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 CEBPZ 10153 broad.mit.edu 37 2 37430153 37430153 + Splice_Site SNP T T A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:37430153T>A ENST00000234170.5 - 14 3030 c.e14-2 AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_3'UTR NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding p.?(1) breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTCTTGGCCCTAAAAAAAATT 0.269000 3 47 0 0 0.150653 0 0 TOP1 7150 broad.mit.edu 37 20 39725971 39725971 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr20:39725971A>G ENST00000361337.2 + 10 1092 c.842A>G c.(841-843)gAc>gGc p.D281G NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 281 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding p.D281G(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TTCTTTAAAGACTGGAGAAAG 0.348000 T NUP98 AML* 7 97 0 0 0.278610 0 0 KRIT1 889 broad.mit.edu 37 7 91870326 91870326 + Silent SNP A A T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr7:91870326A>T ENST00000394507.1 - 6 1026 c.243T>A c.(241-243)ccT>ccA p.P81P KRIT1_ENST00000394505.2_Silent_p.P81P|KRIT1_ENST00000394503.2_Silent_p.P81P|KRIT1_ENST00000412043.2_Silent_p.P81P|KRIT1_ENST00000340022.2_Silent_p.P81P NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 81 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity p.P81P(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCTGGTTTGCAGGAGAAATTG 0.313000 22 65 0 0 0.639603 0 0 RLF 6018 broad.mit.edu 37 1 40703541 40703541 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:40703541C>G ENST00000372771.4 + 8 3194 c.3167C>G c.(3166-3168)aCa>aGa p.T1056R NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1056 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.T1056R(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGGCCCTGTACAGAGGATACC 0.398000 7 70 0 0 0.278610 0 0 ZNF678 339500 broad.mit.edu 37 1 227843479 227843479 + Missense_Mutation SNP A A C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:227843479A>C ENST00000343776.4 + 4 1873 c.1528A>C c.(1528-1530)Att>Ctt p.I510L ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.I565L F5GXA7 F5GXA7_HUMAN zinc finger protein 678 565 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.I565L(1)|p.I510L(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) GTATAAGAGAATTTATACTGG 0.323000 6 41 0 0 0.278610 0 0 VBP1 7411 broad.mit.edu 37 X 154456758 154456758 + Missense_Mutation SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:154456758G>T ENST00000286428.5 + 4 495 c.378G>T c.(376-378)tgG>tgT p.W126C VBP1_ENST00000535916.1_Missense_Mutation_p.W121C NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 126 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding p.W126C(1) NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTGTCTGTGGTTGGGGGTAA 0.398000 11 155 6.40141e-05 7.3159e-05 0.387290 1 0 RIOK2 55781 broad.mit.edu 37 5 96503577 96503577 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:96503577C>T ENST00000283109.3 - 8 1059 c.991G>A c.(991-993)Gga>Aga p.G331R CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.G331R NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 331 Protein kinase. ATP binding|protein serine/threonine kinase activity p.G331R(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) AATTCAGATCCCTCTTTTGTT 0.418000 12 250 0 0 0.435327 0 0 MLLT4 4301 broad.mit.edu 37 6 168299086 168299086 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr6:168299086G>A ENST00000366806.2 + 11 1661 c.1519G>A c.(1519-1521)Gct>Act p.A507T MLLT4_ENST00000392108.3_Missense_Mutation_p.A507T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A491T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A506T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A507T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A507T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A507T P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 507 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding p.A491T(1)|p.A507T(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TCAGGATCATGCTCTTGCAAA 0.453000 T MLL AL 5 33 0 0 0.248553 0 0 MAST4 375449 broad.mit.edu 37 5 66400349 66400349 + Silent SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:66400349C>T ENST00000404260.3 + 10 1619 c.1311C>T c.