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 USP7 7874 broad.mit.edu 37 16 8998351 8998351 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:8998351T>C ENST00000344836.4 - 15 1843 c.1645A>G c.(1645-1647)Agg>Ggg p.R549G USP7_ENST00000381886.4_Missense_Mutation_p.R533G|USP7_ENST00000535863.1_Missense_Mutation_p.R450G NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 549 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GCCTCGATCCTTTTCTCTTCT 0.557000 5 70 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924394 188924394 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:188924394G>C ENST00000326866.4 + 4 841 c.433G>C c.(433-435)Gag>Cag p.E145Q ZFP42_ENST00000509524.1_Missense_Mutation_p.E145Q NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 145 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TGAGTATTCTGAGTACATGAC 0.443000 17 181 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592712 156592712 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:156592712G>C ENST00000302938.4 - 1 563 c.468C>G c.(466-468)ccC>ccG p.P156P NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 156 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTCAGAAGAGGGACACAACT 0.468000 9 88 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44166378 44166378 + Missense_Mutation SNP T T G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:44166378T>G ENST00000417257.1 - 14 1594 c.1418A>C c.(1417-1419)gAg>gCg p.E473A FRMD5_ENST00000402883.1_Missense_Mutation_p.E473A|FRMD5_ENST00000484674.1_Missense_Mutation_p.E379A NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 473 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) CCCAAGGGCCTCCACCTCTGT 0.577000 18 67 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96375576 96375576 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr13:96375576C>T ENST00000602402.1 + 3 391 c.274C>T c.(274-276)Cct>Tct p.P92S DNAJC3_ENST00000376795.6_Missense_Mutation_p.P92S NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 92 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) AGCTGCACTTCCTGATTTAAC 0.348000 11 138 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649841 232649841 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:232649841C>T ENST00000366630.1 - 2 1603 c.1245G>A c.(1243-1245)gaG>gaA p.E415E SIPA1L2_ENST00000262861.4_Silent_p.E415E Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 415 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCCTCCAGTCTCATTTCTAA 0.522000 14 252 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784583 8784583 + Silent SNP G G A rs115241522 by1000genomes TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:8784583G>A ENST00000359865.3 + 6 1615 c.1473G>A c.(1471-1473)ccG>ccA p.P491P SOGA2_ENST00000517570.1_Silent_p.P491P|SOGA2_ENST00000306329.11_Silent_p.P851P|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.P491P NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 842 CGCCCTTACCGGGGCCTGGCC 0.662000 5 119 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39536445 39536445 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr14:39536445G>C ENST00000537403.1 - 6 1755 c.553C>G c.(553-555)Caa>Gaa p.Q185E SEC23A_ENST00000545328.2_Missense_Mutation_p.Q358E|SEC23A_ENST00000536508.1_Missense_Mutation_p.Q261E|SEC23A_ENST00000307712.6_Missense_Mutation_p.Q387E Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 387 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) AAGACTCTTTGAAAAGTTTGT 0.358000 62 108 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505859 195505859 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:195505859T>C ENST00000463781.3 - 2 13051 c.12592A>G c.(12592-12594)Act>Gct p.T4198A MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 961 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T4198A(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGAGGAAGTGTCGGTGACA 0.602000 4 7 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13055073 13055073 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr20:13055073G>A ENST00000399002.2 + 4 809 c.535G>A c.(535-537)Gag>Aag p.E179K SPTLC3_ENST00000378194.4_Missense_Mutation_p.E179K NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 179 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) CAAGTATGATGAGTCTATGAG 0.433000 10 74 0 0 1 0 0 RTBDN 83546 broad.mit.edu 37 19 12936651 12936651 + Missense_Mutation SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:12936651A>G ENST00000322912.5 - 7 972 c.655T>C c.(655-657)Tcc>Ccc p.S219P RTBDN_ENST00000592204.1_Missense_Mutation_p.S197P|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000458671.2_Missense_Mutation_p.S187P NM_031429.2 NP_113617.1 Q9BSG5 RTBDN_HUMAN retbindin 187 extracellular region kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 GGTACCGCGGAGATGGAGATG 0.692000 OREG0025275 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 35 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319147 70319147 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:70319147C>T ENST00000338508.4 - 33 5379 c.5380G>A c.(5380-5382)Gat>Aat p.D1794N SHANK2_ENST00000409161.1_Missense_Mutation_p.D1197N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D1198N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1414N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1414 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCCAGCCAATCGGCCACATCT 0.483000 7 494 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510886 48510886 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:48510886C>A ENST00000446524.1 + 1 618 c.542C>A c.(541-543)cCc>cAc p.P181H NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181L(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GACATGTATCCCTTATTGAAA 0.443000 12 291 1.05317e-09 1.17327e-09 1 1 0 ADSSL1 122622 broad.mit.edu 37 14 105208336 105208336 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr14:105208336C>G ENST00000332972.5 + 9 1233 c.1074C>G c.(1072-1074)atC>atG p.I358M ADSSL1_ENST00000330877.2_Missense_Mutation_p.I315M NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 315 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CCGAGCAGATCAACGTGAGTC 0.687000 4 131 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179496028 179496028 + Splice_Site SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:179496028C>A ENST00000589042.1 - 237 43972 c.e237-1 TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGTCTCCCTCTGCAAGTAAA 0.353000 6 38 0.00116845 0.00120644 1 1 0 USP8 9101 broad.mit.edu 37 15 50790834 50790834 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:50790834C>G ENST00000433963.1 + 20 3580 c.3080C>G c.(3079-3081)tCt>tGt p.S1027C USP8_ENST00000396444.3_Missense_Mutation_p.S1027C|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Missense_Mutation_p.S921C|USP8_ENST00000307179.4_Missense_Mutation_p.S1027C NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1027 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TTACAGACATCTGTGGACTTC 0.353000 13 152 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205098 23205098 + RNA SNP G G A rs146035894 by1000genomes TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:23205098G>A ENST00000400153.2 - 0 756 NR_003521.1 CTGGAAGAACGTGGTTGCCAC 0.373000 3 24 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133957545 133957545 + Nonsense_Mutation SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:133957545G>T ENST00000361069.4 + 24 4160 c.4027G>T c.(4027-4029)Gaa>Taa p.E1343* LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1343 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GGCTGATCTGGAAGGTACGTG 0.622000 6 17 8.12818e-05 8.63832e-05 1 1 0 ACTL9 284382 broad.mit.edu 37 19 8808866 8808866 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:8808866C>G ENST00000324436.3 - 1 306 c.186G>C c.(184-186)aaG>aaC p.K62N NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 62 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CAAAACCTACCTTACAGGTGC 0.652000 19 44 0 0 1 0 0 LDB1 8861 broad.mit.edu 37 10 103871212 103871212 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr10:103871212G>A ENST00000425280.1 - 2 449 c.107C>T c.(106-108)aCc>aTc p.T36I LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR NM_001113407.1 NP_001106878.1 Q86U70 LDB1_HUMAN LIM domain binding 1 36 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) ATCCAGCATGGTGCCGGGATG 0.577000 20 61 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177936837 177936837 + Missense_Mutation SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:177936837G>T ENST00000308284.6 - 2 369 c.280C>A c.(280-282)Cgc>Agc p.R94S RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R94S|SEC16B_ENST00000464631.1_Missense_Mutation_p.R94S NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 94 Required for endoplasmic reticulum localization.|Tyr-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 AACTGATTGCGATAACCACCT 0.483000 15 58 6.72482e-11 7.52469e-11 1 1 0 SLC8A1 6546 broad.mit.edu 37 2 40655965 40655965 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:40655965C>G ENST00000406785.1 - 2 1645 c.1456G>C c.(1456-1458)Gag>Cag p.E486Q SLC8A1_ENST00000542756.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E486Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E486Q P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 486 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCATCCTCCTCAAAGATATCA 0.408000 18 80 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43656252 43656252 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:43656252G>A ENST00000396976.2 - 4 1685 c.1551C>T c.(1549-1551)acC>acT p.T517T ZSCAN29_ENST00000562072.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 517 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CAGCCTCACTGGTCCCCTGGA 0.557000 23 91 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115610123 115610123 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr10:115610123C>G ENST00000361384.2 - 2 1658 c.741G>C c.(739-741)aaG>aaC p.K247N DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K247N NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 247 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GAGTAGAAATCTTTTCACTGG 0.378000 Other identified genes with known or suspected DNA repair function 22 95 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129641824 129641824 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:129641824C>A ENST00000319119.4 + 2 231 c.146C>A c.(145-147)gCc>gAc p.A49D ZBTB34_ENST00000373452.2_Missense_Mutation_p.A45D NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 45 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 CCATTCCGAGCCCACAAAGCA 0.502000 71 115 3.58576e-35 4.15883e-35 1 1 0 SNRPA 6626 broad.mit.edu 37 19 41257370 41257370 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:41257370G>C ENST00000243563.3 + 1 607 c.57G>C c.(55-57)gaG>gaC p.E19D SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 19 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACCTCAATGAGAAGATCAAGA 0.527000 8 196 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106973153 106973153 + Missense_Mutation SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:106973153A>G ENST00000369066.3 + 4 3567 c.3080A>G c.(3079-3081)tAt>tGt p.Y1027C NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1027 Beta/gamma crystallin 'Greek key' 1. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GTAGTGATATATAGTGAACCC 0.388000 82 231 0 0 1 0 0 PIK3R3 8503 broad.mit.edu 37 1 46512294 46512294 + Nonsense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:46512294C>T ENST00000262741.5 - 8 1634 c.945G>A c.(943-945)tgG>tgA p.W315* PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000420542.1_Nonsense_Mutation_p.W315*|PIK3R3_ENST00000423209.1_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000340332.6_Nonsense_Mutation_p.W220*|PIK3R3_ENST00000540385.1_Nonsense_Mutation_p.W361*|PIK3R3_ENST00000372006.1_Nonsense_Mutation_p.W315* NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 315 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) TGTGATTGAGCCATCTGCCAG 0.448000 4 107 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64595250 64595250 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr14:64595250G>C ENST00000357395.3 + 75 14297 c.3153G>C c.