L305W NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) AAAAGAGTGTTGTGGAAACAG 0.473000 8 136 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91465121 91465121 + Missense_Mutation SNP A A G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:91465121A>G ENST00000416354.1 + 2 142 c.70A>G c.(70-72)Agg>Ggg p.R24G KIF20B_ENST00000371728.3_Missense_Mutation_p.R24G|KIF20B_ENST00000260753.4_Missense_Mutation_p.R24G|KIF20B_ENST00000394289.2_Missense_Mutation_p.R24G Q96Q89 KI20B_HUMAN kinesin family member 20B 24 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CCCAATTGCAAGGCCTTCAGA 0.358000 58 114 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131321132 131321132 + Missense_Mutation SNP A A C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr5:131321132A>C ENST00000379264.2 - 9 992 c.884T>G c.(883-885)cTc>cGc p.L295R ACSL6_ENST00000544770.1_Missense_Mutation_p.L179R|ACSL6_ENST00000379272.2_Missense_Mutation_p.L285R|ACSL6_ENST00000296869.4_Missense_Mutation_p.L295R|ACSL6_ENST00000379240.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379255.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379249.3_Missense_Mutation_p.L270R|ACSL6_ENST00000357096.1_Missense_Mutation_p.L235R|ACSL6_ENST00000431707.1_Missense_Mutation_p.L250R|ACSL6_ENST00000379246.1_Missense_Mutation_p.L281R|ACSL6_ENST00000543479.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379244.1_Missense_Mutation_p.L270R NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 270 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACAATGGAGAGGTCATCAGG 0.627000 9 41 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33588803 33588803 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr5:33588803C>T ENST00000504830.1 - 18 3101 c.2766G>A c.(2764-2766)ccG>ccA p.P922P ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P837P NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 922 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P922P(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AGTCTGTGGGCGGGAGAGCCT 0.632000 HNSCC(64;0.19) 77 90 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196935 62196935 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr20:62196935G>A ENST00000467148.1 - 8 3309 c.3240C>T c.(3238-3240)gaC>gaT p.D1080D HELZ2_ENST00000427522.2_Silent_p.D511D NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TCTGGCTCTCGTCCAGAAGCT 0.672000 4 45 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94014527 94014527 + Silent SNP A A G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr5:94014527A>G ENST00000265140.5 + 15 2261 c.1842A>G c.(1840-1842)gaA>gaG p.E614E NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 614 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) TCAAACATGAACTAGCTTACT 0.313000 46 60 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61012753 61012753 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:61012753C>T ENST00000373867.3 - 13 1551 c.1086G>A c.(1084-1086)gaG>gaA p.E362E FAM13C_ENST00000373868.2_Silent_p.E446E|FAM13C_ENST00000277705.6_Silent_p.E466E|FAM13C_ENST00000435852.2_Silent_p.E446E|FAM13C_ENST00000468840.2_Silent_p.E363E|FAM13C_ENST00000419214.2_Silent_p.E348E|FAM13C_ENST00000442566.3_Silent_p.E467E NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 446 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGTCCTCTTCCTCCTGCTTAT 0.463000 6 87 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91428384 91428384 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr15:91428384C>T ENST00000328850.3 + 2 251 c.109C>T c.(109-111)Cgg>Tgg p.R37W FES_ENST00000450438.2_Missense_Mutation_p.R37W|FES_ENST00000414248.2_Missense_Mutation_p.R37W|FES_ENST00000394300.3_Missense_Mutation_p.R37W|FES_ENST00000394302.1_Missense_Mutation_p.R37W|FES_ENST00000444422.2_Missense_Mutation_p.R37W NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 37 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GATGGCCCAGCGGGTCAAGAG 0.637000 4 245 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10547674 10547674 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr17:10547674G>A ENST00000583535.1 - 14 1491 c.1404C>T c.(1402-1404)atC>atT p.I468I MYH3_ENST00000226209.7_Silent_p.I468I NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 468 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AAACCTCAAAGATTTCAAAGC 0.403000 36 111 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24952522 24952522 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:24952522G>A ENST00000405141.1 + 18 3750 c.3039G>A c.