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 BHLHE41 79365 broad.mit.edu 37 12 26276075 26276075 + Nonsense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:26276075G>A ENST00000242728.4 - 5 720 c.373C>T c.(373-375)Cag>Tag p.Q125* NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 125 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 AAGTCGGACTGAATGGGCGAT 0.552000 OREG0021711 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20352473 20352473 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:20352473C>T ENST00000396134.2 - 8 1739 c.1616G>A c.(1615-1617)tGc>tAc p.C539Y UMOD_ENST00000302509.4_Missense_Mutation_p.C506Y|UMOD_ENST00000570689.1_Missense_Mutation_p.C506Y|UMOD_ENST00000396138.4_Missense_Mutation_p.C555Y|UMOD_ENST00000424589.1_Missense_Mutation_p.C539Y|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.C506Y NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 506 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGTGGCATAGCAGTTGGTCAT 0.542000 9 44 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940601 36940601 + Missense_Mutation SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr19:36940601T>C ENST00000454319.1 - 5 672 c.538A>G c.(538-540)Acc>Gcc p.T180A ZNF566_ENST00000424129.2_Missense_Mutation_p.T179A|ZNF566_ENST00000392170.2_Missense_Mutation_p.T180A|ZNF566_ENST00000434377.2_Missense_Mutation_p.T179A|ZNF566_ENST00000493391.1_Missense_Mutation_p.T75A NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TGTCTAAAGGTTTTCCTATAT 0.373000 5 42 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691688 31691688 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr6:31691688C>A ENST00000375809.3 + 2 345 c.334C>A c.(334-336)Cac>Aac p.H112N C6orf25_ENST00000480039.1_Missense_Mutation_p.H112N|C6orf25_ENST00000375805.2_Missense_Mutation_p.H112N|C6orf25_ENST00000375810.4_Missense_Mutation_p.H112N NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 112 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 CAAGGGCCGCCACGAGGACGA 0.657000 70 76 7.25294e-45 8.20192e-45 1 1 0 CST9L 128821 broad.mit.edu 37 20 23546710 23546710 + Silent SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr20:23546710A>G ENST00000376979.3 - 2 553 c.255T>C c.(253-255)acT>acC p.T85T NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 85 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) TTGAGAATACAGTCTTGGACT 0.458000 20 70 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115750 168115750 + Silent SNP T T A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:168115750T>A ENST00000409728.1 + 11 2882 c.2793T>A c.(2791-2793)ggT>ggA p.G931G XIRP2_ENST00000409043.1_Silent_p.G898G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Silent_p.G676G|XIRP2_ENST00000409756.2_Silent_p.G898G|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Silent_p.G931G NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAACACAGGTTTTGATGCTC 0.413000 24 28 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59515824 59515824 + Silent SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr8:59515824G>C ENST00000038176.3 - 13 1202 c.990C>G c.(988-990)ctC>ctG p.L330L NSMAF_ENST00000427130.2_Silent_p.L361L|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 330 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GGTACTGGGAGAGGTCGTTGC 0.517000 23 121 0 0 1 0 0 ROPN1B 152015 broad.mit.edu 37 3 125701190 125701190 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr3:125701190C>T ENST00000514116.1 + 6 789 c.474C>T c.(472-474)ttC>ttT p.F158F ROPN1B_ENST00000505382.1_Silent_p.F66F|ROPN1B_ENST00000511082.1_Silent_p.F66F|ROPN1B_ENST00000251776.4_Silent_p.F158F Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 158 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) GAATCCCATTCAGCACCTTCC 0.428000 15 59 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80772197 80772197 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:80772197C>A ENST00000466387.1 + 14 2105 c.1381C>A c.(1381-1383)Cag>Aag p.Q461K CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q140K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q461K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q461K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q461K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q461K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q495K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 461 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CCTGTGTCCCCAGGTAAGCCT 0.483000 8 21 0.000274275 0.000286097 1 1 0 TTN 7273 broad.mit.edu 37 2 179605437 179605437 + Missense_Mutation SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:179605437G>C ENST00000589042.1 - 48 12747 c.12523C>G c.(12523-12525)Cag>Gag p.Q4175E TTN_ENST00000342175.6_Missense_Mutation_p.Q4004E|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q3858E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3937E|TTN_ENST00000460472.2_Missense_Mutation_p.Q3812E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3858 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) AGAACTGCCTGTGTCTCAGGC 0.428000 28 10 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647740 20647740 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:20647740G>A ENST00000272233.4 + 1 906 c.514G>A c.(514-516)Gag>Aag p.E172K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 172 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CGAGGTCTTCGAGACGGCCAC 0.687000 28 67 0 0 1 0 0 JRKL 8690 broad.mit.edu 37 11 96124104 96124104 + Silent SNP A A T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr11:96124104A>T ENST00000458427.1 + 1 947 c.291A>T c.(289-291)atA>atT p.I97I JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Silent_p.I97I NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 97 HTH CENPB-type. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) GGAATCCCATATCTGGACCAA 0.443000 8 27 0 0 1 0 0 ATG4C 84938 broad.mit.edu 37 1 63282349 63282349 + Nonsense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:63282349G>A ENST00000317868.4 + 4 471 c.264G>A c.(262-264)tgG>tgA p.W88* ATG4C_ENST00000371120.3_Nonsense_Mutation_p.W88* NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C, cysteine peptidase 88 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 CTAGAATATGGCTGACCTACA 0.438000 4 23 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61503822 61503822 + Splice_Site SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr11:61503822G>A ENST00000257215.5 + 13 1487 c.1371G>A c.