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 FAM83G 644815 broad.mit.edu 37 17 18881175 18881175 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr17:18881175G>A ENST00000388995.6 - 5 2027 c.1804C>T c.(1804-1806)Cgt>Tgt p.R602C FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 602 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CCAGGGCCACGGCCGGAGCTG 0.637000 20 150 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 236619 236619 + Missense_Mutation SNP T T C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr5:236619T>C ENST00000264932.6 + 10 1452 c.1337T>C c.(1336-1338)gTa>gCa p.V446A SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 446 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TGTGCCTCGGTACATGGTGCC 0.602000 Familial Paragangliomas 5 146 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240005917 240005917 + Silent SNP G G A rs149230665 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr2:240005917G>A ENST00000345617.3 - 20 3242 c.2451C>T c.(2449-2451)tcC>tcT p.S817S HDAC4_ENST00000543185.1_Silent_p.S401S NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 817 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCACGGCCACGGAGTTGAAGT 0.632000 3 35 0 0 1 0 0 SRPR 6734 broad.mit.edu 37 11 126135974 126135974 + Missense_Mutation SNP G G A rs138456100 byFrequency TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr11:126135974G>A ENST00000332118.6 - 8 1089 c.935C>T c.(934-936)gCg>gTg p.A312V SRPR_ENST00000532259.1_Missense_Mutation_p.A284V NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 312 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCCCTTGGTCGCACTGCAGGG 0.478000 5 383 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141762391 141762391 + Missense_Mutation SNP T T C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr8:141762391T>C ENST00000522684.1 - 17 1586 c.1357A>G c.(1357-1359)Att>Gtt p.I453V PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 453 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) CATGTTTTAATTGCAACCGCC 0.368000 4 161 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49440276 49440276 + Silent SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr10:49440276G>A ENST00000374201.3 - 10 1352 c.1050C>T c.(1048-1050)aaC>aaT p.N350N FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 350 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGTGCTGCCCGTTCAGCAGGA 0.443000 4 134 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263907 39263907 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr13:39263907G>A ENST00000280481.7 + 1 2642 c.2426G>A c.(2425-2427)cGa>cAa p.R809Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 809 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTGGAAGACCGAGCTGGGAAT 0.542000 14 123 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27061088 27061088 + Silent SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr17:27061088G>A ENST00000268766.6 + 2 169 c.135G>A c.(133-135)cgG>cgA p.R45R NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 45 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) AGGAAGAGCGGCAGGCAGCCC 0.527000 10 127 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627785 43627785 + Missense_Mutation SNP G G T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr9:43627785G>T ENST00000332857.6 - 4 930 c.902C>A c.(901-903)cCt>cAt p.P301H SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GCGGGAAAGAGGATCTTGCTG 0.547000 6 951 0.000157383 0.000162152 1 1 0 PSME1 5720 broad.mit.edu 37 14 24606754 24606754 + Missense_Mutation SNP A A C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr14:24606754A>C ENST00000382708.3 + 5 335 c.272A>C c.(271-273)aAg>aCg p.K91T PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.K91T|PSME1_ENST00000561435.1_Missense_Mutation_p.K91T NM_176783.1 NP_788955.1 Q06323 PSME1_HUMAN proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(265;0.00831) GAAAAGAAGAAGGGGGAGGAT 0.488000 17 101 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841641 70841641 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr16:70841641G>A ENST00000393567.2 - 86 15358 c.15208C>T c.(15208-15210)Cgg>Tgg p.R5070W NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5070 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTCTTGGGCCGCACAGACTCT 0.517000 4 219 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49869465 49869465 + Silent SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr3:49869465C>T ENST00000331456.2 - 11 1034 c.921G>A c.(919-921)cgG>cgA p.R307R TRAIP_ENST00000469027.1_Silent_p.R152R NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 307 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding p.R307R(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGAAGGATGGCCGGCGGAGCT 0.547000 17 110 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2236990 2236990 + Missense_Mutation SNP C C A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr16:2236990C>A ENST00000343516.6 - 9 1011 c.919G>T c.