(3037-3039)agG>agA p.R1013R NCOA1_ENST00000538539.1_Silent_p.R1013R|NCOA1_ENST00000395856.3_Silent_p.R1013R|NCOA1_ENST00000407230.1_Silent_p.R862R|NCOA1_ENST00000406961.1_Silent_p.R1013R|NCOA1_ENST00000288599.5_Silent_p.R1013R|NCOA1_ENST00000348332.3_Silent_p.R1013R Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1013 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATGGTCAGGCAAAAACCTT 0.512000 T PAX3 alveolar rhadomyosarcoma 4 217 0 0 1 0 0 PDC 5132 broad.mit.edu 37 1 186413580 186413580 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:186413580C>T ENST00000391997.2 - 4 359 c.272G>A c.(271-273)cGt>cAt p.R91H PDC_ENST00000340129.5_Missense_Mutation_p.R91H|PDC_ENST00000456239.2_Missense_Mutation_p.R39H|PDC_ENST00000497198.1_Missense_Mutation_p.R39H NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 91 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) ACGGTATTTACGAAGGCAGTT 0.368000 53 106 0 0 1 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804129 21804129 + Missense_Mutation SNP C C A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:21804129C>A ENST00000449193.2 - 4 4875 c.2623G>T c.(2623-2625)Gat>Tat p.D875Y SKIDA1_ENST00000444772.3_Missense_Mutation_p.D796Y NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 GTTTGAGAATCCTTAGTGGTG 0.443000 21 37 3.62473e-10 3.73031e-10 1 1 0 ELF1 1997 broad.mit.edu 37 13 41556170 41556170 + Missense_Mutation SNP C C G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr13:41556170C>G ENST00000239882.3 - 2 335 c.21G>C c.(19-21)caG>caC p.Q7H ELF1_ENST00000442101.1_Missense_Mutation_p.Q7H|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 7 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CTAGGTCGTTCTGTTGGACAA 0.363000 54 97 0 0 1 0 0 ZNF326 284695 broad.mit.edu 37 1 90482967 90482967 + Missense_Mutation SNP T T G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:90482967T>G ENST00000340281.4 + 8 1161 c.1018T>G c.(1018-1020)Tta>Gta p.L340V ZNF326_ENST00000370447.2_Missense_Mutation_p.L251V|ZNF326_ENST00000455342.2_Missense_Mutation_p.L134V NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding p.L340V(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TCAGGAAACATTAGATCATAT 0.299000 3 47 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74277003 74277003 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr17:74277003G>A ENST00000262765.5 - 9 3976 c.3797C>T c.(3796-3798)gCc>gTc p.A1266V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1266 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTGCAGGATGGCACTCTGCAC 0.617000 4 87 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42797278 42797278 + Nonsense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr19:42797278C>T ENST00000572681.2 + 16 6429 c.6361C>T c.(6361-6363)Cga>Tga p.R2121* CIC_ENST00000160740.3_Nonsense_Mutation_p.R1212*|CIC_ENST00000575354.2_Nonsense_Mutation_p.R1214* Q96RK0 CIC_HUMAN capicua transcriptional repressor 1214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TGGCCCAGTCCGAGAGCCAAC 0.706000 """Mis, F, S""" oligodendroglioma 8 9 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54161406 54161406 + Missense_Mutation SNP A A C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:54161406A>C ENST00000375180.2 - 7 1530 c.1474T>G c.(1474-1476)Ttt>Gtt p.F492V FAM120C_ENST00000328235.4_Missense_Mutation_p.F492V NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 492 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CAATTGGCAAAGGGGCTGTTC 0.522000 24 62 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747839 68747839 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr11:68747839C>T ENST00000309106.3 - 1 616 c.617G>A c.(616-618)cGg>cAg p.R206Q NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 206 integral to membrane|plasma membrane G-protein coupled receptor activity p.R206Q(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGAGCTCCTCCGCACCCAGAC 0.627000 5 74 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4544495 4544495 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr19:4544495C>T ENST00000586582.1 - 17 2095 c.1785G>A c.