(1369-1371)ctG>ctA p.L457L NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 457 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GGCGAGACCTGGTGAGGAATT 0.562000 12 48 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 53 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192349 22192349 + RNA SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr14:22192349T>C ENST00000390425.2 + 0 300 GACTGTGAAATGCACCTATTC 0.473000 39 16 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57737776 57737776 + Nonsense_Mutation SNP G G T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:57737776G>T ENST00000269122.3 + 7 1268 c.994G>T c.(994-996)Gaa>Taa p.E332* CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.E332* NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 332 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGTGGAAGAAGAAAACATAAT 0.373000 T """ALK, TFE3""" """ALCL, renal """ 10 80 0.000442599 0.000453852 1 1 0 PIGA 5277 broad.mit.edu 37 X 15343168 15343168 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chrX:15343168C>A ENST00000333590.4 - 4 1039 c.955G>T c.(955-957)Gtg>Ttg p.V319L PIGA_ENST00000428964.1_Missense_Mutation_p.V4L|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.V85L NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 319 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) GCTGCTTCCACGATCGCCATG 0.383000 3 25 0.00909568 0.00917148 1 1 0 TTN 7273 broad.mit.edu 37 2 179665393 179665393 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:179665393G>A ENST00000589042.1 - 4 536 c.312C>T c.(310-312)ccC>ccT p.P104P TTN_ENST00000342175.6_Silent_p.P104P|TTN_ENST00000342992.6_Silent_p.P104P|TTN_ENST00000591111.1_Silent_p.P104P|TTN_ENST00000360870.5_Silent_p.P104P|TTN_ENST00000359218.5_Silent_p.P104P|TTN_ENST00000460472.2_Silent_p.P104P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 104 Ig-like 2. 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) GAACGAAGTTGGGTGGTGCTG 0.498000 30 14 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237072 43237072 + Missense_Mutation SNP G G T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr19:43237072G>T ENST00000327495.5 - 3 757 c.573C>A c.(571-573)caC>caA p.H191Q PSG3_ENST00000595140.1_Missense_Mutation_p.H191Q NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 191 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) ACTGCAAGCTGTGAGTCATAG 0.502000 24 283 3.6726e-16 4.07693e-16 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 53 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33893707 33893707 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr15:33893707C>T ENST00000389232.4 + 17 1946 c.1876C>T c.(1876-1878)Cgg>Tgg p.R626W RYR3_ENST00000415757.3_Missense_Mutation_p.R626W NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 626 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTTGCTGCCCCGGAGAAACCT 0.522000 11 16 0 0 1 0 0 NXPH4 11247 broad.mit.edu 37 12 57618770 57618770 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:57618770C>T ENST00000349394.5 + 2 342 c.167C>T c.(166-168)tCg>tTg p.S56L NXPH4_ENST00000555154.1_3'UTR NM_007224.3 NP_009155.1 O95158 NXPH4_HUMAN neurexophilin 4 56 II. S -> T (in Ref. 3; AAH36679). neuropeptide signaling pathway extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 10 CCAAGGTCTTCGGACGGCCTA 0.776000 2 2 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436765 248436765 + Missense_Mutation SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:248436765A>G ENST00000318021.2 - 1 373 c.352T>C c.(352-354)Tat>Cat p.Y118H NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) TAGCGGTCATAGGCCATGGCT 0.602000 13 55 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73609545 73609545 + Silent SNP C C T rs138158412 TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:73609545C>T ENST00000265753.8 + 7 793 c.654C>T c.(652-654)gtC>gtT p.V218V EIF4H_ENST00000353999.6_Silent_p.V198V NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 218 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 CTCGAACAGTCGCGACGCCCC 0.532000 8 75 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93530797 93530797 + Missense_Mutation SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr11:93530797G>C ENST00000251871.3 + 8 1527 c.1240G>C c.(1240-1242)Gat>Cat p.D414H MED17_ENST00000533367.1_3'UTR NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 414 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCAAGCTTTTGATAAAAATGA 0.373000 35 115 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585919 82585919 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:82585919C>T ENST00000333891.9 - 5 4687 c.4350G>A c.(4348-4350)gaG>gaA p.E1450E PCLO_ENST00000423517.2_Silent_p.E1450E NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTGAGTTTTCTCTTGGTCTT 0.363000 9 30 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66942339 66942339 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:66942339G>A ENST00000299752.4 - 18 2639 c.2446C>T c.(2446-2448)Ccg>Tcg p.P816S CDH16_ENST00000568632.1_Missense_Mutation_p.P719S|CDH16_ENST00000565796.1_Missense_Mutation_p.P777S|CDH16_ENST00000570262.1_Missense_Mutation_p.P736S|CDH16_ENST00000394055.3_Missense_Mutation_p.P794S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 816 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GGTTGATCCGGGTCCTTCTTC 0.592000 29 52 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9854684 9854684 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr3:9854684C>T ENST00000547186.1 + 3 322 c.106C>T c.(106-108)Cgg>Tgg p.R36W ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R130W|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000426895.4_Missense_Mutation_p.R179W|TTLL3_ENST00000397241.1_5'UTR NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 36 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TCTCTTGCGCCGGAGGGGCTG 0.537000 9 27 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51331030 51331030 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr19:51331030C>A ENST00000326856.4 - 3 211 c.82G>T c.