(919-921)Gac>Tac p.D307Y NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 307 SH3. signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GTGATGATGTCCCCTGCCTTC 0.652000 13 144 0.00185496 0.00188264 1 1 0 PLEKHG5 57449 broad.mit.edu 37 1 6530295 6530295 + Splice_Site SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr1:6530295C>T ENST00000377748.1 - 17 2529 c.e17+1 PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCTGGAATCACCTTGCTGTCC 0.662000 9 76 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43305558 43305558 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr6:43305558C>T ENST00000361428.2 - 10 6255 c.6178G>A c.(6178-6180)Gct>Act p.A2060T ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2060 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCGAAGTCAGCGGGATCGGAG 0.458000 4 167 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49197893 49197893 + Missense_Mutation SNP T T C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr17:49197893T>C ENST00000262013.7 - 1 333 c.125A>G c.(124-126)tAt>tGt p.Y42C SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C|SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 42 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTCCTCGTCATAGCGCCCGAT 0.667000 6 36 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116955280 116955280 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr7:116955280C>T ENST00000265441.3 - 3 732 c.433G>A c.(433-435)Gcc>Acc p.A145T AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 145 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CTGTCCTTGGCGCTTCCCATC 0.473000 6 196 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38829460 38829460 + Missense_Mutation SNP G G T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr4:38829460G>T ENST00000436693.2 - 2 1754 c.1635C>A c.(1633-1635)gaC>gaA p.D545E TLR6_ENST00000381950.1_Missense_Mutation_p.D545E NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 545 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGATACTTGGTCTATATTTT 0.418000 6 566 8.12818e-05 8.6362e-05 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 21 175 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45666374 45666374 + Missense_Mutation SNP G G A rs141318231 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr21:45666374G>A ENST00000270172.3 - 12 1553 c.1070C>T c.(1069-1071)gCg>gTg p.A357V DNMT3L_ENST00000418993.1_Missense_Mutation_p.A356V NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 356 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) CCACTTGGCCGCGAGCTTCGA 0.507000 5 148 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154709562 154709562 + Silent SNP G G A rs142242428 byFrequency TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr4:154709562G>A ENST00000274063.4 - 1 710 c.426C>T c.(424-426)tgC>tgT p.C142C NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 142 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) GGAAACGGTCGCACTCAAGCA 0.647000 13 135 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124333279 124333279 + Splice_Site SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr10:124333279G>A ENST00000338354.3 + 6 389 c.e6+1 DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTAGCAGAAGGTAACGTCTAC 0.527000 35 330 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150834225 150834225 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr3:150834225C>T ENST00000474524.1 + 2 238 c.200C>T c.(199-201)tCa>tTa p.S67L MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 67 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTAACCCATCAAAGGTAATG 0.363000 9 51 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85973974 85973974 + Missense_Mutation SNP G G A rs142917517 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr10:85973974G>A ENST00000372117.3 + 17 2280 c.2177G>A c.(2176-2178)cGc>cAc p.R726H CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H|CDHR1_ENST00000332904.3_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 726 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 ACCTTCTGGCGCAACAAGAAG 0.642000 4 180 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 91 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100170874 100170874 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr2:100170874C>T ENST00000317233.4 - 23 3693 c.3458G>A c.(3457-3459)cGc>cAc p.R1153H AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H|AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000409236.1_Missense_Mutation_p.R1153H NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1153 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R1178H(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CTGGTGGATGCGCTGTGGGAT 0.632000 4 179 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49867940 49867940 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr19:49867940G>A ENST00000221498.2 + 2 517 c.112G>A c.(112-114)Gcc>Acc p.A38T DKKL1_ENST00000594268.1_Intron NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 38 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) TGATGCTGACGCCCAAGAGAG 0.622000 22 86 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 129 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2143667 2143667 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr16:2143667C>T ENST00000262304.4 - 37 11102 c.10894G>A c.