(1783-1785)tcG>tcA p.S595S SEMA6B_ENST00000586965.1_Silent_p.S595S|SEMA6B_ENST00000301293.3_Silent_p.S595S NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 595 cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGTTCACCGACACCAGCC 0.736000 3 23 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346856 48346856 + Missense_Mutation SNP T T C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr11:48346856T>C ENST00000319856.4 + 1 385 c.364T>C c.(364-366)Tgc>Cgc p.C122R NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTATGAGTGCTGCATGGCTCA 0.458000 9 496 0 0 1 0 0 CCDC160 347475 broad.mit.edu 37 X 133379730 133379730 + Missense_Mutation SNP G G T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:133379730G>T ENST00000517294.1 + 3 1283 c.900G>T c.(898-900)gaG>gaT p.E300D CCDC160_ENST00000370809.4_Missense_Mutation_p.E300D A6NGH7 CC160_HUMAN coiled-coil domain containing 160 300 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 GAGCCTTGGAGTTGCTTAGAA 0.373000 3 32 1 1 1 1 0 ANO9 338440 broad.mit.edu 37 11 418476 418476 + Nonsense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr11:418476C>T ENST00000332826.6 - 23 2328 c.2244G>A c.(2242-2244)tgG>tgA p.W748* NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 748 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GCCTTCCATGCCACATCTTCT 0.622000 45 88 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82323125 82323125 + Missense_Mutation SNP G G T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr9:82323125G>T ENST00000376520.4 + 13 1953 c.1125G>T c.(1123-1125)ttG>ttT p.L375F TLE4_ENST00000376537.4_Missense_Mutation_p.L375F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.L274F|TLE4_ENST00000376552.2_Missense_Mutation_p.L343F|TLE4_ENST00000265284.6_Missense_Mutation_p.L318F O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 p.L375L(1)|p.L343L(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CTCCCGGATTGAGGCCTGTAC 0.418000 15 171 6.81908e-15 7.22822e-15 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 109 0.00909568 0.00918231 1 1 0 PTCHD1 139411 broad.mit.edu 37 X 23398283 23398283 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:23398283G>A ENST00000379361.4 + 2 1787 c.927G>A c.(925-927)ctG>ctA p.L309L NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 309 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CCATAAGCCTGGCCACTCTCA 0.517000 71 155 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138378891 138378891 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr9:138378891G>A ENST00000356818.2 + 4 3084 c.2535G>A c.(2533-2535)ttG>ttA p.L845L PPP1R26_ENST00000605660.1_Silent_p.L845L|PPP1R26_ENST00000401470.3_Silent_p.L845L|PPP1R26_ENST00000605286.1_Silent_p.L845L|PPP1R26_ENST00000604351.1_Silent_p.L845L|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 845 nucleolus protein binding GGAAGTTTTTGGCGGAAAAGG 0.612000 4 228 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63272232 63272232 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:63272232C>T ENST00000263991.5 + 24 4004 c.3522C>T c.(3520-3522)cgC>cgT p.R1174R EHBP1_ENST00000354487.3_Silent_p.R1139R|EHBP1_ENST00000405289.1_Silent_p.R1139R|AC009501.4_ENST00000437346.1_RNA|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Silent_p.R1103R|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000405015.3_Silent_p.R1103R NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 1174 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AGAAGCGACGCGAACAGCTTC 0.662000 6 11 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414298 20414298 + Silent SNP A A G rs143254940 byFrequency TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr9:20414298A>G ENST00000380338.4 - 5 832 c.546T>C c.(544-546)agT>agC p.S182S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 182 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.522000 T MLL ALL 5 155 0 0 1 0 0 CRYBA1 1411 broad.mit.edu 37 17 27581333 27581333 + Missense_Mutation SNP C C T rs147836280 TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr17:27581333C>T ENST00000225387.3 + 6 615 c.614C>T c.(613-615)tCg>tTg p.S205L NM_005208.4 NP_005199.2 P05813 CRBA1_HUMAN crystallin, beta A1 205 Beta/gamma crystallin 'Greek key' 4. visual perception soluble fraction structural constituent of eye lens breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) GCCCAGACTTCGCAGATCCAA 0.443000 16 236 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33111032 33111032 + Nonsense_Mutation SNP T T A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr13:33111032T>A ENST00000267068.3 - 2 297 c.133A>T c.