(82-84)Gca>Tca p.A28S KLK15_ENST00000301421.2_Missense_Mutation_p.A29S|KLK15_ENST00000598239.1_Missense_Mutation_p.A29S|KLK15_ENST00000416184.1_Missense_Mutation_p.A29S|KLK15_ENST00000596931.1_Missense_Mutation_p.A28S NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 29 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GAGTGGGGTGCACACTCGTCA 0.587000 10 56 0.000442599 0.000453852 1 1 0 DCTN2 10540 broad.mit.edu 37 12 57929310 57929310 + Missense_Mutation SNP C C G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:57929310C>G ENST00000548249.1 - 4 488 c.221G>C c.(220-222)gGa>gCa p.G74A DCTN2_ENST00000537439.1_Missense_Mutation_p.G51A|DCTN2_ENST00000434715.3_Missense_Mutation_p.G79A|DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000543672.1_Missense_Mutation_p.G79A NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 74 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 CTTGGTTTTTCCAATACGATC 0.463000 14 36 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206651603 206651603 + Missense_Mutation SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:206651603A>G ENST00000367120.3 + 9 1286 c.913A>G c.(913-915)Atc>Gtc p.I305V IKBKE_ENST00000537984.1_Missense_Mutation_p.I220V NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 305 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GACCAGTGACATCCTGCAGCG 0.612000 21 72 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437138 120437138 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:120437138C>A ENST00000369400.1 - 1 1980 c.1822G>T c.(1822-1824)Gat>Tat p.D608Y NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 608 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GAGGTGCCATCATTTATCATA 0.438000 11 60 1.58986e-06 1.68749e-06 1 1 0 PARP4 143 broad.mit.edu 37 13 25066624 25066624 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr13:25066624G>A ENST00000381989.3 - 9 1093 c.988C>T c.(988-990)Cac>Tac p.H330Y NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 330 PARP alpha-helical. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GTGCCTTTGTGAGGTATCAGT 0.413000 16 21 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98996707 98996707 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:98996707G>A ENST00000393504.1 + 4 702 c.285G>A c.(283-285)ccG>ccA p.P95P CNGA3_ENST00000436404.2_Silent_p.P95P|CNGA3_ENST00000409937.1_Silent_p.P99P|CNGA3_ENST00000272602.2_Silent_p.P95P NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 95 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 ACCAGGGACCGGACTCTTTTC 0.602000 10 54 0 0 1 0 0 PTK6 5753 broad.mit.edu 37 20 62164040 62164040 + Splice_Site SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr20:62164040T>C ENST00000217185.2 - 5 698 c.671A>G c.(670-672)gAc>gGc p.D224G PTK6_ENST00000542869.1_Splice_Site_p.D123G NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 224 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CAGGAGGTTGTCTGCGGGGAC 0.662000 15 37 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48500447 48500447 + Silent SNP G G T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr20:48500447G>T ENST00000417961.1 + 14 1593 c.1383G>T c.(1381-1383)cgG>cgT p.R461R SLC9A8_ENST00000539601.1_Silent_p.R226R|SLC9A8_ENST00000361573.2_Silent_p.R445R|SLC9A8_ENST00000541138.1_Silent_p.R145R NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 445 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TGGAGAAGCGGCAGCTCATCG 0.622000 31 51 2.47511e-08 2.674e-08 1 1 0 CHST5 23563 broad.mit.edu 37 16 75563650 75563650 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:75563650G>A ENST00000336257.3 - 3 2027 c.633C>T c.(631-633)agC>agT p.S211S RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S217S NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 211 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GCGCGGGGTCGCTGAGCAGCG 0.706000 7 138 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2102436 2102436 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:2102436C>A ENST00000280665.6 - 3 392 c.313G>T c.(313-315)Gcc>Tcc p.A105S DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 105 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) TCACATCTGGCATTTCTGTAG 0.388000 35 75 5.43694e-19 6.09138e-19 1 1 0 CALD1 800 broad.mit.edu 37 7 134617837 134617837 + Missense_Mutation SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:134617837G>C ENST00000361388.2 + 5 783 c.317G>C c.(316-318)aGa>aCa p.R106T CALD1_ENST00000543443.1_Missense_Mutation_p.R111T|CALD1_ENST00000361675.2_Missense_Mutation_p.R106T|CALD1_ENST00000495522.1_Missense_Mutation_p.R100T|CALD1_ENST00000422748.1_Missense_Mutation_p.R106T|CALD1_ENST00000417172.1_Missense_Mutation_p.R106T|CALD1_ENST00000424922.1_Missense_Mutation_p.R100T|CALD1_ENST00000361901.2_Missense_Mutation_p.R106T|CALD1_ENST00000393118.2_Missense_Mutation_p.R100T NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 313 Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CGTGAGGAAAGACGCCAAAAA 0.552000 11 47 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15535182 15535182 + Silent SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr19:15535182T>C ENST00000389282.4 - 9 4821 c.4608A>G c.(4606-4608)gaA>gaG p.E1536E WIZ_ENST00000599910.2_Silent_p.E853E|WIZ_ENST00000599686.3_Silent_p.E720E|WIZ_ENST00000263381.7_Silent_p.E679E|WIZ_ENST00000545156.1_Silent_p.E850E O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1536 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CTTGTCGGCGTTCAAATTCTA 0.612000 12 35 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120809280 120809280 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr8:120809280G>A ENST00000378164.2 - 8 1339 c.1041C>T c.(1039-1041)gcC>gcT p.A347A NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 347 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCAAGGATTGGGCTAAACACC 0.363000 6 44 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9510385 9510385 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr20:9510385C>T ENST00000246070.2 + 6 1253 c.761C>T c.(760-762)gCg>gTg p.A254V LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 254 integral to membrane p.A254V(1) GTAACACTCGCGATTTACCAC 0.547000 20 31 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858613 149858613 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:149858613G>A ENST00000331380.2 + 1 89 c.89G>A c.