(10894-10896)Gag>Aag p.E3632K RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3632 E -> D (in ADPKD1). 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 GCCGGGCTCTCTACCAGGGTG 0.642000 3 40 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37203492 37203492 + Missense_Mutation SNP A A T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr20:37203492A>T ENST00000262879.6 + 30 4651 c.4367A>T c.(4366-4368)cAt>cTt p.H1456L RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1456 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGTCCCCCCCATGTCCGCCGG 0.438000 14 219 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114082755 114082755 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chrX:114082755C>T ENST00000276198.1 + 5 1267 c.539C>T c.(538-540)gCa>gTa p.A180V HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 180 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ATTGTTTGGGCAATTTCTATA 0.408000 27 155 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37686866 37686866 + Missense_Mutation SNP C C G TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr17:37686866C>G ENST00000447079.4 + 14 3803 c.3770C>G c.(3769-3771)cCt>cGt p.P1257R CDK12_ENST00000430627.2_Intron NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1257 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GCATGTCCTCCTCACATTCTT 0.512000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 12 492 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31237284 31237284 + Missense_Mutation SNP C C T rs116968219 by1000genomes TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr6:31237284C>T ENST00000383329.3 - 6 1066 c.1052G>A c.(1051-1053)tGc>tAc p.C351Y HLA-C_ENST00000376228.5_Missense_Mutation_p.C345Y Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 345 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 AGCCTGAGAGCAGCTCCCTCC 0.587000 4 88 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101484296 101484296 + Silent SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr3:101484296C>T ENST00000341893.3 + 11 3251 c.2499C>T c.(2497-2499)agC>agT p.S833S CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 833 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GTGAAATTAGCCAGACACAAG 0.418000 5 412 0 0 1 0 0 SAP18 10284 broad.mit.edu 37 13 21721465 21721465 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr13:21721465G>A ENST00000382533.4 + 4 542 c.503G>A c.(502-504)cGc>cAc p.R168H SAP18_ENST00000607003.1_Missense_Mutation_p.R149H NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 149 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity p.R149H(1) kidney(1)|large_intestine(1)|lung(4) 6 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) CCTTCAGGGCGCATGAGACCA 0.403000 5 324 0 0 1 0 0 ZNF320 162967 broad.mit.edu 37 19 53384108 53384108 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr19:53384108C>T ENST00000595635.1 - 8 1772 c.1271G>A c.(1270-1272)cGc>cAc p.R424H ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000597909.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) GTGTGATTTGCGAATGTAAAC 0.388000 4 165 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 10032029 10032029 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr16:10032029G>A ENST00000396573.2 - 4 1103 c.794C>T c.(793-795)aCg>aTg p.T265M GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 265 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T265M(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATGAGCTCCGTGTTCCCAGA 0.552000 5 122 0 0 1 0 0 AVPR2 0 broad.mit.edu 37 X 153171401 153171401 + Silent SNP G G A rs143055328 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chrX:153171401G>A ENST00000358927.2 + 3 650 c.441G>A c.(439-441)gcG>gcA p.A147A AVPR2_ENST00000370049.1_Silent_p.A147A|AVPR2_ENST00000337474.5_Silent_p.A147A P30518 V2R_HUMAN arginine vasopressin receptor 2 147 A -> V (in dbSNP:rs5200). 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) CCATGCTGGCGTACCGCCATG 0.627000 14 159 0 0 1 0 0 PLD3 0 broad.mit.edu 37 19 40872763 40872763 + Silent SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr19:40872763C>T ENST00000409587.1 + 5 583 c.186C>T c.(184-186)taC>taT p.Y62Y PLD3_ENST00000409419.1_Silent_p.Y62Y|PLD3_ENST00000409735.4_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409281.1_Silent_p.Y62Y Q8IV08 PLD3_HUMAN phospholipase D family, member 3 62 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) TATGGGAATACGGCGACTTGC 0.632000 4 185 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71351177 71351177 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chrX:71351177C>T ENST00000545866.1 - 1 581 c.214G>A c.(214-216)Gcg>Acg p.A72T NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.A72T Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 72 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TCACTGAGCGCGAACTCCAAG 0.597000 9 131 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49898519 49898519 + Missense_Mutation SNP G G A rs62623430 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr19:49898519G>A ENST00000447857.3 + 4 510 c.305G>A c.