(1309-1311)atC>atT p.I437I MAST4_ENST00000490016.2_Silent_p.I245I|MAST4_ENST00000405643.1_Silent_p.I255I|MAST4_ENST00000403625.2_Silent_p.I434I|MAST4_ENST00000261569.7_Silent_p.I240I|MAST4_ENST00000403666.1_Silent_p.I245I O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 437 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.I437I(1) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGGGCCTCATCACCTCACGAT 0.413000 4 36 0 0 0.184627 0 0 NGFR 4804 broad.mit.edu 37 17 47587854 47587854 + Missense_Mutation SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr17:47587854G>T ENST00000172229.3 + 4 774 c.649G>T c.(649-651)Gca>Tca p.A217S RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A123S NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 217 Ser/Thr-rich. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm p.A217S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GGAGCCTGAGGCACCTCCAGA 0.642000 5 43 0.00116845 0.00129428 0.217242 1 0 CD2BP2 10421 broad.mit.edu 37 16 30365563 30365563 + Missense_Mutation SNP C C A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr16:30365563C>A ENST00000305596.3 - 3 334 c.159G>T c.(157-159)gaG>gaT p.E53D CD2BP2_ENST00000569466.1_Missense_Mutation_p.E53D NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 53 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding p.E53D(2) breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CATCATCATCCTCCTCCTCAT 0.517000 41 205 6.2361e-21 7.36065e-21 0.834066 1 0 NLRC4 58484 broad.mit.edu 37 2 32475459 32475459 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:32475459G>A ENST00000404025.2 - 5 1962 c.1474C>T c.(1474-1476)Cgg>Tgg p.R492W NLRC4_ENST00000402280.1_Missense_Mutation_p.R492W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R492W Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 492 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.R492W(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGGTGTACCGGAGCAGGCTG 0.517000 4 44 0 0 0.150653 0 0 CASC5 57082 broad.mit.edu 37 15 40913729 40913729 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr15:40913729C>G ENST00000346991.5 + 11 1735 c.1345C>G c.(1345-1347)Caa>Gaa p.Q449E CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.Q423E Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 449 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding p.Q449E(2) NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TCCATCTATTCAAGGTTGTAA 0.363000 10 153 0 0 0.361761 0 0 DCAF12 25853 broad.mit.edu 37 9 34093435 34093435 + Silent SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr9:34093435G>T ENST00000361264.4 - 7 1214 c.873C>A c.(871-873)acC>acA p.T291T RP11-537H15.3_ENST00000448245.1_RNA NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 291 centrosome|CUL4 RING ubiquitin ligase complex p.T291T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 ATGGCAGTTTGGTGGAGAGGA 0.493000 3 37 0.115264 0.120275 0.115264 1 0 DENND5B 160518 broad.mit.edu 37 12 31566417 31566417 + Silent SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:31566417G>T ENST00000389082.5 - 13 2898 c.2634C>A c.(2632-2634)ctC>ctA p.L878L DENND5B_ENST00000306833.6_Silent_p.L913L|DENND5B_ENST00000536562.1_Silent_p.L913L NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 878 RUN 1. integral to membrane p.L878L(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GCTGGGACAAGAGCTTCTTTT 0.403000 6 67 0.00198382 0.00213186 0.248553 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64748738 64748738 + Silent SNP T T G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:64748738T>G ENST00000536360.1 - 5 1452 c.639A>C c.(637-639)acA>acC p.T213T Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 213 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T213T(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TGCCACTTCTTGTGAAATCTA 0.348000 6 105 0 0 0.248553 0 0 TESK1 7016 broad.mit.edu 37 9 35608495 35608495 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr9:35608495C>T ENST00000336395.5 + 9 1239 c.989C>T c.(988-990)aCa>aTa p.T330I TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 330 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T330I(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACCGCCCTGACACACAATCAG 0.572000 4 13 0 0 0.217242 0 0 ZMYM6 9204 broad.mit.edu 37 1 35476084 35476084 + Nonsense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:35476084G>A ENST00000357182.4 - 10 1683 c.1456C>T c.(1456-1458)Cga>Tga p.R486* ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.R486*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.R486* NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 486 multicellular organismal development nucleus DNA binding|zinc ion binding p.R486*(1) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) CCTGAGAATCGCACAGTCTCC 0.373000 7 126 0 0 0.278610 0 0 PODN 127435 broad.mit.edu 37 1 53543418 53543418 + Missense_Mutation SNP T T A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:53543418T>A ENST00000371500.3 + 9 1228 c.887T>A c.