(88-90)cGa>cAa p.R30Q NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 30 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCGGTAGGGCGAGTGCACCGC 0.672000 17 77 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13891183 13891183 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr5:13891183G>A ENST00000265104.4 - 17 2583 c.2479C>T c.(2479-2481)Cgc>Tgc p.R827C CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 827 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCATCAATGCGGAACTCAATC 0.413000 Kartagener syndrome 9 140 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20072067 20072067 + Missense_Mutation SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:20072067T>C ENST00000294543.6 - 10 1076 c.835A>G c.(835-837)Atc>Gtc p.I279V TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Missense_Mutation_p.I279V NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 279 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GCGATGGTGATGTGCAGCTGC 0.592000 33 96 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25181943 25181943 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:25181943G>A ENST00000409280.1 - 9 1176 c.868C>T c.(868-870)Ccc>Tcc p.P290S C7orf31_ENST00000283905.3_Missense_Mutation_p.P290S Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 290 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 GGGTCCATGGGCCCCAGACCT 0.408000 7 27 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846129 55846129 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:55846129C>T ENST00000322678.1 + 1 132 c.132C>T c.(130-132)atC>atT p.I44I RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I44I(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TGACTATTATCACCCTCACAT 0.423000 16 21 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237919 56237919 + Nonsense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr11:56237919G>A ENST00000312240.2 - 1 95 c.55C>T c.(55-57)Cga>Tga p.R19* NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TGCCATTCTCGACGGCTCGTT 0.403000 5 37 0 0 1 0 0 SPATA31D4 389761 broad.mit.edu 37 9 84547984 84547984 + RNA SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr9:84547984A>G ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA TCTAAGTCTCATAGACGAAGC 0.453000 3 15 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76502866 76502866 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:76502866C>T ENST00000389840.5 - 30 4851 c.4727G>A c.(4726-4728)cGg>cAg p.R1576Q DNAH17_ENST00000585328.1_Missense_Mutation_p.R1577Q dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAAATAGAACCGGGGGAAAGC 0.552000 11 113 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142605142 142605142 + Splice_Site SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chrX:142605142C>T ENST00000370503.2 - 1 161 c.78G>A c.(76-78)gaG>gaA p.E26E NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 26 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) acaATCTTACCTCATCATTTT 0.463000 36 12 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100484750 100484750 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr3:100484750C>A ENST00000471714.1 - 62 4867 c.4758G>T c.(4756-4758)aaG>aaT p.K1586N ABI3BP_ENST00000383691.4_Missense_Mutation_p.K838N|ABI3BP_ENST00000284322.5_Missense_Mutation_p.K884N Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 884 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGGACTTGTTCTTCCCACTGA 0.373000 4 7 1.024e-07 1.0965e-07 1 1 0 C11orf35 256329 broad.mit.edu 37 11 555006 555006 + Missense_Mutation SNP T T G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr11:555006T>G ENST00000329451.3 - 14 1941 c.1879A>C c.(1879-1881)Acc>Ccc p.T627P NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 627 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGTCCGCGGTGACCGGCAGG 0.756000 4 1 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132985 7132985 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:7132985G>A ENST00000005340.5 - 6 951 c.669C>T c.(667-669)tcC>tcT p.S223S DVL2_ENST00000575458.1_Silent_p.S217S|DVL2_ENST00000574642.1_5'UTR NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 223 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 TCTGCTCCGTGGAGCTGCTGA 0.607000 22 56 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130411007 130411007 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chrX:130411007C>T ENST00000370904.1 - 20 3397 c.2487G>A c.(2485-2487)tcG>tcA p.S829S IGSF1_ENST00000370903.3_Silent_p.S843S|IGSF1_ENST00000361420.3_Silent_p.S838S|IGSF1_ENST00000370910.1_Silent_p.S829S|IGSF1_ENST00000467244.1_5'UTR Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 838 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.S838S(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CAATGCCCACCGAAATGATTA 0.493000 60 206 0 0 1 0 0 ARF3 377 broad.mit.edu 37 12 49332745 49332745 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:49332745G>A ENST00000256682.4 - 5 865 c.531C>T c.(529-531)ctC>ctT p.L177L AC073610.5_ENST00000537495.1_Silent_p.L52L|ARF3_ENST00000447318.2_Silent_p.L140L|ARF3_ENST00000541959.1_Silent_p.L177L|RP11-302B13.5_ENST00000398092.4_Intron NM_001659.2 NP_001650.1 P61204 ARF3_HUMAN ADP-ribosylation factor 3 177 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity endometrium(1)|lung(2)|skin(1) 4 TCTTGTTTTTGAGCTGATTGG 0.582000 4 29 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44121325 44121325 + Missense_Mutation SNP C C G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:44121325C>G ENST00000372396.3 + 3 336 c.202C>G c.(202-204)Cct>Gct p.P68A KDM4A_ENST00000463151.1_3'UTR NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 68 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TTTGGTCATTCCTGCCCCCAT 0.468000 14 35 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2141890 2141890 + Missense_Mutation SNP G G T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:2141890G>T ENST00000262304.4 - 41 11637 c.11429C>A c.(11428-11430)tCc>tAc p.S3810Y RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.S3809Y NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3810 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CACGGCACAGGAGCCCCAGGA 0.721000 16 18 1.5739e-10 1.71569e-10 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7681476 7681476 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:7681476G>A ENST00000572933.1 + 34 6789 c.5329G>A c.