(304-306)cGt>cAt p.R102H NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 102 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GTTGTCATGCGTGACTGGATT 0.552000 25 143 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 265 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106082571 106082571 + Missense_Mutation SNP G G T rs138021287 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chrX:106082571G>T ENST00000357242.5 + 8 1411 c.1237G>T c.(1237-1239)Gat>Tat p.D413Y TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 413 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGAGCCATCTGATAATTTTGA 0.378000 22 229 1.28384e-07 1.38573e-07 1 1 0 PACRGL 133015 broad.mit.edu 37 4 20715062 20715062 + Missense_Mutation SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr4:20715062C>T ENST00000360916.5 + 7 900 c.509C>T c.(508-510)tCg>tTg p.S170L PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000503585.1_Missense_Mutation_p.S170L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 170 binding endometrium(2)|lung(7)|prostate(1) 10 CAGGTCCATTCGGATGATGAA 0.428000 20 125 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10942732 10942732 + Silent SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr21:10942732G>A ENST00000298232.7 - 12 1022 c.655C>T c.(655-657)Cta>Tta p.L219L TPTE_ENST00000361285.4_Silent_p.L237L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L199L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 237 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGAGGTCTAGGTCAAATCCA 0.323000 24 814 0 0 1 0 0 PALM2 114299 broad.mit.edu 37 9 112686117 112686117 + Silent SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr9:112686117G>A ENST00000448454.2 + 5 366 c.366G>A c.(364-366)aaG>aaA p.K122K AKAP2_ENST00000555236.1_Silent_p.K120K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K|PALM2_ENST00000374531.2_Silent_p.K122K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 AATCCTTCAAGGACTTTCAGA 0.418000 6 41 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141759688 141759688 + Silent SNP T T C TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr7:141759688T>C ENST00000475668.2 + 33 4035 c.3981T>C c.(3979-3981)ccT>ccC p.P1327P MGAM_ENST00000549489.2_Silent_p.P1327P O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1327 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.P1327P(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGACACAGCCTTATCCTGCCT 0.463000 4 44 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129963161 129963161 + Missense_Mutation SNP C C T rs143012976 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr6:129963161C>T ENST00000368149.2 - 2 204 c.116G>A c.(115-117)cGc>cAc p.R39H NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 39 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GCCATATCTGCGACTGTAAAT 0.383000 5 236 0 0 1 0 0 PALM2 114299 broad.mit.edu 37 9 112686126 112686126 + Missense_Mutation SNP G G C rs141885294 TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr9:112686126G>C ENST00000448454.2 + 5 375 c.375G>C c.(373-375)caG>caC p.Q125H AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H|PALM2_ENST00000374531.2_Missense_Mutation_p.Q125H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 AGGACTTTCAGAAGGTGAAGA 0.413000 5 35 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73204634 73204634 + Missense_Mutation SNP G G A TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr17:73204634G>A ENST00000245544.4 + 2 117 c.46G>A c.(46-48)Gtg>Atg p.V16M NUP85_ENST00000449421.2_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 16 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GATTCCAGGCGTGAATTCCAA 0.333000 5 552 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104722169 104722174 + In_Frame_Del DEL TTTATA TTTATA - TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr7:104722169_104722174delTTTATA ENST00000334877.4 + 13 1817_1822 c.1283_1288delTTTATA c.(1282-1290)ctt>c p.LYI428del KMT2E_ENST00000476671.1_In_Frame_Del_p.LYI428del|KMT2E_ENST00000257745.4_In_Frame_Del_p.LYI428del|KMT2E_ENST00000311117.3_In_Frame_Del_p.LYI428del|KMT2E_ENST00000334914.7_5'UTR lysine (K)-specific methyltransferase 2E ACCATACATCTTTATATTTATTCTAT 0.306 20 166 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 9 12 --- --- --- --- LGR4 55366 broad.mit.edu 37 11 27398748 27398749 + Frame_Shift_Del DEL TT TT - TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr11:27398748_27398749delTT ENST00000379214.4 - 12 1508_1509 c.1065_1066delAA c.(1063-1068)atgafs p.IR355fs LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 355 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GGAAGGTCTCTTATATTATTGT 0.332 25 187 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45754101 45754103 + RNA DEL CAC CAC - TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr15:45754101_45754103delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA atcacaccatcaccaccaccacc 0.571 2 4 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f85240-c7fa-4026-b140-a777f230e3c9 b796628d-4a83-41f2-a924-33daf125d626 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 13 562 --- --- --- ---