(886-888)cTa>cAa p.L296Q PODN_ENST00000312553.5_Missense_Mutation_p.L315Q|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.L173Q NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 267 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CTGCGCGAGCTATACCTGCAG 0.617000 11 146 0 0 0.411799 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345409 38345409 + Missense_Mutation SNP A A G rs71491230 byFrequency TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:38345409A>G ENST00000374618.3 + 5 2535 c.2357A>G c.(2356-2358)cAg>cGg p.Q786R ZNF33A_ENST00000458705.2_Missense_Mutation_p.Q785R|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q792R|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q785R NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 785 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q785R(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 AGAAATTTCCAGCCACAAGTC 0.383000 4 75 0 0 0.150653 0 0 FILIP1 27145 broad.mit.edu 37 6 76023514 76023514 + Silent SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr6:76023514A>G ENST00000393004.2 - 5 2255 c.2034T>C c.(2032-2034)tcT>tcC p.S678S FILIP1_ENST00000370020.1_Silent_p.S579S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.S678S Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 678 p.S678S(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTAGTTGTTGAGAGAGGAAGT 0.433000 16 248 0 0 0.479597 0 0 FAM71B 153745 broad.mit.edu 37 5 156589943 156589943 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:156589943G>A ENST00000302938.4 - 2 1428 c.1333C>T c.(1333-1335)Cat>Tat p.H445Y NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 445 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGCGGTGATGAGAACTTTTC 0.502000 7 153 0 0 0.307466 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004327 75004327 + Missense_Mutation SNP A A C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:75004327A>C ENST00000373359.2 - 1 752 c.560T>G c.(559-561)aTc>aGc p.I187S NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 187 MAGE 1. p.I187S(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATTCAAGAGGATGTGGCCTAG 0.502000 5 41 0 0 0.184627 0 0 RELL2 285613 broad.mit.edu 37 5 141018407 141018407 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:141018407G>C ENST00000297164.3 + 2 1430 c.230G>C c.(229-231)cGc>cCc p.R77P RELL2_ENST00000518856.1_Missense_Mutation_p.R11P|RELL2_ENST00000521367.1_Missense_Mutation_p.R11P|RELL2_ENST00000444782.1_Missense_Mutation_p.R77P|RELL2_ENST00000518025.1_3'UTR NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 77 integral to membrane|plasma membrane p.R77P(1) large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGATTGTTCGCTGCATCATC 0.507000 4 85 0 0 0.184627 0 0 IGLV1-44 28823 broad.mit.edu 37 22 22735488 22735488 + RNA SNP C C A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr22:22735488C>A ENST00000390297.2 + 0 239 ATCTCTTGTTCTGGAAGCAGC 0.567000 9 94 0.00448238 0.00474605 0.307466 1 0 SFTPA2 729238 broad.mit.edu 37 10 81319085 81319085 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:81319085C>T ENST00000372325.2 - 3 239 c.155G>A c.(154-156)gGa>gAa p.G52E SFTPA2_ENST00000372327.5_Missense_Mutation_p.G52E NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 52 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding p.G52E(1) endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GCCAGGGTCTCCTTTGACACC 0.632000 Pulmonary Fibrosis, Idiopathic 5 77 0 0 0.217242 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354181 17354181 + RNA SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:17354181A>G ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA CAGTTTGTGCAGTTCCAGTAG 0.448000 14 101 0 0 0.479597 0 0 ZBTB3 79842 broad.mit.edu 37 11 62519814 62519814 + Silent SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:62519814G>A ENST00000394807.3 - 2 1598 c.1473C>T c.(1471-1473)gcC>gcT p.A491A NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A491A(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TGTGCACCGTGGCATGTCGCC 0.567000 4 34 0 0 0.184627 0 0 OR6C68 403284 broad.mit.edu 37 12 55886450 55886450 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:55886450A>G ENST00000379662.1 + 1 304 c.304A>G c.