(3151-3153)caG>caC p.Q1051H ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q4666H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1300H|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1051H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4666H Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4666 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.Q4666H(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCAGTGGGCAGAGTGTTGCTG 0.358000 33 123 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27480820 27480820 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:27480820C>G ENST00000356183.4 - 32 4881 c.4866G>C c.(4864-4866)ttG>ttC p.L1622F GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1622F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1622 Asp/Glu-rich (acidic). transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CACCTTCGTCCAAGTCATCCT 0.592000 20 55 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100630177 100630177 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:100630177C>T ENST00000308731.7 - 2 259 c.96G>A c.(94-96)ttG>ttA p.L32L BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.L32L NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 32 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGTGCACGGTCAAGAGAAACA 0.433000 Agammaglobulinemia, X-linked 13 116 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42931220 42931220 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:42931220C>G ENST00000244289.4 - 1 358 c.82G>C c.(82-84)Ggg>Cgg p.G28R LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 28 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TTTTCTGGCCCAGGCTCTAGC 0.537000 28 88 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133957544 133957544 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:133957544G>T ENST00000361069.4 + 24 4159 c.4026G>T c.(4024-4026)ctG>ctT p.L1342L LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1342 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGGCTGATCTGGAAGGTACGT 0.617000 7 17 0.000157383 0.000165187 1 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64085012 64085012 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:64085012C>G ENST00000295902.6 - 8 2835 c.2250G>C c.(2248-2250)agG>agC p.R750S PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R806S|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 750 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CCGACACAGTCCTAGGGCACT 0.597000 12 31 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6058331 6058331 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:6058331G>C ENST00000261405.5 - 52 8546 c.8292C>G c.(8290-8292)atC>atG p.I2764M NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2764 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCACATCGTTGATGTCAATGG 0.567000 27 47 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114780794 114780794 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr13:114780794C>T ENST00000334062.7 - 14 1417 c.1296G>A c.(1294-1296)caG>caA p.Q432Q RASA3_ENST00000389544.4_Silent_p.Q400Q NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 432 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GGTCCACATACTGCCGTAGGT 0.667000 12 68 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518332 113518332 + Missense_Mutation SNP T T A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:113518332T>A ENST00000284601.3 - 4 2883 c.2815A>T c.(2815-2817)Act>Tct p.T939S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 939 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GCCATGGTAGTAACTGCATTC 0.383000 12 167 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74452001 74452001 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:74452001C>T ENST00000394019.2 - 28 3609 c.3212G>A c.(3211-3213)aGa>aAa p.R1071K RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R990K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R1087K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R990K|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R1087K NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1087 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CCCTTTTTTTCTCTTCCTCTT 0.517000 32 133 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43514833 43514833 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:43514833C>T ENST00000282041.5 - 11 2233 c.2199G>A c.(2197-2199)gaG>gaA p.E733E NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 733 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GCTGCAGGTTCTCGCTCTCCA 0.592000 15 36 0 0 1 0 0 NGFR 4804 broad.mit.edu 37 17 47583779 47583779 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:47583779C>T ENST00000172229.3 + 3 452 c.327C>T c.(325-327)tgC>tgT p.C109C NGFR_ENST00000504201.1_Silent_p.C15C|RP5-1029K10.2_ENST00000514506.1_RNA NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 109 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) TGTGCCGCTGCGCCTACGGCT 0.706000 9 27 0 0 1 0 0 THAP5 168451 broad.mit.edu 37 7 108204694 108204694 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:108204694C>T ENST00000415914.3 - 3 1282 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K THAP5_ENST00000313516.5_Missense_Mutation_p.E335K NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 377 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 ACGTTTTCTTCAGATAGCCAG 0.318000 47 132 0 0 1 0 0 CAPZA2 830 broad.mit.edu 37 7 116550339 116550339 + Nonsense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:116550339C>G ENST00000458284.2 + 6 532 c.479C>G c.(478-480)tCa>tGa p.S160* CAPZA2_ENST00000361183.2_Missense_Mutation_p.Q187E P47755 CAZA2_HUMAN capping protein (actin filament) muscle Z-line, alpha 2 166 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex actin binding endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326) TTCAACCACTCAAGTGGTTGG 0.328000 3 55 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179592147 179592147 + Missense_Mutation SNP C C A rs142589999 TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:179592147C>A ENST00000467460.1 - 7 1024 c.694G>T c.(694-696)Gct>Tct p.A232S PEX5L_ENST00000472994.1_Missense_Mutation_p.A173S|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189S NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 232 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AATTCTGAAGCCGACTCAGAG 0.393000 33 115 4.34311e-12 4.88119e-12 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52643393 52643393 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:52643393G>A ENST00000356770.4 - 15 2409 c.2407C>T c.(2407-2409)Cgt>Tgt p.R803C PBRM1_ENST00000410007.1_Missense_Mutation_p.R835C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R835C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R850C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R835C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R835C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R850C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R835C Q86U86 PB1_HUMAN polybromo 1 835 Bromo 6. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCAAGCCGACGGTAGCGATTA 0.368000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 4 84 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123917162 123917162 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:123917162G>A ENST00000373855.1 + 27 4596 c.4336G>A c.(4336-4338)Gag>Aag p.E1446K CNTRL_ENST00000373847.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E894K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1446K Q7Z7A1 CNTRL_HUMAN centriolin 1446 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding p.E1446K(1) haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GGCAGAGGCTGAGAGTGAACT 0.463000 7 133 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135374895 135374895 + Silent SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:135374895C>G ENST00000343036.2 + 4 588 c.540C>G c.(538-540)ctC>ctG p.L180L C9orf171_ENST00000393215.3_Silent_p.L144L|C9orf171_ENST00000393216.2_Silent_p.L144L NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 180 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 ACCGTCAGCTCAATGACATCC 0.602000 35 131 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149838518 149838518 + Translation_Start_Site SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:149838518G>T ENST00000340881.2 - 0 482 PPIL4_ENST00000253329.2_Missense_Mutation_p.L351M Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TTATCTTTCAGAACCAAATTA 0.343000 4 100 0.217242 0.217242 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22154848 22154848 + Silent SNP A A T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:22154848A>T ENST00000397126.4 - 4 3136 c.2988T>A c.(2986-2988)acT>acA p.T996T ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GTTTCTCTCCAGTATGAATTA 0.353000 5 68 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84806759 84806759 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:84806759G>A ENST00000389394.3 + 14 2322 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K DNAH6_ENST00000398278.2_Missense_Mutation_p.E729K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E729K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 729 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TACTACCACAGAATATGTTCA 0.348000 7 137 0 0 1 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202469364 202469364 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:202469364C>T ENST00000439140.1 - 2 332 c.288G>A c.(286-288)gaG>gaA p.E96E ALS2CR11_ENST00000450242.1_Silent_p.E96E|ALS2CR11_ENST00000286195.3_Silent_p.E96E|ALS2CR11_ENST00000439802.1_Silent_p.E96E NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 96 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 AATTTGGCGTCTCCTGTGTTA 0.333000 11 160 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31155036 31155036 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:31155036G>C ENST00000268281.4 - 7 901 c.843C>G c.(841-843)acC>acG p.T281T PRSS36_ENST00000418068.2_Silent_p.T281T|PRSS36_ENST00000569305.1_Silent_p.T281T NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 281 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 ATGCCTCATAGGTAGCCACAG 0.612000 19 51 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19749029 19749029 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:19749029G>A ENST00000203556.4 - 9 865 c.728C>T c.(727-729)tCg>tTg p.S243L GMIP_ENST00000445806.2_Missense_Mutation_p.S243L|GMIP_ENST00000587238.1_Missense_Mutation_p.S243L NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 243 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AGGTCCCGGCGAGGCCTGGGG 0.751000 3 16 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31722148 31722148 + Silent SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr13:31722148T>C ENST00000320027.5 - 10 1670 c.1326A>G c.(1324-1326)ctA>ctG p.L442L HSPH1_ENST00000429785.2_Silent_p.L261L|HSPH1_ENST00000445273.2_Silent_p.L444L|HSPH1_ENST00000380405.4_Silent_p.L442L|HSPH1_ENST00000380406.5_Silent_p.L401L NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 442 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) AGAAAGCTTCTAGCTCAAAAG 0.388000 63 207 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24557974 24557974 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:24557974T>C ENST00000336812.4 - 4 917 c.761A>G c.(760-762)tAt>tGt p.Y254C NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 254 Helicase ATP-binding. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) TATTACACCATAACGCTCCAG 0.403000 24 61 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44449605 44449605 + Missense_Mutation SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:44449605G>T ENST00000360029.3 - 1 1219 c.936C>A c.