(133-135)Aga>Tga p.R45* N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.R45* NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 45 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TCTTGGATTCTGTGAAAATCA 0.388000 55 100 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184022109 184022109 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr3:184022109C>T ENST00000310118.4 + 12 2027 c.1469C>T c.(1468-1470)gCt>gTt p.A490V PSMD2_ENST00000439383.1_Missense_Mutation_p.A360V|PSMD2_ENST00000435761.1_Missense_Mutation_p.A331V|EIF2B5_ENST00000444495.1_Intron NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 490 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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) TTGGCTTATGCTGGCTCAAAT 0.478000 4 173 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292832 102292832 + RNA SNP G G C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr15:102292832G>C ENST00000561463.1 + 0 878 GAAGACACTCGTGGAGGCGTC 0.597000 4 49 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85634366 85634366 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:85634366G>A ENST00000322366.6 - 50 8344 c.7937C>T c.(7936-7938)aCg>aTg p.T2646M WDFY3_ENST00000295888.4_Missense_Mutation_p.T2663M Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2663 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGAACTGTCCGTTAGAGATGG 0.423000 5 254 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582077 82582077 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:82582077C>T ENST00000423517.2 - 5 8529 c.8192G>A c.(8191-8193)cGt>cAt p.R2731H PCLO_ENST00000333891.8_Missense_Mutation_p.R2731H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2662 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGTACTGTACGCAAATCAAT 0.353000 9 64 0 0 1 0 0 NIT2 56954 broad.mit.edu 37 3 100065063 100065063 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr3:100065063C>T ENST00000394140.3 + 6 560 c.469C>T c.(469-471)Cgg>Tgg p.R157W NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 157 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 CTACGACATGCGGTTTGCAGA 0.493000 3 63 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143604041 143604041 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr8:143604041C>T ENST00000517894.1 + 22 4109 c.3215C>T c.(3214-3216)aCc>aTc p.T1072I BAI1_ENST00000323289.5_Missense_Mutation_p.T1072I O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1072 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGGGATTCACCAAGGCCAAA 0.627000 7 8 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122536950 122536950 + Splice_Site SNP G G T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:122536950G>T ENST00000264357.5 + 8 1477 c.e8+1 GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.?(3) breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CTCTCGAAAAGTAAGTAACCA 0.318000 85 136 1.10345e-40 1.19353e-40 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856007 53856007 + Missense_Mutation SNP T T G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr19:53856007T>G ENST00000458035.1 + 4 2196 c.2079T>G c.(2077-2079)tgT>tgG p.C693W ZNF845_ENST00000595091.1_Missense_Mutation_p.C693W NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 693 Missing (in Ref. 1; BAG58121). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 CTTACAAGTGTAATGAGTGTG 0.423000 54 75 0 0 1 0 0 SERGEF 26297 broad.mit.edu 37 11 17981080 17981080 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr11:17981080G>A ENST00000265965.5 - 9 1099 c.948C>T c.(946-948)ctC>ctT p.L316L SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 316 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TTGAACAGGGGAGAAATGAAT 0.488000 44 66 0 0 1 0 0 TRAF7 84231 broad.mit.edu 37 16 2225554 2225554 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr16:2225554C>T ENST00000326181.6 + 17 1689 c.1557C>T c.(1555-1557)ctC>ctT p.L519L NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 519 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 TCACAGGCCTCAACCACTGGG 0.637000 8 131 0 0 1 0 0 PARK7 0 broad.mit.edu 37 1 8037767 8037767 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:8037767C>T ENST00000493678.1 + 6 445 c.378C>T c.