(304-306)Att>Gtt p.I102V RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.I97V|RP11-110A12.2_ENST00000554049.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I102V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TGCATGTGTCATTCAGCTATT 0.358000 7 146 0 0 0.278610 0 0 ZNF347 84671 broad.mit.edu 37 19 53644080 53644080 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:53644080G>C ENST00000452676.2 - 5 2430 c.2004C>G c.(2002-2004)caC>caG p.H668Q ZNF347_ENST00000601469.2_Missense_Mutation_p.H668Q|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.H667Q NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H667Q(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTCTTGCAAGGTGTGAATTCT 0.413000 17 140 0 0 0.557998 0 0 ZNF229 7772 broad.mit.edu 37 19 44933924 44933924 + Silent SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:44933924C>G ENST00000291187.4 - 6 1336 c.1014G>C c.(1012-1014)gtG>gtC p.V338V CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.V344V NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V344V(1) breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GCATGTCTCCCACAGGGGCTC 0.498000 6 82 0 0 0.217242 0 0 ZNF623 9831 broad.mit.edu 37 8 144733396 144733396 + Missense_Mutation SNP A A T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr8:144733396A>T ENST00000501748.2 + 1 1443 c.1354A>T c.(1354-1356)Att>Ttt p.I452F ZNF623_ENST00000526926.1_Missense_Mutation_p.I412F|ZNF623_ENST00000458270.2_Missense_Mutation_p.I412F NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I452F(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCACCAGATTATTCACACTGG 0.463000 5 86 0 0 0.184627 0 0 ZNF766 90321 broad.mit.edu 37 19 52794138 52794138 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:52794138G>A ENST00000439461.1 + 4 1137 c.1094G>A c.(1093-1095)aGg>aAg p.R365K ZNF766_ENST00000593612.1_Missense_Mutation_p.R380K|ZNF766_ENST00000359102.4_Missense_Mutation_p.R380K|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R365K(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) AAAGCTTTTAGGCACAAGTTC 0.393000 5 21 0 0 0.184627 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546833 37546833 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr20:37546833G>A ENST00000299824.1 + 11 1417 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E368K NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 410 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding p.E410K(2) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GCTACTCTCCGAATTTCCTAC 0.567000 12 148 0 0 0.457914 0 0 RBMS2 5939 broad.mit.edu 37 12 56975221 56975221 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:56975221G>A ENST00000262031.5 + 7 756 c.661G>A c.(661-663)Ggg>Agg p.G221R RBMS2_ENST00000542360.1_Missense_Mutation_p.G76R|RBMS2_ENST00000550726.1_Missense_Mutation_p.G96R|RBMS2_ENST00000552247.2_Missense_Mutation_p.G221R NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 221 RNA processing nucleus nucleotide binding|RNA binding p.G221R(1) breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 TGCTGATGGCGGGCCAAAGAA 0.537000 3 32 0 0 0.115264 0 0 IQCB1 9657 broad.mit.edu 37 3 121544968 121544968 + Missense_Mutation SNP A A C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr3:121544968A>C ENST00000310864.6 - 5 537 c.323T>G c.(322-324)cTt>cGt p.L108R IQCB1_ENST00000349820.6_Missense_Mutation_p.L108R NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 108 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding p.L108R(1) NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) AGCTGATGGAAGTAATTCATT 0.363000 14 27 0 0 0.435327 0 0 TRMT2B 79979 broad.mit.edu 37 X 100274014 100274014 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:100274014G>A ENST00000338687.7 - 12 2004 c.1199C>T c.(1198-1200)aCg>aTg p.T400M TRMT2B_ENST00000545398.1_Missense_Mutation_p.T445M|TRMT2B_ENST00000372935.1_Missense_Mutation_p.T445M|TRMT2B_ENST00000372931.5_Missense_Mutation_p.T445M|TRMT2B_ENST00000372936.3_Missense_Mutation_p.T445M|TRMT2B_ENST00000372939.1_Missense_Mutation_p.T400M Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 445 tRNA (uracil-5-)-methyltransferase activity p.T445M(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 AAAAACTAGCGTGTGGATGGC 0.373000 7 136 0 0 0.307466 0 0 FOXB2 442425 broad.mit.edu 37 9 79634826 79634826 + Missense_Mutation SNP T T C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr9:79634826T>C ENST00000376708.1 + 1 256 c.256T>C c.