(934-936)agC>agA p.S312R NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 312 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CGGTGTAGCTGCTCCAGATCT 0.637000 HNSCC(17;0.042) 8 26 0.000157383 0.000165187 1 1 0 NIPBL 25836 broad.mit.edu 37 5 37052593 37052593 + Nonsense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:37052593C>G ENST00000282516.8 + 42 7687 c.7188C>G c.(7186-7188)taC>taG p.Y2396* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y2396* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2396 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CACACCTTTACTCCATGATCC 0.423000 45 220 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97821553 97821553 + Silent SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:97821553C>G ENST00000297293.5 + 11 2069 c.1776C>G c.(1774-1776)ctC>ctG p.L592L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 592 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCACGGCGCTCAGGAGCGTTG 0.527000 11 82 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109049641 109049641 + Missense_Mutation SNP T T G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:109049641T>G ENST00000335658.6 - 5 463 c.409A>C c.(409-411)Aaa>Caa p.K137Q DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 137 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TTGGCCTCTTTTGCTGTGCTA 0.363000 71 82 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30857319 30857319 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:30857319G>C ENST00000403066.1 - 12 1165 c.882C>G c.(880-882)ctC>ctG p.L294L SEC14L3_ENST00000415957.2_Silent_p.L294L|SEC14L3_ENST00000540910.1_Silent_p.L276L|SEC14L3_ENST00000402286.1_Silent_p.L276L|SEC14L3_ENST00000401751.1_Silent_p.L294L|SEC14L3_ENST00000539629.1_Silent_p.L294L|SEC14L3_ENST00000215812.4_Silent_p.L353L Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 353 GOLD. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CTGAGCAGGTGAGGTTCCCAT 0.597000 12 117 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224503 59224503 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:59224503G>C ENST00000300127.2 + 1 93 c.70G>C c.(70-72)Gag>Cag p.E24Q NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CCGAGAGCTGGAGTTTTTCTT 0.473000 5 186 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107113760 107113760 + Silent SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:107113760C>G ENST00000392842.1 + 12 1575 c.1161C>G c.(1159-1161)ctC>ctG p.L387L RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Silent_p.L396L|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.L293L NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 387 Necessary for dimerization. transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 TTGACCATCTCTTGGAGGAGC 0.488000 5 89 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 98 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22255710 22255710 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:22255710G>C ENST00000594947.1 + 2 247 c.103G>C c.(103-105)Gag>Cag p.E35Q ZNF257_ENST00000600162.1_Missense_Mutation_p.E35Q NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTGATGTTAGAGAACTACAG 0.388000 14 221 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139902402 139902402 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:139902402G>C ENST00000265662.5 - 49 7437 c.7290C>G c.(7288-7290)ttC>ttG p.F2430L ABCA2_ENST00000371605.3_Missense_Mutation_p.F2429L|ABCA2_ENST00000341511.6_Missense_Mutation_p.F2430L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2429 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) TGTCCGTGTTGAAGGACAGCT 0.662000 3 43 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768892 88768892 + RNA SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr10:88768892C>T ENST00000444431.1 + 0 3492 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GTATGAGGAGCGGGATGCCTG 0.552000 10 193 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75851794 75851794 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:75851794G>C ENST00000356136.3 + 15 1678 c.1437G>C c.(1435-1437)aaG>aaC p.K479N UVRAG_ENST00000539288.1_Missense_Mutation_p.K107N|UVRAG_ENST00000532130.1_Missense_Mutation_p.K107N|UVRAG_ENST00000531818.1_Missense_Mutation_p.K107N|UVRAG_ENST00000533454.1_Missense_Mutation_p.K107N|UVRAG_ENST00000538870.1_Missense_Mutation_p.K35N|UVRAG_ENST00000528420.1_Missense_Mutation_p.K378N NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 479 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 CTGTTCCTAAGAGACAAAGCT 0.473000 8 159 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176755 41176755 + Missense_Mutation SNP T T G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:41176755T>G ENST00000263413.3 - 8 1254 c.990A>C c.(988-990)aaA>aaC p.K330N C6_ENST00000337836.5_Missense_Mutation_p.K330N|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 330 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GGTGCAGATCTTTAGCTTTCG 0.353000 12 151 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78686709 78686709 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:78686709G>C ENST00000545128.1 + 7 1327 c.789G>C c.(787-789)caG>caC p.Q263H PCSK5_ENST00000376752.4_Missense_Mutation_p.Q263H|PCSK5_ENST00000376767.3_Missense_Mutation_p.Q263H NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 263 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCAACCCCCAGCACGTGCACA 0.542000 11 187 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170732436 170732436 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:170732436C>T ENST00000314251.3 - 3 272 c.193G>A c.(193-195)Gat>Aat p.D65N SLC2A2_ENST00000382808.4_Intron NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 65 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GGCAGTTCATCTGTACTGTTG 0.428000 7 207 0 0 1 0 0 LYZ 4069 broad.mit.edu 37 12 69746053 69746053 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:69746053C>T ENST00000261267.2 + 3 423 c.355C>T c.(355-357)Cgt>Tgt p.R119C LYZ_ENST00000549690.1_Intron NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 119 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding p.R119C(1) endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) GAGGGTTGTCCGTGATCCACA 0.358000 25 91 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487820 248487820 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:248487820G>T ENST00000317965.2 - 1 79 c.51C>A c.(49-51)atC>atA p.I17I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TATGATTGAAGATTCCCAGGA 0.468000 9 230 4.68919e-08 5.1785e-08 1 1 0 TTN 7273 broad.mit.edu 37 2 179584857 179584857 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:179584857C>T ENST00000589042.1 - 81 23736 c.23512G>A c.(23512-23514)Gag>Aag p.E7838K TTN_ENST00000591111.1_Missense_Mutation_p.E7521K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6594K|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7521 Ig-like 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCACTCTCTCTGATGACT 0.438000 20 106 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79990684 79990684 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:79990684C>T ENST00000373275.4 - 10 1143 c.927G>A c.(925-927)gtG>gtA p.V309V NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 309 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CAGTAAATTTCACCGGGCGAT 0.373000 13 42 0 0 1 0 0 SULT1B1 27284 broad.mit.edu 37 4 70596325 70596325 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:70596325G>T ENST00000310613.2 - 7 969 c.672C>A c.(670-672)atC>atA p.I224I NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 224 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TGTGATGGATGATCCTATCCA 0.373000 15 75 0.00244969 0.00251912 1 1 0 MME 4311 broad.mit.edu 37 3 154855962 154855962 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:154855962C>T ENST00000460393.1 + 9 912 c.792C>T c.(790-792)atC>atT p.I264I MME_ENST00000462745.1_Silent_p.I264I|MME_ENST00000360490.2_Silent_p.I264I|MME_ENST00000493237.1_Silent_p.I264I|MME_ENST00000492661.1_Silent_p.I264I NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 264 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GATTGCCCATCGATGAAAACC 0.338000 19 271 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202447 56202447 + Nonsense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:56202447C>A ENST00000361673.3 - 5 5185 c.4972G>T c.(4972-4974)Gga>Tga p.G1658* NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1658 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCACGTTCTCCTGAAATAAAT 0.483000 42 91 1.52319e-26 1.75859e-26 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131348215 131348215 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:131348215G>A ENST00000372739.3 + 19 2859 c.2749G>A c.(2749-2751)Gac>Aac p.D917N SPTAN1_ENST00000372731.4_Missense_Mutation_p.D917N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D917N NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 917 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGGCAGCACTGACTATGGCAA 0.567000 9 118 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90634788 90634788 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:90634788C>T ENST00000330062.3 - 2 317 c.204G>A c.(202-204)gaG>gaA p.E68E IDH2_ENST00000559482.1_Silent_p.E68E|IDH2_ENST00000540499.2_Silent_p.E16E|IDH2_ENST00000539790.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 68 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding 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) GCACTACCTTCTCCTTGATGA 0.577000 M GBM 14 96 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102785108 102785108 + Missense_Mutation SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:102785108A>G ENST00000410023.1 + 7 1024 c.706A>G c.(706-708)Atg>Gtg p.M236V IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.M236V|IL1R1_ENST00000424272.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409929.1_Missense_Mutation_p.M236V|IL1R1_ENST00000233946.3_Missense_Mutation_p.M236V|IL1R1_ENST00000409329.1_Missense_Mutation_p.M236V P14778 IL1R1_HUMAN interleukin 1 receptor, type I 236 Ig-like C2-type 3. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TAATGAGACAATGGAAGTAGA 0.368000 23 122 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34811882 34811882 + Missense_Mutation SNP A A T rs140883072 TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:34811882A>T ENST00000265109.3 + 9 855 c.568A>T c.(568-570)Atg>Ttg p.M190L RAI14_ENST00000506376.1_Missense_Mutation_p.M182L|RAI14_ENST00000397449.1_Missense_Mutation_p.M183L|RAI14_ENST00000428746.2_Missense_Mutation_p.M190L|RAI14_ENST00000503673.1_Missense_Mutation_p.M190L|RAI14_ENST00000512629.1_Missense_Mutation_p.M190L|RAI14_ENST00000515799.1_Missense_Mutation_p.M193L NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 190 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) AACTGCTCTCATGCTGGCCTG 0.373000 29 131 0 0 1 0 0 C22orf31 25770 broad.mit.edu 37 22 29456409 29456409 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:29456409G>A ENST00000216071.4 - 2 477 c.426C>T c.(424-426)atC>atT p.I142I NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 142 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 CTACCTCTCTGATGCCTCCTG 0.527000 7 148 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284807 52284807 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:52284807G>T ENST00000301190.6 + 5 1304 c.1077G>T c.(1075-1077)ccG>ccT p.P359P ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 235 p.P359P(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CCCAGTCCCCGCCAGGGAGTC 0.642000 5 26 1.23904e-05 1.33922e-05 1 1 0 GPRC5A 9052 broad.mit.edu 37 12 13061550 13061550 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:13061550G>A ENST00000014914.5 + 2 1257 c.367G>A c.(367-369)Gtc>Atc p.V123I GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 123 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GACCAAGCTCGTCCGGGGGAG 0.562000 73 235 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096486 167096486 + Silent SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:167096486C>A ENST00000361200.2 + 6 2284 c.2118C>A c.