(5329-5331)Gtc>Atc p.V1777I DNAH2_ENST00000389173.2_Missense_Mutation_p.V1777I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1777 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGGCCGGCTCGTCATCACCCC 0.557000 8 22 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72040576 72040576 + RNA SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:72040576G>A ENST00000343721.5 - 0 1097 TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ATAATGCCCAGTGAGGAGTTC 0.423000 10 39 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149681715 149681715 + Silent SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr5:149681715C>A ENST00000328668.7 - 1 801 c.222G>T c.(220-222)ctG>ctT p.L74L NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 74 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCCTGTCCAGCGTAGGGG 0.617000 5 7 0.00116845 0.00118808 1 1 0 PSPN 5623 broad.mit.edu 37 19 6375860 6375860 + Translation_Start_Site SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr19:6375860T>C ENST00000597721.1 - 1 3209 c.1A>G c.(1-3)Atg>Gtg p.M1V PSPN_ENST00000245810.1_Start_Codon_SNP_p.M1V O60542 PSPN_HUMAN persephin 1 axon guidance|central nervous system development growth factor activity lung(1)|ovary(1)|skin(1) 3 CCTACGGCCATTGTGACGGGC 0.672000 10 24 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 917214 917214 + Missense_Mutation SNP T T A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr5:917214T>A ENST00000166345.3 + 13 1651 c.1295T>A c.(1294-1296)aTc>aAc p.I432N TRIP13_ENST00000510412.1_3'UTR NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 432 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GCAGCTTACATCTGATCCTGG 0.557000 9 54 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117232384 117232384 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:117232384G>A ENST00000003084.6 + 14 2295 c.2163G>A c.(2161-2163)atG>atA p.M721I CFTR_ENST00000454343.1_Missense_Mutation_p.M660I NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 721 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CCTTACAAATGAATGGCATCG 0.433000 Cystic Fibrosis 7 23 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50090120 50090120 + Nonsense_Mutation SNP G G T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr5:50090120G>T ENST00000281631.5 + 11 975 c.817G>T c.(817-819)Gag>Tag p.E273* PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Nonsense_Mutation_p.E252*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.E26*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.E273*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.E273*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.E273* NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 273 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AAAGTTGTCAGAGAAGAAAGT 0.398000 5 21 0.0215528 0.0215528 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44555565 44555565 + Splice_Site SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:44555565C>T ENST00000289547.4 - 19 3770 c.e19-1 NPC1L1_ENST00000546276.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTGCAAACACCTGGGGGGTTC 0.642000 9 15 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13709067 13709067 + Missense_Mutation SNP C C G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr20:13709067C>G ENST00000202816.1 - 11 2103 c.1996G>C c.(1996-1998)Gat>Cat p.D666H NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 666 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TCATTCAAATCAACATCAGAG 0.328000 3 15 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39832814 39832814 + Missense_Mutation SNP A A C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr6:39832814A>C ENST00000538976.1 + 5 574 c.392A>C c.(391-393)gAa>gCa p.E131A DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.E131A|DAAM2_ENST00000398904.2_Missense_Mutation_p.E131A NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 131 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CAAGTCGTGGAAGACCTGAAG 0.562000 OREG0017416 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 8 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72367943 72367943 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:72367943C>T ENST00000335666.4 + 4 641 c.593C>T c.(592-594)gCg>gTg p.A198V NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 198 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 TACCTTCTGGCGCTCACAGCC 0.667000 5 30 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198685816 198685816 + Missense_Mutation SNP G G A rs140403368 byFrequency TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:198685816G>A ENST00000367376.2 + 13 1462 c.1291G>A c.(1291-1293)Gat>Aat p.D431N PTPRC_ENST00000348564.6_Missense_Mutation_p.D272N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D433N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D270N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D383N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 431 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTCAGAAAAAGATTGCCTCAA 0.299000 3 22 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102915967 102915967 + RNA SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:102915967G>A ENST00000312132.4 - 0 812 AAATTAATTCGTTAGAAGAAG 0.453000 4 9 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912486 32912486 + Missense_Mutation SNP C C G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr13:32912486C>G ENST00000544455.1 + 11 4221 c.3994C>G c.(3994-3996)Cat>Gat p.H1332D BRCA2_ENST00000380152.3_Missense_Mutation_p.H1332D NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1332 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAGAAATTCTCATAACTTAGA 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 10 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6935421 6935421 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:6935421G>A ENST00000311268.3 + 4 1905 c.1118G>A c.(1117-1119)gGa>gAa p.G373E GPR162_ENST00000382315.3_Missense_Mutation_p.G69E|GPR162_ENST00000428545.2_Missense_Mutation_p.G89E NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 373 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GATGCTAACGGAGCCACAGGA 0.562000 OREG0021636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 30 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17757895 17757895 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr11:17757895G>A ENST00000379472.3 + 1 376 c.346G>A c.