(376-378)caC>caT p.H126H PARK7_ENST00000338639.5_Silent_p.H126H|PARK7_ENST00000377491.1_Silent_p.H126H|PARK7_ENST00000377493.5_Silent_p.H106H|PARK7_ENST00000377488.1_Silent_p.H126H Q99497 PARK7_HUMAN parkinson protein 7 126 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) TTACAACACACCCTCTTGCTA 0.373000 4 73 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157545510 157545510 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:157545510G>A ENST00000271532.1 - 11 1575 c.1440C>T c.(1438-1440)tcC>tcT p.S480S FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 480 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GAAGTGTCCTGGAGGTATTAG 0.463000 74 123 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50045824 50045824 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:50045824G>A ENST00000335154.5 - 14 1728 c.1495C>T c.(1495-1497)Cca>Tca p.P499S FMNL3_ENST00000352151.5_Missense_Mutation_p.P448S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P499S|FMNL3_ENST00000293590.5_Missense_Mutation_p.P499S NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 499 Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TCGGAGGGTGGCATGCCCTCA 0.662000 3 32 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21549235 21549235 + Missense_Mutation SNP G G A rs45523141 byFrequency TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr13:21549235G>A ENST00000382592.4 - 8 3446 c.3041C>T c.(3040-3042)gCc>gTc p.A1014V LATS2_ENST00000542899.1_Missense_Mutation_p.A1014V NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 1014 AGC-kinase C-terminal. A -> G (in dbSNP:rs45523141). cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) ACCTTCGCTGGCATCGTTCCA 0.547000 5 235 0 0 1 0 0 C10orf76 79591 broad.mit.edu 37 10 103783291 103783291 + Missense_Mutation SNP C C G TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:103783291C>G ENST00000370033.4 - 8 731 c.612G>C c.(610-612)gaG>gaC p.E204D NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 204 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) CATACCCATGCTCCCTACGAC 0.438000 46 82 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75134270 75134270 + Nonsense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr14:75134270G>A ENST00000356357.4 - 16 2457 c.1942C>T c.(1942-1944)Caa>Taa p.Q648* AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 ACTGGAGTTTGAGCTCCACCT 0.443000 46 72 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129200 152129200 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:152129200G>A ENST00000316073.3 - 3 439 c.375C>T c.(373-375)caC>caT p.H125H NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 125 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTTCTTCCTCGTGCCTCTGTC 0.542000 41 407 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123481449 123481449 + Missense_Mutation SNP G G T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:123481449G>T ENST00000280562.5 - 11 1686 c.1481C>A c.(1480-1482)cCc>cAc p.P494H PITPNM2_ENST00000392428.1_Missense_Mutation_p.P215H|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P494H|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P494H Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 494 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) ATGGCTGTAGGGGCTGAGGCT 0.662000 24 33 7.92952e-12 8.24048e-12 1 1 0 ZAN 7455 broad.mit.edu 37 7 100350298 100350298 + RNA SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:100350298C>T ENST00000542585.1 + 0 2718 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAGAAAAACCCACCATCCCC 0.498000 5 244 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175355252 175355252 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:175355252G>A ENST00000367674.1 - 8 2401 c.1693C>T c.(1693-1695)Cgg>Tgg p.R565W TNR_ENST00000263525.2_Missense_Mutation_p.R565W NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 565 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAGCCAGGCCGCAGGGCCTGC 0.607000 4 139 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 4 47 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430644 78430644 + Nonsense_Mutation SNP C C A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:78430644C>A ENST00000370767.1 - 9 733 c.646G>T c.(646-648)Gga>Tga p.G216* FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G237*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G216* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 216 KH 2. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 ATTTTAACTCCAGCCCGTTCC 0.363000 """F, N""" oligodendroglioma 71 45 2.40655e-23 2.57671e-23 1 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54917307 54917307 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:54917307C>T ENST00000293373.6 + 19 2087 c.2008C>T c.(2008-2010)Cgc>Tgc p.R670C NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R620C NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 670 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCGGAAGAACCGCAGCATTGT 0.542000 9 121 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418641 55418641 + Missense_Mutation SNP A A C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr11:55418641A>C ENST00000312422.2 + 1 262 c.262A>C c.(262-264)Aaa>Caa p.K88Q NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) AGCAAAGGACAAAACCATCTC 0.418000 142 262 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31784731 31784731 + Missense_Mutation SNP G G C TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:31784731G>C ENST00000446923.2 + 3 626 c.235G>C c.(235-237)Ggg>Cgg p.G79R ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000320985.10_Missense_Mutation_p.G95R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.G28R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G96R NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 95 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AGAAATCCTGGGGCCTGAAGC 0.383000 5 180 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373108 126373108 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:126373108G>A ENST00000394329.3 + 9 10950 c.10937G>A c.(10936-10938)aGc>aAc p.S3646N FAT4_ENST00000335110.5_Missense_Mutation_p.S1944N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3646 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTGTTAGACAGCTTCCACTGC 0.478000 70 137 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113958749 113958749 + Silent SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:113958749G>A ENST00000245796.6 + 17 3123 c.2928G>A c.(2926-2928)gaG>gaA p.E976E PSD4_ENST00000441564.2_Silent_p.E947E NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 976 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCGCTACGAGACCTACGTGC 0.632000 8 279 0 0 1 0 0 TNFRSF8 0 broad.mit.edu 37 1 12144582 12144582 + Missense_Mutation SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:12144582G>A ENST00000263932.2 + 2 347 c.125G>A c.(124-126)aGg>aAg p.R42K TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 42 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AAGGCTGTCAGGAGGTGCTGT 0.582000 45 41 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93373 93373 + Missense_Mutation SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:93373C>T ENST00000447903.2 - 4 1058 c.743G>A c.(742-744)cGc>cAc p.R248H TUBB8_ENST00000309812.4_Missense_Mutation_p.R320H Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 320 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CATGGGCATGCGACCCCTGAA 0.522000 5 278 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139905168 139905168 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr9:139905168C>T ENST00000265662.5 - 40 6225 c.6078G>A c.(6076-6078)aaG>aaA p.K2026K ABCA2_ENST00000371605.3_Silent_p.K2025K|ABCA2_ENST00000341511.6_Silent_p.K2026K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2025 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTCCACAGGCTTGGTAGACA 0.637000 60 94 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32320036 32320036 + Missense_Mutation SNP A A T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:32320036A>T ENST00000302418.4 - 14 2003 c.1546T>A c.(1546-1548)Tat>Aat p.Y516N NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 516 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) AGCAATTCATATTCCTTAGTT 0.318000 T """RET, ALK""" NSCLC 18 107 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 169998192 169998192 + Splice_Site SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr3:169998192G>A ENST00000295797.4 + 9 1187 c.e9+1 NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGATGATGAGGTAAGCACTGC 0.348000 19 55 0 0 1 0 0 MFSD5 84975 broad.mit.edu 37 12 53647528 53647528 + Silent SNP C C T TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:53647528C>T ENST00000534842.1 + 2 1377 c.1230C>T c.