(2116-2118)ccC>ccA p.P706P DUSP27_ENST00000271385.5_Silent_p.P706P|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.P706P Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 706 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCACCACACCCCTGCCTAACC 0.572000 5 48 0.000602214 0.000626895 1 1 0 PBDC1 51260 broad.mit.edu 37 X 75393429 75393429 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:75393429G>A ENST00000373358.3 + 2 243 c.40G>A c.(40-42)Gag>Aag p.E14K PBDC1_ENST00000373357.3_Missense_Mutation_p.E14K NM_016500.3 NP_057584.2 polysaccharide biosynthesis domain containing 1 GGTTTCCGGGGAGTTGGTGTC 0.592000 14 49 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784050 9784050 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:9784050G>A ENST00000304374.2 + 1 793 c.397G>A c.(397-399)Gtc>Atc p.V133I NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 133 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GAACCTGTGCGTCATCAGCGT 0.622000 16 32 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936675 4936675 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:4936675C>T ENST00000322013.3 - 1 247 c.219G>A c.(217-219)ctG>ctA p.L73L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGGTCAATCAGAGCCAGCA 0.483000 7 30 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38681515 38681515 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:38681515G>A ENST00000379931.3 + 4 1778 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.E29K|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000519416.1_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000518415.1_Intron O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 464 SPAZ 2. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) CAGGACTACTGAACAAGTGAA 0.438000 9 210 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2082732 2082732 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:2082732C>T ENST00000511885.2 - 23 2693 c.2340G>A c.(2338-2340)atG>atA p.M780I POLN_ENST00000382865.1_Missense_Mutation_p.M780I Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 780 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AGACATGGATCATGGCCAGCT 0.592000 DNA polymerases (catalytic subunits) 5 97 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23391151 23391151 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:23391151G>C ENST00000258729.3 - 6 812 c.456C>G c.(454-456)gcC>gcG p.A152A IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 152 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CAGGGATATAGGCTACTTTCA 0.537000 6 98 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70602960 70602960 + Silent SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:70602960T>C ENST00000302516.5 + 23 3391 c.3180T>C c.(3178-3180)ccT>ccC p.P1060P NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 1060 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GGCTCCCACCTAACACCAATG 0.547000 3 33 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71805057 71805057 + Splice_Site SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:71805057A>G ENST00000299980.4 - 5 1007 c.e5+1 AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000569748.1_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) AAATTACATTACCATGGTTCT 0.398000 7 61 0 0 1 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645287 13645287 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:13645287G>A ENST00000361205.4 + 7 1220 c.552G>A c.(550-552)caG>caA p.Q184Q LDLRAD4_ENST00000359446.5_Silent_p.Q184Q|LDLRAD4_ENST00000586765.1_Silent_p.Q129Q|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Silent_p.Q107Q|LDLRAD4_ENST00000592991.1_Silent_p.Q86Q|LDLRAD4_ENST00000399848.3_Silent_p.Q166Q|LDLRAD4_ENST00000587757.1_Silent_p.Q147Q NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 CTCCTTACCAGGGGCCCTGCA 0.597000 4 117 0 0 1 0 0 MBTD1 54799 broad.mit.edu 37 17 49279000 49279000 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:49279000T>C ENST00000586178.1 - 12 1520 c.1177A>G c.(1177-1179)Ata>Gta p.I393V MBTD1_ENST00000415868.1_Missense_Mutation_p.I393V|MBTD1_ENST00000376381.2_Missense_Mutation_p.I393V NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 393 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) AATGGGTCTATAGCTTCCAAT 0.318000 51 153 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91708996 91708996 + Nonsense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:91708996C>T ENST00000359028.2 + 32 7810 c.7585C>T c.(7585-7587)Cag>Tag p.Q2529* AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2517*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2529* Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2529 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAACTTACCCAGTGTTATAA 0.333000 T BRAF papillary thyroid 13 87 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144093548 144093548 + Nonsense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:144093548C>A ENST00000427704.2 + 7 1483 c.1353C>A c.(1351-1353)taC>taA p.Y451* PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.Y371*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.Y462*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.Y382*|PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.Y439* NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 451 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CTATCTTGTACACCGATGATG 0.512000 7 18 1.06961e-07 1.17611e-07 1 1 0 RASGRF2 5924 broad.mit.edu 37 5 80513198 80513198 + Missense_Mutation SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:80513198A>G ENST00000265080.4 + 25 3525 c.3458A>G c.(3457-3459)tAt>tGt p.Y1153C CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 1153 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCAGTTCCTTATCTTGGGATG 0.418000 42 88 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27592056 27592056 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:27592056C>G ENST00000493344.2 - 3 610 c.298G>C c.(298-300)Gaa>Caa p.E100Q EIF2B4_ENST00000451130.2_Missense_Mutation_p.E99Q|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E79Q|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E78Q Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 79 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGCCCGATTCTGGCAGTTCT 0.547000 28 125 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72954850 72954850 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:72954850G>C ENST00000425042.2 - 10 1235 c.1158C>G c.(1156-1158)ctC>ctG p.L386L NM_030630.2 NP_085133.1 HID1 domain containing GCACGAAGAAGAGGAATTTCT 0.627000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10543903 10543903 + Nonsense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:10543903G>A ENST00000583535.1 - 20 2353 c.2266C>T c.(2266-2268)Cag>Tag p.Q756* MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q756* NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 756 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 AATTTGTACTGAGTGTGGTCA 0.453000 27 164 0 0 1 0 0 FAM50A 9130 broad.mit.edu 37 X 153678776 153678776 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:153678776G>A ENST00000393600.3 + 13 1126 c.1016G>A c.(1015-1017)cGc>cAc p.R339H NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A 339 spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACTAGATCCGCTGAGCATCC 0.692000 8 18 0 0 1 0 0 CD8A 925 broad.mit.edu 37 2 87016465 87016465 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:87016465G>T ENST00000409511.2 - 7 1636 c.606C>A c.(604-606)atC>atA p.I202I CD8A_ENST00000352580.3_Intron|CD8A_ENST00000538832.1_Silent_p.I243I|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000283635.3_Silent_p.I202I|CD8A_ENST00000409781.1_Silent_p.I165I NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 202 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 AGTAAAGGGTGATAACCAGTG 0.617000 11 172 5.50884e-06 5.97968e-06 1 1 0 C9orf43 257169 broad.mit.edu 37 9 116185655 116185655 + Missense_Mutation SNP G G A rs148106673 byFrequency TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:116185655G>A ENST00000288462.4 + 7 979 c.533G>A c.(532-534)cGa>cAa p.R178Q C9orf43_ENST00000374165.1_Missense_Mutation_p.R178Q NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 178 breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 GCAGGAACACGAGTAGGAACA 0.473000 5 68 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413458 72413458 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:72413458G>A ENST00000395270.1 + 14 3172 c.2131G>A c.(2131-2133)Gag>Aag p.E711K POM121_ENST00000446813.1_Missense_Mutation_p.E711K|POM121_ENST00000257622.4_Missense_Mutation_p.E711K|POM121_ENST00000434423.2_Missense_Mutation_p.E976K|POM121_ENST00000358357.3_Missense_Mutation_p.E711K NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 976 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TGGGGCCGCTGAGGGGCAGCC 0.662000 5 117 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186446252 186446252 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:186446252C>G ENST00000284767.5 - 2 234 c.167G>C c.(166-168)gGg>gCg p.G56A PDLIM3_ENST00000284770.5_Missense_Mutation_p.G56A|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G56A Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 56 PDZ. sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GGACTCTGTCCCAAAGCCGTC 0.488000 20 184 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42553227 42553227 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:42553227C>T ENST00000381668.5 - 18 1821 c.1590G>A c.(1588-1590)gtG>gtA p.V530V ATP8A1_ENST00000264449.10_Silent_p.V515V NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 530 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) AATCTATAATCACCGAGTCGG 0.348000 7 92 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000424 219000424 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:219000424G>A ENST00000318507.2 + 3 1327 c.900G>A c.(898-900)gaG>gaA p.E300E NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 300 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 ATGCCACCGAGATTCTGGGCA 0.567000 4 87 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18293533 18293533 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:18293533C>T ENST00000441493.2 - 28 5844 c.5492G>A c.(5491-5493)cGt>cAt p.R1831H MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1831 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTTTTGCACACGCCGGGTCAG 0.582000 14 129 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87329767 87329767 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:87329767C>T ENST00000338056.3 + 4 731 c.320C>T c.(319-321)cCt>cTt p.P107L ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P90L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P90L NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 107 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TATGAAAGTCCTCGTAGCTTC 0.358000 21 65 0 0 1 0 0 FAM114A2 10827 broad.mit.edu 37 5 153381820 153381820 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:153381820G>C ENST00000351797.4 - 11 1323 c.1247C>G c.(1246-1248)aCt>aGt p.T416S FAM114A2_ENST00000522858.1_Missense_Mutation_p.T416S|FAM114A2_ENST00000520313.1_Missense_Mutation_p.T346S|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T416S NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 416 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CTGGGAAAGAGTTTGGCTCCT 0.423000 9 106 0 0 1 0 0 DHRS4L2 317749 broad.mit.edu 37 14 24459415 24459415 + Silent SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr14:24459415T>C ENST00000335125.6 + 2 279 c.153T>C c.