(256-258)Ttc>Ctc p.F86L NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 86 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.F86L(3) breast(1)|lung(8)|ovary(1) 10 CAAGGGTAGCTTCTGGGCGCT 0.632000 3 24 0 0 0.150653 0 0 ATG13 9776 broad.mit.edu 37 11 46686502 46686502 + Missense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:46686502C>T ENST00000434074.1 + 11 1582 c.893C>T c.(892-894)cCt>cTt p.P298L ATG13_ENST00000359513.4_Missense_Mutation_p.P298L|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000529655.1_Intron|ATG13_ENST00000528494.1_Missense_Mutation_p.P331L|ATG13_ENST00000526508.1_Missense_Mutation_p.P298L|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000312040.4_Missense_Mutation_p.P298L|ATG13_ENST00000451945.1_Intron NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 298 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.P331L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 GCTACACACCCTCACCAGGTA 0.542000 8 153 0 0 0.278610 0 0 STK36 27148 broad.mit.edu 37 2 219563892 219563892 + Missense_Mutation SNP C C T rs142956585 TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:219563892C>T ENST00000295709.3 + 26 3904 c.3625C>T c.(3625-3627)Cgg>Tgg p.R1209W STK36_ENST00000440309.1_Missense_Mutation_p.R1209W|STK36_ENST00000392105.3_Missense_Mutation_p.R1188W|STK36_ENST00000392106.2_Missense_Mutation_p.R1188W NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1209 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.R1209W(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGCTGGTATCCGGCGCAATGT 0.592000 4 38 0 0 0.150653 0 0 GIGYF1 64599 broad.mit.edu 37 7 100284038 100284038 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr7:100284038G>C ENST00000275732.5 - 8 1922 c.713C>G c.(712-714)gCt>gGt p.A238G GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 238 p.A238G(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCGCCAGCCAGCAGAGCGGGG 0.637000 3 38 0 0 0.115264 0 0 THAP6 152815 broad.mit.edu 37 4 76442122 76442122 + Missense_Mutation SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr4:76442122G>C ENST00000311638.3 + 3 289 c.221G>C c.(220-222)aGt>aCt p.S74T THAP6_ENST00000508105.1_Missense_Mutation_p.S33T|THAP6_ENST00000504190.1_Missense_Mutation_p.S33T|THAP6_ENST00000502620.1_Missense_Mutation_p.S33T|THAP6_ENST00000514480.1_Missense_Mutation_p.S74T|THAP6_ENST00000507556.1_Missense_Mutation_p.S74T|THAP6_ENST00000507557.1_Missense_Mutation_p.S33T|THAP6_ENST00000380837.3_Missense_Mutation_p.S74T|THAP6_ENST00000507885.1_Missense_Mutation_p.S33T NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 74 microtubule cytoskeleton DNA binding|metal ion binding p.S74T(1) lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTTGACAGAAGTGCTCCAAAT 0.393000 5 73 0 0 0.184627 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876105 74876105 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr14:74876105C>G ENST00000331628.3 - 2 590 c.343G>C c.(343-345)Gtc>Ctc p.V115L SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.V115L NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 115 response to biotic stimulus Golgi apparatus|integral to membrane p.V115L(1) breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 TGGATGGTGACATTCTCTGCA 0.597000 16 114 0 0 0.479597 0 0 GUSBP1 728411 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 3 23 0 0 0.184627 0 0 ADCY8 114 broad.mit.edu 37 8 132052081 132052081 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr8:132052081C>G ENST00000286355.5 - 1 2591 c.499G>C c.(499-501)Gaa>Caa p.E167Q ADCY8_ENST00000377928.3_Missense_Mutation_p.E167Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 167 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.E167Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TAGAGGCGTTCCAAATCCCGA 0.527000 HNSCC(32;0.087) 13 91 0 0 0.479597 0 0 PSTK 118672 broad.mit.edu 37 10 124742438 124742438 + Missense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:124742438C>G ENST00000405485.1 + 2 472 c.406C>G c.(406-408)Ctc>Gtc p.L136V PSTK_ENST00000368887.3_Missense_Mutation_p.L136V|PSTK_ENST00000497219.1_3'UTR Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 136 ATP binding|kinase activity p.L136V(1) endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GTCTTGCTACCTCTTAACAAA 0.403000 13 123 0 0 0.500413 0 0 OR51B5 282763 broad.mit.edu 37 11 5363849 5363849 + Silent SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:5363849A>G ENST00000300773.2 - 1 960 c.906T>C c.