(1228-1230)acC>acT p.T410T MFSD5_ENST00000329548.4_Silent_p.T303T NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 303 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 GTATCGCCACCTCCAAGAGGT 0.587000 38 81 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16891370 16891372 + In_Frame_Del DEL TCT TCT - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:16891370_16891372delTCT ENST00000430580.2 - 28 3993_3995 c.3106_3108delAGA c.(3106-3108)del p.R1036del NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1026 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) tcttcgttgatcttcttcccctt 0.414 31 1771 --- --- --- --- KIFAP3 22920 broad.mit.edu 37 1 170003518 170003520 + In_Frame_Del DEL TTC TTC - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr1:170003518_170003520delTTC ENST00000367765.1 - 7 2116_2118 c.615_617delGAA c.(613-618)aaa>aa p.KK205del KIFAP3_ENST00000538366.1_In_Frame_Del_p.KK167del|KIFAP3_ENST00000361580.2_In_Frame_Del_p.KK245del|KIFAP3_ENST00000367767.1_In_Frame_Del_p.KK201del NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 245 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GATATCAGCTTTCTTCTTCTTTG 0.330 16 124 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234465531 234465534 + Frame_Shift_Del DEL ACAA ACAA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr2:234465531_234465534delACAA ENST00000251722.6 - 5 630_633 c.513_516delTTGT c.(511-516)gtfs p.VC171fs USP40_ENST00000450966.1_Frame_Shift_Del_p.VC183fs|USP40_ENST00000427112.2_Frame_Shift_Del_p.VC171fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 171 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TACATTCTTTACAAACAATCTGGT 0.363 27 55 --- --- --- --- RFC4 5984 broad.mit.edu 37 3 186509619 186509620 + Frame_Shift_Del DEL TT TT - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr3:186509619_186509620delTT ENST00000392481.2 - 8 976_977 c.695_696delAA c.(694-696)afs p.K232fs RFC4_ENST00000433496.1_Frame_Shift_Del_p.K232fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.K232fs NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 232 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) CTTCTGACACTTTAACAAGATA 0.322 20 146 --- --- --- --- EVC2 132884 broad.mit.edu 37 4 5642373 5642375 + In_Frame_Del DEL CTC CTC - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:5642373_5642375delCTC ENST00000310917.2 - 10 1827_1829 c.1096_1098delGAG c.(1096-1098)del p.E366del EVC2_ENST00000344408.5_In_Frame_Del_p.E446del|EVC2_ENST00000344938.1_In_Frame_Del_p.E446del NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 446 integral to membrane p.E446G(1) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCCGATCGTACTCCTCTTGTATT 0.438 116 298 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26426292 26426293 + Frame_Shift_Del DEL GA GA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:26426292_26426293delGA ENST00000342320.4 + 7 847_848 c.671_672delGA c.(670-672)cfs p.R224fs RBPJ_ENST00000345843.3_Frame_Shift_Del_p.R223fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.R203fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.R225fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 238 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) TTCACAGTCCGAGATGGCTACA 0.376 7 107 --- --- --- --- WDR19 57728 broad.mit.edu 37 4 39276459 39276462 + Frame_Shift_Del DEL TGAG TGAG - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:39276459_39276462delTGAG ENST00000399820.3 + 33 3751_3754 c.3597_3600delTGAG c.(3595-3600)atfs p.IE1199fs WDR19_ENST00000288634.7_Frame_Shift_Del_p.IE1039fs NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1199 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CAACTGTGATTGAGTGTCACAGGG 0.490 16 240 --- --- --- --- AASDH 132949 broad.mit.edu 37 4 57204654 57204658 + Frame_Shift_Del DEL GAGAA GAGAA - rs112962387 TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:57204654_57204658delGAGAA ENST00000205214.6 - 15 3387_3391 c.3207_3211delTTCTC c.(3205-3213)tcctfs p.SSP1069fs AASDH_ENST00000434343.2_Frame_Shift_Del_p.SSP584fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.SSP969fs|AASDH_ENST00000451613.1_3'UTR NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1069 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AGGACCACAGGAGAAGAGAAGACTT 0.400 25 104 --- --- --- --- SMARCA5 8467 broad.mit.edu 37 4 144468620 144468622 + In_Frame_Del DEL AAG AAG - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr4:144468620_144468622delAAG ENST00000283131.3 + 21 3198_3200 c.2736_2738delAAG c.