(151-153)cgT>cgC p.R51R DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.R49R|DHRS4L2_ENST00000545240.1_Silent_p.R51R|DHRS4L2_ENST00000558753.1_Silent_p.R51R|DHRS4L2_ENST00000537912.1_Silent_p.R51R|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.R51R NM_198083.3 NP_932349.2 D5KJA1 D5KJA1_HUMAN dehydrogenase/reductase (SDR family) member 4 like 2 23 binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 10 GBM - Glioblastoma multiforme(265;0.00962) TCGCCCGGCGTTTGGCCCAGG 0.637000 6 146 0 0 1 0 0 LCE2B 26239 broad.mit.edu 37 1 152659474 152659474 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:152659474C>G ENST00000368780.3 + 2 209 c.155C>G c.(154-156)tCt>tGt p.S52C LCE2B_ENST00000417924.2_Missense_Mutation_p.S52C NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 52 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGTCCCATCTCTGGGGGCTGC 0.637000 18 292 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169952147 169952147 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:169952147C>T ENST00000327239.4 + 8 2334 c.830C>T c.(829-831)cCt>cTt p.P277L DHRS9_ENST00000602501.1_Missense_Mutation_p.P277L|DHRS9_ENST00000357546.2_Missense_Mutation_p.P277L|DHRS9_ENST00000428522.1_Missense_Mutation_p.P277L|DHRS9_ENST00000421653.1_Missense_Mutation_p.P130L|DHRS9_ENST00000436483.2_Missense_Mutation_p.P277L|DHRS9_ENST00000432060.2_Missense_Mutation_p.P337L|DHRS9_ENST00000412271.1_Missense_Mutation_p.P277L NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 277 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 AGTCTCTTCCCTAAGACTCAT 0.423000 9 228 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712495 32712495 + Missense_Mutation SNP A A C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:32712495A>C ENST00000265074.8 + 1 956 c.613A>C c.(613-615)Agc>Cgc p.S205R NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.S205R|NPR3_ENST00000415685.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 205 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) ACTGGTCTACAGCGACGACAA 0.637000 18 131 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103058262 103058262 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:103058262C>T ENST00000375735.2 + 43 7231 c.7087C>T c.(7087-7089)Cta>Tta p.L2363L DYNC2H1_ENST00000398093.3_Silent_p.L2363L|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2363 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGATATCAACCTACCTAAACT 0.363000 34 62 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88919847 88919847 + Missense_Mutation SNP A A C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:88919847A>C ENST00000277141.6 - 25 4193 c.1769T>G c.(1768-1770)aTg>aGg p.M590R ZCCHC6_ENST00000375960.2_Missense_Mutation_p.M1065R|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.M1263R|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.M201R|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.M1301R Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1301 PAP-associated 1. RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 AAAAGCCTTCATTATAAAATT 0.368000 6 56 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33529823 33529823 + Missense_Mutation SNP G G A rs34361405 byFrequency TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:33529823G>A ENST00000228567.3 - 7 1810 c.1514C>T c.(1513-1515)gCg>gTg p.A505V SYT10_ENST00000535526.1_Missense_Mutation_p.A324V NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 505 A -> V (in dbSNP:rs34361405). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.A505V(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AAAACTGGTCGCCCGGCCAGG 0.398000 5 43 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20424503 20424503 + Nonsense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:20424503C>A ENST00000331079.6 + 8 961 c.744C>A c.(742-744)taC>taA p.Y248* PRMT3_ENST00000437750.2_Nonsense_Mutation_p.Y186* NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 248 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 ATTTCATATACCAAAATCCAC 0.353000 30 64 5.8336e-16 6.64455e-16 1 1 0 ADTRP 84830 broad.mit.edu 37 6 11723676 11723676 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:11723676G>C ENST00000414691.3 - 5 974 c.564C>G c.(562-564)ctC>ctG p.L188L ADTRP_ENST00000229583.5_Silent_p.L206L|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Silent_p.L188L NM_032744.3 NP_116133.1 Q96IZ2 CF105_HUMAN androgen-dependent TFPI-regulating protein 188 integral to membrane CCAAGAGGCTGAGTTTGGCAA 0.498000 15 466 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149171598 149171598 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:149171598C>T ENST00000340622.3 - 7 2092 c.1812G>A c.(1810-1812)ccG>ccA p.P604P ZNF746_ENST00000458143.2_Silent_p.P605P Q6NUN9 ZN746_HUMAN zinc finger protein 746 604 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GAGGTGCGGGCGGCGTCGGGA 0.667000 4 11 0 0 1 0 0 TTPA 7274 broad.mit.edu 37 8 63978585 63978585 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:63978585C>A ENST00000260116.4 - 3 461 c.430G>T c.(430-432)Gta>Tta p.V144L TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 144 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) ACCTCCTGTACAATAAGCTCG 0.393000 8 102 0.000157383 0.000165187 1 1 0 NT5E 4907 broad.mit.edu 37 6 86197162 86197162 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:86197162C>T ENST00000257770.3 + 5 1108 c.1059C>T c.(1057-1059)tgC>tgT p.C353C NT5E_ENST00000369651.3_Silent_p.C353C NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 353 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CTCAATCATGCCGCTTTAGAG 0.413000 5 144 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1963676 1963676 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr20:1963676T>C ENST00000217305.2 - 3 280 c.55A>G c.(55-57)Aca>Gca p.T19A PDYN_ENST00000540134.1_Missense_Mutation_p.T19A|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.T19A NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 19 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGTCCGCTGTGGTGGAGGGG 0.562000 13 45 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85748079 85748079 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:85748079G>A ENST00000322366.6 - 10 1419 c.1012C>T c.(1012-1014)Ctg>Ttg p.L338L WDFY3_ENST00000295888.4_Silent_p.L338L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 338 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) GAAGTTATCAGATTAACCAGA 0.388000 6 178 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84387020 84387020 + Silent SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:84387020G>C ENST00000260505.8 - 11 1577 c.1200C>G c.(1198-1200)ctC>ctG p.L400L TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 400 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TTTGACCATAGAGCCTCCTTT 0.418000 10 138 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44449606 44449606 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:44449606C>T ENST00000360029.3 - 1 1218 c.935G>A c.(934-936)aGc>aAc p.S312N NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 312 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GGTGTAGCTGCTCCAGATCTT 0.642000 HNSCC(17;0.042) 10 27 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152587 151152587 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:151152587C>T ENST00000367328.1 + 16 2652 c.2340C>T c.(2338-2340)agC>agT p.S780S PLEKHG1_ENST00000358517.2_Silent_p.S780S NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 780 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCTGTGACAGCCTGAGGCCAT 0.552000 13 42 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159842768 159842768 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:159842768C>T ENST00000426543.2 - 11 1743 c.1288G>A c.(1288-1290)Gat>Aat p.D430N RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.D13N|CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.D515N Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 515 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TTGATCTCATCGATGCGCTCA 0.577000 44 67 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60470074 60470074 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr20:60470074G>A ENST00000360469.5 + 8 1247 c.1159G>A c.(1159-1161)Gac>Aac p.D387N CDH4_ENST00000543233.1_Missense_Mutation_p.D313N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 387 Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGATGTGAATGACAACCCGCC 0.567000 19 171 0 0 1 0 0 ZNF319 57567 broad.mit.edu 37 16 58030938 58030938 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:58030938G>A ENST00000299237.2 - 2 1854 c.1232C>T c.(1231-1233)tCt>tTt p.S411F NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CAGCTCGGCAGATTGGTCAAA 0.652000 12 71 0 0 1 0 0 ZBTB37 84614 broad.mit.edu 37 1 173840134 173840134 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:173840134G>A ENST00000367704.1 + 3 1170 c.771G>A c.(769-771)gaG>gaA p.E257E ZBTB37_ENST00000367701.4_Silent_p.E257E|ZBTB37_ENST00000427304.1_Silent_p.E257E|ZBTB37_ENST00000432989.1_Silent_p.E257E|ZBTB37_ENST00000367702.1_Silent_p.E257E Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 TTGGGCCTGAGAATCAGCCTT 0.493000 10 63 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7043387 7043387 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:7043387C>G ENST00000310085.4 - 1 1341 c.1279G>C c.(1279-1281)Gag>Cag p.E427Q RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 427 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 AAAAGTTCCTCATTTCGTTCC 0.458000 42 225 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121556 27121556 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:27121556C>G ENST00000288699.6 + 2 347 c.189C>G c.(187-189)atC>atG p.I63M DPYSL5_ENST00000401478.1_Missense_Mutation_p.I63M NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 63 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTGGCATCGACACCAGCA 0.572000 12 44 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776793 38776793 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:38776793T>C ENST00000308973.4 - 4 1024 c.419A>G c.(418-420)aAc>aGc p.N140S TLR10_ENST00000361424.2_Missense_Mutation_p.N140S|TLR10_ENST00000506111.1_Missense_Mutation_p.N140S|TLR10_ENST00000508334.1_Missense_Mutation_p.N140S NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 140 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GTGTGACATGTTGCCAGCTTC 0.393000 9 101 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158401124 158401124 + Splice_Site SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:158401124T>C ENST00000243349.7 - 5 1136 c.775_splice c.e5-1 p.D259_splice ACVR1C_ENST00000335450.7_Splice_Site_p.D179_splice|ACVR1C_ENST00000348328.5_Splice_Site_p.D102_splice|ACVR1C_ENST00000409680.3_Splice_Site_p.D209_splice NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 259 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 AGTTCCATTATCTAACAAGAA 0.318000 15 60 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37598207 37598207 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr13:37598207G>C ENST00000360252.4 - 19 1806 c.1559C>G c.(1558-1560)tCt>tGt p.S520C SUPT20H_ENST00000475892.1_Missense_Mutation_p.S519C|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S520C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.S483C|SUPT20H_ENST00000350612.6_Missense_Mutation_p.S519C|SUPT20H_ENST00000356185.3_Missense_Mutation_p.S520C NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) p.S519Y(1) GGCAGCTGGAGAAAGCATGCT 0.398000 13 82 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67685742 67685742 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:67685742G>A ENST00000334583.6 + 25 2910 c.2582G>A c.(2581-2583)aGg>aAg p.R861K RLTPR_ENST00000545661.1_Missense_Mutation_p.R825K NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 861 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GCCTTCActaggctcaggtag 0.637000 11 28 0 0 1 0 0 CLEC18C 283971 broad.mit.edu 37 16 70208872 70208872 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:70208872C>G ENST00000569347.2 + 2 401 c.147C>G c.(145-147)ttC>ttG p.F49L CLEC18C_ENST00000536907.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000541793.