(904-906)ctT>ctC p.L302L HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L302L(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAAAAGGTGAAGAATGGCAT 0.378000 8 75 0 0 0.278610 0 0 TEX26 122046 broad.mit.edu 37 13 31540436 31540436 + Nonsense_Mutation SNP C C T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr13:31540436C>T ENST00000380473.3 + 5 560 c.547C>T c.(547-549)Cga>Tga p.R183* TEX26_ENST00000530916.1_Intron NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 183 p.R183*(2) CACTGAATTCCGAAGGAATTA 0.423000 7 54 0 0 0.248553 0 0 DLGAP1 9229 broad.mit.edu 37 18 3567562 3567562 + Missense_Mutation SNP T T A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr18:3567562T>A ENST00000315677.3 - 9 2578 c.1983A>T c.(1981-1983)gaA>gaT p.E661D DLGAP1_ENST00000400149.3_Missense_Mutation_p.E351D|DLGAP1_ENST00000400150.3_Missense_Mutation_p.E377D|DLGAP1_ENST00000400145.2_Missense_Mutation_p.E359D|DLGAP1_ENST00000400155.1_Missense_Mutation_p.E367D|DLGAP1_ENST00000539435.1_Missense_Mutation_p.E369D|DLGAP1_ENST00000400147.2_Missense_Mutation_p.E359D|DLGAP1_ENST00000581699.1_Missense_Mutation_p.E367D|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E661D|DLGAP1_ENST00000581527.1_Missense_Mutation_p.E661D|DLGAP1_ENST00000534970.1_Missense_Mutation_p.E345D|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E661D NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 661 Interaction with DYL2 (By similarity). synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.E369D(1)|p.E661D(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TTTTGTCAGGTTCTTCAGCAT 0.403000 10 94 0 0 0.387290 0 0 SNTG2 54221 broad.mit.edu 37 2 1263181 1263181 + Missense_Mutation SNP C C T rs145354756 by1000genomes TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr2:1263181C>T ENST00000308624.5 + 13 1174 c.1045C>T c.(1045-1047)Cac>Tac p.H349Y SNTG2_ENST00000407292.1_Missense_Mutation_p.H222Y NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 349 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.H349Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAGGACCTATCACCTCTGTGA 0.413000 4 72 0 0 0.150653 0 0 TNNT2 7139 broad.mit.edu 37 1 201333427 201333427 + Splice_Site SNP G G C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:201333427G>C ENST00000509001.1 - 10 744 c.459_splice c.e10+1 p.A153_splice TNNT2_ENST00000458432.2_Splice_Site_p.A165_splice|TNNT2_ENST00000421663.2_Splice_Site_p.A155_splice|TNNT2_ENST00000367317.4_Splice_Site_p.A153_splice|TNNT2_ENST00000367315.2_Splice_Site_p.A153_splice|TNNT2_ENST00000367318.5_Splice_Site_p.A153_splice|TNNT2_ENST00000367320.2_Splice_Site_p.A123_splice|TNNT2_ENST00000367322.1_Splice_Site_p.A153_splice|TNNT2_ENST00000360372.4_Splice_Site_p.A148_splice|TNNT2_ENST00000236918.7_Splice_Site_p.A158_splice NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 163 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding p.A153G(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GTCACTCACAGCCAGGCGGTT 0.637000 2 7 0 0 0.115264 0 0 NTN4 59277 broad.mit.edu 37 12 96059736 96059736 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr12:96059736A>G ENST00000343702.4 - 9 2048 c.1600T>C c.(1600-1602)Tca>Cca p.S534P NTN4_ENST00000538383.1_Missense_Mutation_p.S497P|NTN4_ENST00000553059.1_Missense_Mutation_p.S511P|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Missense_Mutation_p.S497P NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 534 NTR. axon guidance basement membrane|plasma membrane p.S534P(1) NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TCATGAGCTGATAAAATCTTT 0.303000 6 60 0 0 0.248553 0 0 MET 4233 broad.mit.edu 37 7 116412024 116412024 + Nonsense_Mutation SNP C C G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr7:116412024C>G ENST00000397752.3 + 14 3209 c.3009C>G c.(3007-3009)taC>taG p.Y1003* MET_ENST00000318493.6_Nonsense_Mutation_p.Y1021* NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1003 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)|p.?(1)|p.Y1021*(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTGTAGACTACCGAGCTACTT 0.383000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 6 34 0 0 0.248553 0 0 AKAP4 8852 broad.mit.edu 37 X 49955748 49955748 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:49955748A>G ENST00000376056.2 - 6 2543 c.2393T>C c.(2392-2394)gTt>gCt p.V798A AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.V807A|AKAP4_ENST00000376058.2_Missense_Mutation_p.V424A|AKAP4_ENST00000376064.3_Missense_Mutation_p.V798A Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 807 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding p.V807A(1) NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TTTAGCTGAAACCTGAGGAAG 0.507000 7 130 0 0 0.278610 0 0 ZNF544 27300 broad.mit.edu 37 19 58757682 58757682 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:58757682G>A ENST00000599227.1 + 5 633 c.49G>A c.