(2734-2739)caa>ca p.QR912del NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 912 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding p.Q912Q(1) EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) CGAGAATTCAAAGAAGAATAAGC 0.389 10 153 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66772494 66772495 + RNA INS - - T rs113583073 TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:66772494_66772495insT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TGCTTGATTCCTTTTTTTTTTT 0.426 2 4 --- --- --- --- ZNF212 7988 broad.mit.edu 37 7 148947380 148947382 + In_Frame_Del DEL AGA AGA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr7:148947380_148947382delAGA ENST00000335870.2 + 2 283_285 c.155_157delAGA c.(154-159)gag>g p.EK52del NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CAGGCTGTGGAGAAGAAGATGGA 0.567 7 136 --- --- --- --- MAP3K8 1326 broad.mit.edu 37 10 30739449 30739452 + Splice_Site DEL GTAA GTAA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:30739449_30739452delGTAA ENST00000263056.1 + 5 1462 c.e5+1 MAP3K8_ENST00000542547.1_Splice_Site|MAP3K8_ENST00000375321.1_Splice_Site NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) GATATTAAACGTAAGTATCTTTGG 0.387 27 86 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114905777 114905780 + Frame_Shift_Del DEL CAAC CAAC - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr10:114905777_114905780delCAAC ENST00000545257.1 + 8 1303_1306 c.796_799delCAAC c.(796-801)cafs p.QP266fs TCF7L2_ENST00000352065.5_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000369395.1_Frame_Shift_Del_p.QP291fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000349937.2_Frame_Shift_Del_p.QP262fs|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.QP290fs|TCF7L2_ENST00000534894.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000355995.4_Frame_Shift_Del_p.QP266fs Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 266 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TAGGCAAGGTCAACCAGTGTACCC 0.505 T VTI1A colorectal 21 243 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46123899 46123903 + Frame_Shift_Del DEL TACTT TACTT - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:46123899_46123903delTACTT ENST00000334344.6 + 2 337_341 c.165_169delTACTT c.(163-171)actafs p.TTL55fs ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 55 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCAGAGTCACTACTTTAGGCGGATT 0.537 """N, S, F""" hepatocellular carcinoma 30 83 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78515813 78515815 + In_Frame_Del DEL ATT ATT - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr12:78515813_78515815delATT ENST00000397909.2 + 16 4016_4018 c.3843_3845delATT c.(3841-3846)aca>ac p.TL1281del NAV3_ENST00000536525.2_In_Frame_Del_p.TL1281del|NAV3_ENST00000228327.6_In_Frame_Del_p.TL1281del|NAV3_ENST00000266692.7_Intron Q8IVL0 NAV3_HUMAN neuron navigator 3 1281 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTAGTACCACATTAGCGCGGCAA 0.562 HNSCC(70;0.22) 10 80 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72231199 72231199 + Frame_Shift_Del DEL T T - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr15:72231199delT ENST00000356056.5 - 16 2844 c.2372delA c.(2371-2373)acfs p.N791fs MYO9A_ENST00000566885.1_Frame_Shift_Del_p.N411fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.N772fs NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 791 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTACTGTTGGTTTTTTTCATT 0.303 55 67 --- --- --- --- MLX 6945 broad.mit.edu 37 17 40722112 40722113 + Frame_Shift_Del DEL CA CA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chr17:40722112_40722113delCA ENST00000246912.4 + 7 804_805 c.751_752delCA c.(751-753)gfs p.Q251fs MLX_ENST00000346833.4_Frame_Shift_Del_p.Q167fs|MLX_ENST00000435881.2_Frame_Shift_Del_p.Q197fs NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 251 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) TTCCCTGTTCCAGTCCTTCAAT 0.550 18 121 --- --- --- --- SLC9B1P1 0 broad.mit.edu 37 Y 13501672 13501674 + In_Frame_Del DEL AAT AAT - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04342d6-2f32-40ec-a731-3e7bd18ffffe bfcd7244-5a98-40a6-9328-e7fe970754e9 g.chrY:13501672_13501674delAAT ENST00000331172.6 - 4 534_536 c.535_537delATT c.(535-537)del p.I179del TCTTACCAACAATATTTGATTCA 0.241 3 6 --- --- --- ---