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000314151.8_Missense_Mutation_p.F49L|CLEC18C_ENST00000561612.1_3'UTR NM_173619.2 NP_775890.2 C-type lectin domain family 18, member C endometrium(3)|large_intestine(6)|lung(1) 10 AGGAGAGTTTCTTGCTCCTCT 0.637000 10 70 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185586 56185586 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:56185586G>T ENST00000312253.1 - 1 122 c.123C>A c.(121-123)ggC>ggA p.G41G NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ACCCAAGATTGCCCAGCACTG 0.448000 26 78 5.61819e-17 6.42802e-17 1 1 0 NUP155 9631 broad.mit.edu 37 5 37364039 37364039 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:37364039C>G ENST00000231498.3 - 3 546 c.343G>C c.(343-345)Gct>Cct p.A115P NUP155_ENST00000513532.1_Missense_Mutation_p.A115P|NUP155_ENST00000381843.2_Missense_Mutation_p.A56P NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 115 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGAGCCAAGCTCTGCTGATA 0.398000 11 240 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116046244 116046244 + Missense_Mutation SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr10:116046244G>T ENST00000603594.1 + 11 1865 c.1544G>T c.(1543-1545)gGg>gTg p.G515V VWA2_ENST00000392982.3_Missense_Mutation_p.G515V NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 515 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GAGCTGCAGGGGAAGCTGTGC 0.622000 5 46 3.59834e-05 3.84024e-05 1 1 0 MAML2 84441 broad.mit.edu 37 11 95718743 95718743 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:95718743C>T ENST00000524717.1 - 4 3691 c.2407G>A c.(2407-2409)Gac>Aac p.D803N NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 803 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CTTCTTTGGTCTTTATAATCT 0.333000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 7 34 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589992 140589992 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:140589992T>C ENST00000239450.2 + 1 1702 c.1513T>C c.(1513-1515)Tcc>Ccc p.S505P PCDHB12_ENST00000541609.1_Missense_Mutation_p.S168P NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 505 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCTGGTCTCCATCAACGC 0.672000 9 139 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43034712 43034712 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr20:43034712G>C ENST00000316099.3 + 2 219 c.130G>C c.(130-132)Gaa>Caa p.E44Q HNF4A_ENST00000457232.1_Missense_Mutation_p.E22Q|HNF4A_ENST00000415691.1_Missense_Mutation_p.E44Q|HNF4A_ENST00000443598.2_Missense_Mutation_p.E44Q NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 44 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GTCCCCATCAGAAGGCACCAA 0.627000 31 212 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41513481 41513481 + Missense_Mutation SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:41513481G>T ENST00000263253.7 + 2 1604 c.385G>T c.(385-387)Gca>Tca p.A129S NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 129 Interaction with ALX1. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AATGACACAGGCAGGCTTGAC 0.527000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 24 85 1.85244e-09 2.05467e-09 1 1 0 PCDHA9 9752 broad.mit.edu 37 5 140229382 140229382 + Silent SNP A A G rs144490151 TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:140229382A>G ENST00000378122.3 + 1 2026 c.1302A>G c.(1300-1302)tcA>tcG p.S434S PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.S434S|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCGCCTTCACTGTGGGCCA 0.622000 5 156 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412508 126412508 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:126412508C>G ENST00000394329.3 + 17 14544 c.14531C>G c.(14530-14532)tCc>tGc p.S4844C FAT4_ENST00000335110.5_Missense_Mutation_p.S3085C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4844 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 GATAGTGACTCCCATGAATCT 0.453000 10 111 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69084235 69084235 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:69084235G>C ENST00000543976.1 - 9 2438 c.2192C>G c.(2191-2193)aCa>aGa p.T731R CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.T728R|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 728 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CGCTTGTTCTGTACGCTGCAA 0.438000 28 148 0 0 1 0 0 RPS11 6205 broad.mit.edu 37 19 50002790 50002790 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:50002790C>T ENST00000270625.2 + 5 458 c.375C>T c.(373-375)atC>atT p.I125I RPS11_ENST00000599561.1_3'UTR|RPS11_ENST00000594493.1_Silent_p.I46I NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 125 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) TCGGTGACATCGTCACAGTGG 0.632000 5 43 0 0 1 0 0 PARD6G 84552 broad.mit.edu 37 18 77918269 77918269 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:77918269G>C ENST00000353265.3 - 3 713 c.516C>G c.(514-516)ttC>ttG p.F172L AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 172 Interaction with PARD3 and CDC42 (By similarity).|PDZ. cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) CGCGGATGTAGAAGCCCAGCG 0.687000 7 14 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53619585 53619585 + Nonsense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:53619585G>A ENST00000455735.2 - 4 375 c.55C>T c.(55-57)Cag>Tag p.Q19* ZNF415_ENST00000597503.1_Silent_p.Y39Y|ZNF415_ENST00000243643.4_Silent_p.Y39Y|ZNF415_ENST00000595193.1_Silent_p.Y39Y|ZNF415_ENST00000595813.1_Silent_p.Y39Y|ZNF415_ENST00000594011.1_Silent_p.Y39Y|ZNF415_ENST00000500065.4_Silent_p.Y39Y|ZNF415_ENST00000599261.1_Silent_p.Y39Y|ZNF415_ENST00000597748.1_Silent_p.Y39Y|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q19*|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000600574.1_Silent_p.Y39Y|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q19* Q09FC8 ZN415_HUMAN zinc finger protein 415 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CCAGGTTCCTGTAGTTCTCCA 0.473000 53 157 0 0 1 0 0 FUNDC1 139341 broad.mit.edu 37 X 44383462 44383462 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:44383462C>T ENST00000378045.4 - 5 618 c.450G>A c.(448-450)ttG>ttA p.L150L FUNDC1_ENST00000483115.1_5'UTR NM_173794.3 NP_776155.1 Q8IVP5 FUND1_HUMAN FUN14 domain containing 1 150 breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 CAAGTCCGAGCAAAAAGCCTC 0.378000 9 12 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179593188 179593188 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:179593188C>T ENST00000467460.1 - 6 913 c.583G>A c.(583-585)Gag>Aag p.E195K PEX5L_ENST00000472994.1_Missense_Mutation_p.E136K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E3K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E171K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E87K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E87K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E193K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.E160K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E152K NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 195 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GATTTTCTCTCTGCCATTGGA 0.388000 5 168 0 0 1 0 0 TVP23C-CDRT4 100533496 broad.mit.edu 37 17 15458637 15458637 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:15458637C>T ENST00000522212.2 - 2 166 c.54G>A c.(52-54)gcG>gcA p.A18A TVP23C_ENST00000438826.3_Silent_p.A18A|TVP23C_ENST00000225576.3_Silent_p.A18A|TVP23C_ENST00000428082.2_Silent_p.A18A|TVP23C_ENST00000518321.1_Silent_p.A18A|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_5'UTR NM_001204478.1 NP_001191407.1 TCTCCTCTTCCGCATCAAACA 0.398000 8 200 0 0 1 0 0 RIPK2 8767 broad.mit.edu 37 8 90782102 90782102 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:90782102G>C ENST00000220751.4 + 4 900 c.586G>C c.(586-588)Gaa>Caa p.E196Q RIPK2_ENST00000540020.1_Missense_Mutation_p.E59Q NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 196 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TATGCCACCTGAAAACTATGA 0.418000 56 244 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15942786 15942786 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:15942786C>T ENST00000268712.3 - 44 7173 c.6916G>A c.(6916-6918)Gag>Aag p.E2306K NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K|NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2306 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTCGTGTCTCACCACTGGTC 0.483000 6 108 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538911 55538911 + Silent SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:55538911T>C ENST00000220676.1 + 4 2617 c.2469T>C c.(2467-2469)ttT>ttC p.F823F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 823 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCATGTATTTAACATCCTTG 0.328000 6 138 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822451 103822451 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:103822451G>A ENST00000296422.7 - 12 1512 c.1371C>T c.(1369-1371)gtC>gtT p.V457V SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 457 integral to membrane solute:hydrogen antiporter activity GGGGTGCGGAGACTCTTGCTG 0.423000 5 220 0 0 1 0 0 SH3GL3 6457 broad.mit.edu 37 15 84241424 84241424 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:84241424C>G ENST00000324537.5 + 8 955 c.463C>G c.(463-465)Caa>Gaa p.Q155E SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q147E|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q155E|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q147E Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 147 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 TCAGTTACTACAAGATAAAGA 0.323000 9 54 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88932136 88932136 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:88932136G>A ENST00000277141.6 - 18 3563 c.1139C>T c.(1138-1140)tCa>tTa p.S380L ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S855L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S1091L|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.S29L|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S1091L Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1091 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 AGAGGTACCTGAATGTTTTCT 0.363000 8 124 0 0 1 0 0 GSTP1 2950 broad.mit.edu 37 11 67353607 67353607 + Silent SNP G G T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:67353607G>T ENST00000398606.3 + 6 618 c.369G>T c.(367-369)ctG>ctT p.L123L GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Intron NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 123 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) TGAAGGCACTGCCCGGGCAAC 0.597000 6 33 0.217242 0.217242 1 1 0 CNR2 1269 broad.mit.edu 37 1 24201772 24201772 + Silent SNP G G A rs142210955 TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:24201772G>A ENST00000536471.1 - 3 594 c.336C>T c.(334-336)agC>agT p.S112S CNR2_ENST00000374472.4_Silent_p.S112S P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 112 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TCATAGTCACGCTGCCAATCT 0.527000 4 111 0 0 1 0 0 SGK3 23678 broad.mit.edu 37 8 67740902 67740902 + Nonsense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:67740902C>G ENST00000396596.1 + 7 645 c.431C>G c.(430-432)tCa>tGa p.S144* SGK3_ENST00000522398.1_Nonsense_Mutation_p.S144*|C8orf44-SGK3_ENST00000519289.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000345714.4_Nonsense_Mutation_p.S144*|SGK3_ENST00000520976.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000521198.2_Nonsense_Mutation_p.S144* NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 144 cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) CACTCTACCTCACAGAACATC 0.323000 20 218 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801523 67801523 + Silent SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr13:67801523A>G ENST00000544246.1 - 2 1741 c.1050T>C c.