(346-348)Gag>Aag p.E116K KCNC1_ENST00000265969.6_Missense_Mutation_p.E116K NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 116 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CCGCGACGCCGAGGAGGCTCT 0.716000 4 18 0 0 1 0 0 STAR 6770 broad.mit.edu 37 8 38006246 38006246 + Missense_Mutation SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr8:38006246T>C ENST00000276449.4 - 2 537 c.91A>G c.(91-93)Atc>Gtc p.I31V NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein 31 C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TCCTGGCTGATGGCCATCACA 0.612000 28 22 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829005 72829005 + Nonsense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:72829005G>A ENST00000268489.5 - 9 8248 c.7576C>T c.(7576-7578)Cag>Tag p.Q2526* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q1612* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2526 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGGATTAGCTGAGGAGGTAGG 0.582000 15 89 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69323998 69323998 + Missense_Mutation SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr15:69323998G>C ENST00000260364.5 + 5 713 c.412G>C c.(412-414)Gag>Cag p.E138Q NOX5_ENST00000530406.2_Missense_Mutation_p.E128Q|NOX5_ENST00000388866.3_Missense_Mutation_p.E156Q|NOX5_ENST00000448182.3_Missense_Mutation_p.E110Q|NOX5_ENST00000455873.3_Missense_Mutation_p.E121Q Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 156 EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GTGTCTGCGCGAGAGCGCCAT 0.667000 11 16 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44098978 44098978 + Missense_Mutation SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:44098978G>C ENST00000494774.1 + 10 885 c.864G>C c.(862-864)caG>caC p.Q288H DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.Q239H|DBNL_ENST00000452943.1_Missense_Mutation_p.Q263H|DBNL_ENST00000440166.1_Missense_Mutation_p.Q184H|DBNL_ENST00000490734.2_Missense_Mutation_p.Q193H|DBNL_ENST00000448521.1_Missense_Mutation_p.Q287H|DBNL_ENST00000468694.1_Missense_Mutation_p.Q296H NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 287 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 CCTTCCTGCAGAAGCAGCTCA 0.597000 11 42 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103268775 103268775 + Silent SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr13:103268775T>C ENST00000376052.3 + 4 436 c.420T>C c.(418-420)ccT>ccC p.P140P TPP2_ENST00000376065.4_Silent_p.P140P P29144 TPP2_HUMAN tripeptidyl peptidase II 140 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTGGGACCCTGTTCACAGAG 0.408000 16 31 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66356136 66356136 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr4:66356136G>A ENST00000273854.3 - 5 1961 c.1361C>T c.(1360-1362)gCc>gTc p.A454V EPHA5_ENST00000511294.1_Missense_Mutation_p.A454V|EPHA5_ENST00000354839.4_Missense_Mutation_p.A454V|EPHA5_ENST00000432638.2_Intron NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 454 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.A454D(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATACTGCCGGGCTCCTGGGCT 0.463000 TSP Lung(17;0.13) 26 37 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729877 237729877 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:237729877C>T ENST00000366574.2 + 28 3542 c.3225C>T c.(3223-3225)gcC>gcT p.A1075A RYR2_ENST00000360064.6_Silent_p.A1073A|RYR2_ENST00000542537.1_Silent_p.A1059A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1075 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCCAGAGCCGAAGTGTGCA 0.483000 12 18 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73967273 73967273 + Missense_Mutation SNP A A C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr14:73967273A>C ENST00000553558.1 - 12 2588 c.2267T>G c.(2266-2268)cTg>cGg p.L756R HEATR4_ENST00000334988.2_Missense_Mutation_p.L756R|HEATR4_ENST00000560393.1_Missense_Mutation_p.L709R NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) GCGGATCTGCAGGGCACCAGC 0.532000 7 52 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139748775 139748775 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr9:139748775C>T ENST00000445819.1 + 7 833 c.783C>T c.(781-783)aaC>aaT p.N261N MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.N261N Q6UXC1 AEGP_HUMAN MAM domain containing 4 261 LDL-receptor class A 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTGATGAGAACCCACTCACCT 0.667000 3 13 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89479549 89479549 + Silent SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr6:89479549A>G ENST00000369485.4 - 13 1569 c.1383T>C c.(1381-1383)ccT>ccC p.P461P RNGTT_ENST00000538899.1_Silent_p.P378P|RNGTT_ENST00000265607.6_Silent_p.P438P|RNGTT_ENST00000369475.3_Silent_p.P461P NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 461 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TCAGACTGGGAGGCTTCCATT 0.323000 3 14 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171632 153171632 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chrX:153171632C>T ENST00000358927.2 + 3 881 c.672C>T c.(670-672)tgC>tgT p.C224C AVPR2_ENST00000337474.5_Silent_p.C224C|AVPR2_ENST00000370049.1_Silent_p.C224C P30518 V2R_HUMAN arginine vasopressin receptor 2 224 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TCGCCGCCTGCCAGGTGCTCA 0.677000 73 11 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39570477 39570477 + Missense_Mutation SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr18:39570477A>G ENST00000262039.4 + 6 759 c.673A>G c.(673-675)Aag>Gag p.K225E PIK3C3_ENST00000398870.3_Missense_Mutation_p.K162E NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 225 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TCGATGTGTCAAGTGTGATGA 0.299000 TSP Lung(28;0.18) 6 13 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104147103 104147103 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:104147103C>T ENST00000388887.2 + 61 6890 c.6686C>T c.(6685-6687)aCc>aTc p.T2229I RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2229 Link. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACCATGGCAACCTACAACCAG 0.547000 13 32 0 0 1 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647259 33647259 + Missense_Mutation SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:33647259T>C ENST00000558425.1 - 2 340 c.341A>G c.(340-342)tAc>tGc p.Y114C TTTCACACAGTAATACACAGC 0.557000 52 159 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102799279 102799279 + Silent SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr10:102799279G>C ENST00000393459.1 + 12 1376 c.903G>C c.(901-903)ctG>ctC p.L301L SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Silent_p.L305L Q9BWM7 SFXN3_HUMAN sideroflexin 3 305 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AACCAGAGCTGAGAGCTCAGA 0.547000 34 70 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324258 152324258 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr1:152324258C>T ENST00000388718.5 - 3 6076 c.6004G>A c.(6004-6006)Gca>Aca p.A2002T FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2002 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGTATCTGCTGTTTGTCCA 0.512000 65 261 0 0 1 0 0 TRIM74 378108 broad.mit.edu 37 7 72430563 72430563 + Missense_Mutation SNP C C G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:72430563C>G ENST00000285805.3 - 4 914 c.715G>C c.(715-717)Gag>Cag p.E239Q TRIM74_ENST00000395244.1_Missense_Mutation_p.E239Q NM_198853.1 NP_942150.1 Q86UV6 TRI74_HUMAN tripartite motif containing 74 239 intracellular zinc ion binding prostate(1) 1 CAGATGAACTCATGGTGGTCC 0.632000 15 64 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425800 49425800 + Nonsense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr12:49425800G>A ENST00000301067.7 - 39 12687 c.12688C>T c.(12688-12690)Cag>Tag p.Q4230* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGCTGCAGCTGCCGCTGCATG 0.632000 17 15 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97851743 97851743 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:97851743C>T ENST00000447648.2 - 22 3318 c.3019G>A c.(3019-3021)Ggc>Agc p.G1007S TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.G1009S Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 1007 integral to membrane protein binding p.G1008S(1) central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAGGCGGAGCCGTCCCTTGCC 0.682000 4 13 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175174 112175174 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr5:112175174G>A ENST00000457016.1 + 16 4263 c.3883G>A c.(3883-3885)Gaa>Aaa p.E1295K CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1295K|APC_ENST00000508376.2_Missense_Mutation_p.E1295K P25054 APC_HUMAN adenomatous polyposis coli 1295 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1295*(4)|p.T1293fs*2(1)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GACGACACAGGAAGCAGATTC 0.378000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 7 15 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17079788 17079788 + Missense_Mutation SNP A A G TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:17079788A>G ENST00000395811.5 + 20 2847 c.2758A>G c.(2758-2760)Att>Gtt p.I920V RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.I920V|MPRIP_ENST00000395804.3_Missense_Mutation_p.I920V|MPRIP_ENST00000444976.1_Missense_Mutation_p.I882V NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 920 cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GAAACAGGAGATTAGCTCCCT 0.532000 20 56 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83945958 83945958 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:83945958G>A ENST00000262430.4 + 4 953 c.934G>A c.(934-936)Gtc>Atc p.V312I RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.V82I|RP11-505K9.4_ENST00000561562.1_3'UTR NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 312 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity p.V312>?(1) NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 AAAGCGAGTCGTCAAGGAGTT 0.562000 15 40 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171614993 171614993 + Silent SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr5:171614993T>C ENST00000176763.5 - 1 397 c.54A>G c.(52-54)agA>agG p.R18R NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 18 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCGGGACTTTCTCTTCTCGA 0.677000 8 26 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107824215 107824215 + Silent SNP T T C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chrX:107824215T>C ENST00000328300.6 + 16 1138 c.894T>C c.(892-894)ggT>ggC p.G298G COL4A5_ENST00000361603.2_Silent_p.G298G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 298 Triple-helical region. G -> S (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCTATAGGGTAAACCAGGCA 0.378000 Alport syndrome with Diffuse Leiomyomatosis 30 10 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30325880 30325880 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:30325880C>T ENST00000322652.5 + 16 2307 c.2078C>T c.(2077-2079)tCt>tTt p.S693F SUZ12_ENST00000580398.1_Missense_Mutation_p.S670F NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 693 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) AAGGGGGAATCTGCTTCCCCT 0.363000 T JAZF1 endometrial stromal tumours 8 14 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768575 88768575 + RNA SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr10:88768575C>T ENST00000444431.1 + 0 3175 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_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 CTAGCCACATCGGCCTGCGCA 0.478000 35 72 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97088047 97088047 + Silent SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr9:97088047G>C ENST00000335456.7 - 2 206 c.186C>G c.(184-186)acC>acG p.T62T NUTM2F_ENST00000341207.4_Silent_p.T62T|NUTM2F_ENST00000253262.4_Silent_p.T62T NUT family member 2F CCACTAGAGGGGTGCTGGGGA 0.682000 22 14 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2953006 2953006 + Silent SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:2953006G>A ENST00000396946.4 - 22 3337 c.2934C>T c.(2932-2934)ctC>ctT p.L978L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 978 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGGGTGTGAAGAGCACGGGCC 0.647000 Mis DLBCL 18 84 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569369 11569369 + Missense_Mutation SNP C C A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr19:11569369C>A ENST00000359227.3 - 4 815 c.391G>T c.