(49-51)Gag>Aag p.E17K ZNF544_ENST00000595981.1_Missense_Mutation_p.E17K|ZNF544_ENST00000415203.2_Missense_Mutation_p.E17K|ZNF544_ENST00000596929.1_Missense_Mutation_p.E17K|ZNF544_ENST00000599953.1_Intron|ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Missense_Mutation_p.E17K|ZNF544_ENST00000600220.1_Missense_Mutation_p.E17K|ZNF544_ENST00000600044.1_Missense_Mutation_p.E17K|ZNF544_ENST00000596825.1_Missense_Mutation_p.E17K|ZNF544_ENST00000594384.1_Missense_Mutation_p.E17K|ZNF544_ENST00000596652.1_Missense_Mutation_p.E17K|ZNF544_ENST00000333581.5_Missense_Mutation_p.E17K|ZNF544_ENST00000269829.4_Missense_Mutation_p.E17K Q6NX49 ZN544_HUMAN zinc finger protein 544 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E17K(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TGTGTGCTTCGAGGATGTGGC 0.552000 13 223 0 0 0.435327 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722914 64722914 + Missense_Mutation SNP T T C TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:64722914T>C ENST00000338957.4 + 5 2403 c.2336T>C c.(2335-2337)aTg>aCg p.M779T ZC3H12B_ENST00000423889.3_Missense_Mutation_p.M768T NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 768 endonuclease activity|nucleic acid binding|zinc ion binding p.M715T(1)|p.M629T(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGGGTTGGAATGTGCAATGAT 0.478000 13 76 0 0 0.411799 0 0 AMOT 154796 broad.mit.edu 37 X 112024327 112024327 + Missense_Mutation SNP G G T TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chrX:112024327G>T ENST00000371959.3 - 9 2259 c.2260C>A c.(2260-2262)Cag>Aag p.Q754K AMOT_ENST00000371962.1_Missense_Mutation_p.Q522K|AMOT_ENST00000371958.1_Missense_Mutation_p.Q522K|AMOT_ENST00000524145.1_Missense_Mutation_p.Q754K|AMOT_ENST00000304758.1_Missense_Mutation_p.Q345K NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 754 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q345K(1)|p.Q754K(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TCAATAATCTGGGCATGGAGG 0.532000 13 162 4.36969e-10 5.07448e-10 0.435327 1 0 ZNF8 7554 broad.mit.edu 37 19 58805974 58805974 + Missense_Mutation SNP A A G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr19:58805974A>G ENST00000196548.5 + 4 931 c.800A>G c.(799-801)aAc>aGc p.N267S AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N267S(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AAGTCGTTTAACCATAACGCA 0.488000 7 29 0 0 0.248553 0 0 FGFR1OP 11116 broad.mit.edu 37 6 167417806 167417806 + Missense_Mutation SNP G G A TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr6:167417806G>A ENST00000366847.3 + 5 586 c.355G>A c.(355-357)Gca>Aca p.A119T FGFR1OP_ENST00000349556.4_Missense_Mutation_p.A119T NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 119 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity p.A119T(1) large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) TATAATTGAAGCAGAAGGTAC 0.413000 T FGFR1 """MPD, NHL""" 11 43 0 0 0.361761 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137803 121137805 + RNA DEL CCA CCA - rs60375635 by1000genomes TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr1:121137803_121137805delCCA ENST00000437515.1 - 0 329 ACCGCCGCCGCCACGGCTTTTTG 0.645 2 4 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195447912 195447914 + In_Frame_Del DEL TTC TTC - TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr3:195447912_195447914delTTC ENST00000320736.6 + 1 160_162 c.34_36delTTC c.(34-36)del p.F14del MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del|MUC20_ENST00000447234.2_In_Frame_Del_p.F14del NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 14 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCTGCCCCTTTTCTTCTTCTGCT 0.611 4 3 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 3 --- --- --- --- PHLDA2 7262 broad.mit.edu 37 11 2950237 2950238 + Frame_Shift_Ins INS - - G TCGA-75-6205-01A-11D-1753-08 TCGA-75-6205-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79c0e183-95aa-4c37-9b15-8567aa87c93a e5c1b4a8-e9f1-40c0-a1ef-58a184918b2c g.chr11:2950237_2950238insG ENST00000314222.4 - 1 447_448 c.357_358insC c.(355-360)ccccgcfs p.R120fs NM_003311.3 NP_003302.1 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain, family A, member 2 120 apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) GCGGGTGCGGCGGGTGCGGTGC 0.743 2 4 --- --- --- ---