(1048-1050)gaT>gaC p.D350D PCDH9_ENST00000328454.5_Silent_p.D350D|PCDH9_ENST00000377865.2_Silent_p.D350D|PCDH9_ENST00000377861.3_Silent_p.D350D|PCDH9_ENST00000456367.1_Silent_p.D350D NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 350 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TATCATTTACATCGGTGACAT 0.448000 17 180 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88478496 88478496 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr10:88478496G>C ENST00000429277.2 + 12 2030 c.1885G>C c.(1885-1887)Gcc>Ccc p.A629P LDB3_ENST00000352360.5_Missense_Mutation_p.A367P|LDB3_ENST00000458213.2_Missense_Mutation_p.A514P|LDB3_ENST00000263066.6_Missense_Mutation_p.A514P|LDB3_ENST00000361373.4_Missense_Mutation_p.A624P NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 624 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 AGTAATGCATGCCTTGAGACA 0.587000 44 87 0 0 1 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474188 99474188 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:99474188G>A ENST00000316368.2 - 1 492 c.469C>T c.(469-471)Cta>Tta p.L157L NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) ATGTGAATTAGGGAGTTCACG 0.507000 4 130 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8624994 8624994 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:8624994C>G ENST00000329286.6 + 2 568 c.285C>G c.(283-285)atC>atG p.I95M NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 95 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 GATTACAGATCTGGTAAGTGG 0.358000 21 122 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113146877 113146877 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:113146877G>A ENST00000302558.3 - 20 3836 c.3645C>T c.(3643-3645)gtC>gtT p.V1215V RGPD8_ENST00000409750.1_Silent_p.V1075V NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CTTCCTCAGTGACTTTTGTTT 0.418000 13 521 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951771 130951771 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:130951771C>T ENST00000312988.7 - 4 744 c.644G>A c.(643-645)cGc>cAc p.R215H NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 215 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) GTCCAGGTTGCGCCGACATAT 0.552000 5 156 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10729668 10729668 + Silent SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr16:10729668C>G ENST00000283025.2 - 6 1265 c.1194G>C c.(1192-1194)cgG>cgC p.R398R TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 398 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GGCGCCGGGTCCGGCACTCCA 0.622000 14 174 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153494169 153494169 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:153494169G>A ENST00000288670.9 + 23 3294 c.2927G>A c.(2926-2928)cGg>cAg p.R976Q FMNL2_ENST00000475377.2_Missense_Mutation_p.R351Q NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 976 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GTCTTTGTCCGGTTTGTGAAA 0.438000 7 57 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158552833 158552833 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:158552833G>A ENST00000251527.5 - 12 1448 c.1383C>T c.(1381-1383)ttC>ttT p.F461F NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 489 C2 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CGTCCAGAGTGAACCACTGAA 0.438000 5 90 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891920 44891920 + Nonsense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:44891920G>A ENST00000330997.4 - 4 551 c.487C>T c.(487-489)Cag>Tag p.Q163* CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q163*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q170* NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TATCTTCCCTGAGAGTTCTGG 0.453000 14 235 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722576 50722576 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:50722576C>T ENST00000449103.1 - 13 2388 c.2248G>A c.(2248-2250)Gac>Aac p.D750N PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.D750N O15031 PLXB2_HUMAN plexin B2 750 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGCTTGCTGTCGATATTCTTG 0.682000 28 64 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138643976 138643976 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:138643976G>A ENST00000218099.2 + 8 1139 c.1132G>A c.(1132-1134)Gac>Aac p.D378N F9_ENST00000394090.2_Missense_Mutation_p.D340N NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 378 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TCCACTTGTTGACCGAGCCAC 0.443000 8 54 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542841 14542841 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr18:14542841C>A ENST00000358970.5 - 1 304 c.305G>T c.(304-306)tGc>tTc p.C102F POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 102 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GCAGTGACAGCACCACTTGCC 0.617000 57 271 1.4709e-25 1.69054e-25 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50850745 50850745 + Nonsense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:50850745C>A ENST00000404971.1 - 7 2279 c.940G>T c.(940-942)Gaa>Taa p.E314* NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.E281*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E281*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E281* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 281 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCAATATATTCTTCTTTTCCT 0.358000 15 35 1.49906e-05 1.61339e-05 1 1 0 ANK3 288 broad.mit.edu 37 10 61898790 61898790 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr10:61898790C>T ENST00000280772.1 - 24 2861 c.2670G>A c.(2668-2670)aaG>aaA p.K890K ANK3_ENST00000503366.1_Silent_p.K891K|ANK3_ENST00000373827.2_Silent_p.K884K|ANK3_ENST00000460468.1_Silent_p.K54K|ANK3_ENST00000355288.2_Silent_p.K24K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 890 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CACCCAATTCCTTAAGGTCCT 0.483000 35 110 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134027841 134027841 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr11:134027841C>T ENST00000534548.2 - 31 4220 c.4156G>A c.(4156-4158)Gaa>Aaa p.E1386K NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1386 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CACGTTTTTTCTGGGCTTCCA 0.443000 36 247 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229355 140229355 + Silent SNP T T G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr5:140229355T>G ENST00000378122.3 + 1 1999 c.1275T>G c.(1273-1275)gtT>gtG p.V425V PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V425V|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGGTGGTTACCGCGCGGG 0.637000 7 199 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113342480 113342480 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:113342480C>G ENST00000264852.4 + 23 2933 c.2207C>G c.(2206-2208)tCt>tGt p.S736C SIDT1_ENST00000393830.3_Missense_Mutation_p.S741C|SIDT1_ENST00000463226.1_3'UTR NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 736 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CTCCGCAGCTCTGAAAAGGTC 0.642000 10 250 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25472025 25472025 + Nonsense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr20:25472025C>A ENST00000278886.6 - 11 1520 c.1447G>T c.(1447-1449)Gag>Tag p.E483* NINL_ENST00000422516.1_Nonsense_Mutation_p.E483* NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 483 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 AGGCCAGCCTCCTCAGCCTGC 0.701000 10 55 2.68362e-12 3.02951e-12 1 1 0 STX17 55014 broad.mit.edu 37 9 102713369 102713369 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr9:102713369G>C ENST00000259400.6 + 4 353 c.217G>C c.(217-219)Gag>Cag p.E73Q STX17_ENST00000534052.1_Missense_Mutation_p.E73Q|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Missense_Mutation_p.E73Q NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 73 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CCGAGAAATTGAGAAACTTTG 0.333000 16 55 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169952187 169952187 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:169952187C>T ENST00000327239.4 + 8 2374 c.870C>T c.(868-870)ttC>ttT p.F290F DHRS9_ENST00000602501.1_Silent_p.F290F|DHRS9_ENST00000357546.2_Silent_p.F290F|DHRS9_ENST00000428522.1_Silent_p.F290F|DHRS9_ENST00000421653.1_Silent_p.F143F|DHRS9_ENST00000436483.2_Silent_p.F290F|DHRS9_ENST00000432060.2_Silent_p.F350F|DHRS9_ENST00000412271.1_Silent_p.F290F NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 290 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 CCAAAATTTTCTGGATACCTC 0.468000 8 173 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5785373 5785373 + Missense_Mutation SNP A A T rs140567069 TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr4:5785373A>T ENST00000382674.2 + 12 1842 c.1658A>T c.(1657-1659)gAg>gTg p.E553V EVC_ENST00000264956.6_Missense_Mutation_p.E553V P57679 EVC_HUMAN Ellis van Creveld syndrome 553 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CCCCCGGAAGAGTGTGACTAC 0.587000 9 48 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99019911 99019911 + Missense_Mutation SNP T T A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:99019911T>A ENST00000299157.4 - 3 1304 c.931A>T c.(931-933)Atg>Ttg p.M311L IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 312 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 GCTTTCAGCATATCATCTTCC 0.348000 22 59 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38871556 38871556 + Silent SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:38871556T>C ENST00000487273.2 + 4 405 c.327T>C c.(325-327)aaT>aaC p.N109N ADAM9_ENST00000481513.1_Silent_p.N109N|ADAM9_ENST00000466936.1_Silent_p.N109N NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 109 Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) ACCATCCCAATATACAGGTAA 0.328000 14 160 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39508284 39508284 + Nonsense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr14:39508284G>C ENST00000537403.1 - 15 2755 c.1553C>G c.(1552-1554)tCa>tGa p.S518* SEC23A_ENST00000545328.2_Nonsense_Mutation_p.S691*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.S618*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.S720* Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 720 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GTTGACTTTTGAAAGGAGGAA 0.328000 10 147 0 0 1 0 0 PDIA3 2923 broad.mit.edu 37 15 44053674 44053674 + Silent SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr15:44053674C>G ENST00000300289.5 + 4 565 c.417C>G c.(415-417)ctC>ctG p.L139L PDIA3_ENST00000538521.1_Silent_p.L119L NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 139 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) CAGTGCCTCTCAGGACTGAGG 0.363000 3 63 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58131949 58131949 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:58131949C>A ENST00000396161.5 + 3 772 c.462C>A c.(460-462)caC>caA p.H154Q NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 154 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGGCCATCCACAGTAAGAGGA 0.483000 10 46 0.0692343 0.0700618 1 1 0 BZRAP1 9256 broad.mit.edu 37 17 56388367 56388367 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:56388367C>G ENST00000355701.3 - 19 4159 c.3289G>C c.(3289-3291)Gag>Cag p.E1097Q BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1097Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1037Q NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1097 Pro-rich. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCTGGCCTCTGGGCTTGGG 0.701000 7 9 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58049430 58049430 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:58049430G>A ENST00000376233.3 + 4 1239 c.1058G>A c.(1057-1059)aGa>aAa p.R353K ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R340K NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATCAGCAGAGAATCCACACT 0.443000 6 136 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80447685 80447685 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:80447685T>C ENST00000265361.3 - 5 938 c.377A>G c.