(391-393)Ggg>Tgg p.G131W ELAVL3_ENST00000438662.2_Missense_Mutation_p.G131W NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 131 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 TTGGGGAGCCCGCTGACGTAC 0.602000 23 56 1.10513e-12 1.21565e-12 1 1 0 DOCK5 80005 broad.mit.edu 37 8 25181401 25181401 + Silent SNP C C T rs146969490 byFrequency TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr8:25181401C>T ENST00000276440.7 + 17 1697 c.1653C>T c.(1651-1653)ttC>ttT p.F551F NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 551 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GGGTGGCCTTCGTGAAGCTGA 0.512000 4 4 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107822277 107822277 + Nonsense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:107822277G>A ENST00000379028.3 - 24 3105 c.2635C>T c.(2635-2637)Caa>Taa p.Q879* NRCAM_ENST00000425651.2_Nonsense_Mutation_p.Q879*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.Q863*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.Q879*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.Q860*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.Q860* Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 879 Fibronectin type-III 3. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CGATAGCCTTGTAGGTGTCCT 0.527000 8 7 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123150002 123150002 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:123150002G>A ENST00000466202.1 - 3 1061 c.485C>T c.(484-486)tCa>tTa p.S162L IQUB_ENST00000324698.6_Missense_Mutation_p.S162L|IQUB_ENST00000434450.1_Missense_Mutation_p.S162L|IQUB_ENST00000488987.1_Intron NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 162 Ubiquitin-like. breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TAATAAGTGTGAAAAATGGTC 0.313000 24 92 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33591589 33591589 + Missense_Mutation SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:33591589C>T ENST00000299977.4 + 4 1674 c.1526C>T c.(1525-1527)tCg>tTg p.S509L SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 509 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GTTTACAGTTCGTATTTACAA 0.473000 20 40 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2140903 2140903 + Silent SNP G G C TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr16:2140903G>C ENST00000262304.4 - 43 12193 c.11985C>G c.(11983-11985)ctC>ctG p.L3995L PKD1_ENST00000423118.1_Silent_p.L3994L NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3995 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAAGCAGGAAGAGCAGCGAGG 0.706000 8 24 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119721 3119721 + Silent SNP C C T TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:3119721C>T ENST00000304094.1 + 1 807 c.807C>T c.(805-807)gaC>gaT p.D269D NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 GCCTAAAAGACGCAGTGATCA 0.478000 13 46 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347218 71347218 + Missense_Mutation SNP G G A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr4:71347218G>A ENST00000413702.1 + 4 1045 c.757G>A c.(757-759)Gct>Act p.A253T MUC7_ENST00000456088.1_Missense_Mutation_p.A253T|MUC7_ENST00000304887.5_Missense_Mutation_p.A253T NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 253 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ATCTTCCTCAGCTCCACCAGA 0.592000 51 180 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107041335 107041337 + In_Frame_Del DEL TCT TCT - TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr2:107041335_107041337delTCT ENST00000409886.3 - 20 3173_3175 c.3086_3088delAGA c.(3085-3090)aagact>act p.K1029del RGPD3_ENST00000304514.7_In_Frame_Del_p.K1029del NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1029 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTGTCCTCAGTCTTATAGGCATC 0.379 13 67 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 152008976 152008979 + Frame_Shift_Del DEL CTGT CTGT - TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr7:152008976_152008979delCTGT ENST00000355193.2 - 5 861_864 c.643_646delACAG c.(643-648)acagctfs p.TA215fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TA215fs lysine (K)-specific methyltransferase 2C TCATCTGAAGCTGTCTGGGTGCTT 0.392 20 54 --- --- --- --- KIAA1432 57589 broad.mit.edu 37 9 5774103 5774104 + Frame_Shift_Ins INS - - GC TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr9:5774103_5774104insGC ENST00000414202.2 + 26 4320_4321 c.4129_4130insGC c.(4129-4131)agcfs p.S1377fs KIAA1432_ENST00000418622.3_Frame_Shift_Ins_p.S1298fs|KIAA1432_ENST00000449720.2_Frame_Shift_Ins_p.S1261fs NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1377 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GGCAGAGGAGAGCAGGGGCTCC 0.559 34 31 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579849 7579849 + Frame_Shift_Del DEL G G - TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr17:7579849delG ENST00000420246.2 - 2 196 c.64delC c.(64-66)ctafs p.L22fs TP53_ENST00000269305.4_Frame_Shift_Del_p.L22fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L22fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L22fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L22fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L22fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 22 Interaction with HRMT1L2.|Transcription activation (acidic). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.P13fs*18(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) AGTTTCCATAGGTCTGAAAAT 0.592 111 """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) 11 15 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22805859 22805860 + Frame_Shift_Ins INS - - A TCGA-HQ-A5ND-01A-11D-A26M-08 TCGA-HQ-A5ND-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eba0abbc-a672-4dad-a27c-c5e397fa2438 806fbef0-8f13-4abe-92cb-ba4cbf3e88c8 g.chr18:22805859_22805860insA ENST00000361524.3 - 4 2170_2171 c.2022_2023insT c.(2020-2025)cccaacfs p.N675fs ZNF521_ENST00000538137.2_Frame_Shift_Ins_p.N675fs|ZNF521_ENST00000584787.1_Frame_Shift_Ins_p.N455fs NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 675 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GATTCTTGGTTGGGGAATTCCT 0.421 T PAX5 ALL 23 104 --- --- --- ---