(376-378)cAt>cGt p.H126R SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Missense_Mutation_p.H144R|SEMA3C_ENST00000419255.2_Missense_Mutation_p.H126R NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 126 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GACATACAAATGTGTGCGATT 0.388000 5 96 0 0 1 0 0 UBXN6 80700 broad.mit.edu 37 19 4445519 4445519 + Silent SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:4445519C>A ENST00000301281.6 - 11 1426 c.1302G>T c.(1300-1302)ctG>ctT p.L434L UBXN6_ENST00000394765.3_Silent_p.L381L NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 434 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 CGATGGCTGACAGGAGCTCGG 0.627000 8 175 0.0477658 0.04853 1 1 0 OSBP2 23762 broad.mit.edu 37 22 31302302 31302302 + Nonsense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:31302302G>A ENST00000332585.6 + 14 2831 c.2727G>A c.(2725-2727)tgG>tgA p.W909* OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W542*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W652*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W908*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W743*|OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W453*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W736* NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 909 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGCAAGACTGGCATATGTGCC 0.557000 4 128 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180022217 180022217 + Silent SNP A A G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:180022217A>G ENST00000367607.3 + 23 5323 c.4905A>G c.(4903-4905)agA>agG p.R1635R NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1635 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GTCACCGCAGATTTAACATGG 0.368000 13 79 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080141 29080141 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:29080141C>G ENST00000377169.1 + 1 474 c.474C>G c.(472-474)aaC>aaG p.N158K NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 GTTTTACCAACTCAGCACTTC 0.493000 10 207 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206869117 206869117 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:206869117G>C ENST00000403263.1 - 11 3463 c.3059C>G c.(3058-3060)tCt>tGt p.S1020C NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 0 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 AAAGGGAGAAGATGCATTATT 0.522000 4 10 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179592146 179592146 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:179592146G>A ENST00000467460.1 - 7 1025 c.695C>T c.(694-696)gCt>gTt p.A232V PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 232 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CAATTCTGAAGCCGACTCAGA 0.393000 33 115 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399031 90399031 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr1:90399031C>G ENST00000337338.5 + 3 811 c.404C>G c.(403-405)aCa>aGa p.T135R LRRC8D_ENST00000394593.3_Missense_Mutation_p.T135R NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 135 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) AAAGATCCAACAGGTCGAAAA 0.408000 5 71 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79517412 79517412 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:79517412C>T ENST00000537152.1 - 3 1180 c.655G>A c.(655-657)Gat>Aat p.D219N C17orf70_ENST00000327787.8_Missense_Mutation_p.D370N NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 370 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CGAGACAGATCCACCACACAG 0.692000 41 60 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319683 21319683 + Silent SNP G G A rs111482429 byFrequency TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:21319683G>A ENST00000583088.1 + 3 1924 c.1029G>A c.(1027-1029)tcG>tcA p.S343S KCNJ12_ENST00000331718.5_Silent_p.S343S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.S343S(2) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TTGACTACTCGCACTTCCACA 0.582000 Prostate(3;0.18) 29 237 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215818734 215818734 + Missense_Mutation SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr2:215818734G>A ENST00000272895.7 - 44 6710 c.6491C>T c.(6490-6492)tCg>tTg p.S2164L ABCA12_ENST00000389661.4_Missense_Mutation_p.S1846L|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2164 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTCTAGGACCGACTGTTGTTG 0.398000 31 78 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45797632 45797632 + Missense_Mutation SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:45797632C>T ENST00000300843.4 + 14 1817 c.1520C>T c.(1519-1521)aCc>aTc p.T507I MARK4_ENST00000262891.4_Missense_Mutation_p.T507I NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 507 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGCATGATGACCCGCAGAAAC 0.587000 20 69 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137247 56137247 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr20:56137247C>T ENST00000319441.4 + 3 509 c.345C>T c.(343-345)cgC>cgT p.R115R PCK1_ENST00000535860.1_Intron|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 115 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AGCTCGGTCGCTGGATGTCAG 0.527000 7 54 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54276531 54276531 + Missense_Mutation SNP C C A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:54276531C>A ENST00000354646.2 - 16 3047 c.2609G>T c.(2608-2610)cGg>cTg p.R870L WNK3_ENST00000375159.2_Missense_Mutation_p.R870L|WNK3_ENST00000375169.3_Missense_Mutation_p.R870L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 870 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GAATCGCCACCGACCAACTGG 0.418000 6 7 0.217242 0.217242 1 1 0 ZFAT 57623 broad.mit.edu 37 8 135621016 135621016 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr8:135621016G>A ENST00000520727.1 - 6 1004 c.705C>T c.(703-705)taC>taT p.Y235Y ZFAT_ENST00000523399.1_Silent_p.Y185Y|ZFAT_ENST00000520214.1_Silent_p.Y235Y|ZFAT_ENST00000377838.3_Silent_p.Y247Y|ZFAT_ENST00000520356.1_Silent_p.Y235Y|ZFAT_ENST00000429442.2_Silent_p.Y235Y NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCTGAATGGCGTATTCCTGGT 0.507000 44 119 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153284056 153284056 + Silent SNP C C T TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chrX:153284056C>T ENST00000369980.3 - 5 890 c.723G>A c.(721-723)ctG>ctA p.L241L IRAK1_ENST00000393687.2_Silent_p.L241L|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Silent_p.L241L|IRAK1_ENST00000429936.2_Silent_p.L267L|IRAK1_ENST00000393682.1_Silent_p.L267L NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 241 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACCTCCTTCAGCCTCTTCA 0.602000 25 90 0 0 1 0 0 ZNF789 285989 broad.mit.edu 37 7 99084423 99084423 + Missense_Mutation SNP G G C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:99084423G>C ENST00000331410.5 + 5 860 c.590G>C c.(589-591)aGa>aCa p.R197T ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATTCTCACAAGAGCAAAGTCT 0.413000 15 182 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140158912 140158912 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr7:140158912G>A ENST00000255977.2 - 4 890 c.666C>T c.(664-666)tgC>tgT p.C222C MKRN1_ENST00000443720.2_Silent_p.C222C|MKRN1_ENST00000474576.1_Silent_p.C158C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 222 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) CCCCGTATCGGCACTCTCCCA 0.557000 5 193 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182602674 182602674 + Frame_Shift_Del DEL T T - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr3:182602674delT ENST00000323116.5 + 22 2903 c.2643delT c.(2641-2643)tafs p.Y881fs NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 881 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Y884fs*30(1) breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TTGTACAGTATTTTTTTTATA 0.269 8 183 --- --- --- --- OR2H1 26716 broad.mit.edu 37 6 29429951 29429951 + Frame_Shift_Del DEL C C - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr6:29429951delC ENST00000377136.1 + 4 870 c.405delC c.(403-405)cafs p.H135fs OR2H1_ENST00000396792.2_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000442615.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377133.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377132.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000473369.1_3'UTR Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CCATCATCCACCCCCGCCTGT 0.597 24 203 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132496061 132496063 + In_Frame_Del DEL TTG TTG - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr12:132496061_132496063delTTG ENST00000333577.4 + 17 3540_3542 c.3431_3433delTTG c.(3430-3435)ctt>c p.LV1144del EP400_ENST00000389562.2_In_Frame_Del_p.LV1107del|EP400_ENST00000332482.4_In_Frame_Del_p.LV1071del|EP400_ENST00000330386.6_In_Frame_Del_p.LV1108del|EP400_ENST00000389561.2_In_Frame_Del_p.LV1108del Q96L91 EP400_HUMAN E1A binding protein p400 1144 Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.V1108L(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCCCCCATCTTGTTGTTGTGAG 0.453 9 132 --- --- --- --- EDNRB 1910 broad.mit.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr13:78475267delA ENST00000377211.4 - 5 1299 c.1147delT c.(1147-1149)atfs p.Y383fs EDNRB_ENST00000334286.5_Frame_Shift_Del_p.Y293fs|EDNRB_ENST00000446573.1_Frame_Shift_Del_p.Y293fs NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 293 P -> L (in HSCR2; familial). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding p.Y293fs*3(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ATTAGTGTATAAAAAAATGCA 0.343 21 91 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577531 7577532 + Frame_Shift_Del DEL GG GG - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:7577531_7577532delGG ENST00000420246.2 - 7 881_882 c.749_750delCC c.(748-750)cfs p.P250fs TP53_ENST00000455263.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P250fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 250 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250_T253delPILT(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.I251fs*13(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250delRP(1)|p.P250_I251insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGAGGATGGGCCTCCGGTT 0.574 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 51 53 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578250 7578250 + Frame_Shift_Del DEL T T - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:7578250delT ENST00000420246.2 - 6 731 c.599delA c.(598-600)atfs p.N200fs TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 200 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACACGCAAATTTCCTTCCAC 0.547 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 94 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80789951 80789951 + Frame_Shift_Del DEL C C - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr17:80789951delC ENST00000269394.3 - 2 1213 c.380delG c.(379-381)gafs p.G127fs TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 127 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGGCTTCTGTCCCAGGCACCT 0.642 12 54 --- --- --- --- LGALS16 148003 broad.mit.edu 37 19 40148570 40148570 + Frame_Shift_Del DEL A A - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr19:40148570delA ENST00000392051.3 + 2 131 c.63delA c.(61-63)atfs p.I22fs NM_001190441.1 NP_001177370.1 A8MUM7 A8MUM7_HUMAN lectin, galactoside-binding, soluble, 16 22 sugar binding CCTGCGTGATAATCAAAGGGA 0.483 29 108 --- --- --- --- OR11H1 81061 broad.mit.edu 37 22 16449803 16449805 + Translation_Start_Site DEL ATT ATT - TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 664738f6-61da-48fa-aa97-0f115384a71d a4e20a0d-a705-4c7a-b83a-249ad1e46724 g.chr22:16449803_16449805delATT ENST00000252835.4 - 0 0_2 NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) CAAGGGACACATTATCAGTCAGG 0.340 9 57 --- --- --- ---