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 GRHL3 57822 broad.mit.edu 37 1 24676595 24676595 + Nonsense_Mutation SNP C C G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr1:24676595C>G ENST00000361548.4 + 15 1907 c.1677C>G c.(1675-1677)taC>taG p.Y559* GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559* NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 559 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Y564*(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) ACAAAGTCTACAAGAAATGCA 0.498 3 51 --- --- --- --- RUNX3 864 broad.mit.edu 37 1 25229113 25229113 + Missense_Mutation SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr1:25229113G>A ENST00000399916.1 - 6 1228 c.790C>T c.(790-792)Cgc>Tgc p.R264C RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 250 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R264C(1)|p.R250C(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GGGAAGGAGCGGTCAAACTGG 0.637 5 202 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39798824 39798824 + Silent SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr1:39798824A>G ENST00000564288.1 + 37 7341 c.6564A>G c.(6562-6564)ggA>ggG p.G2188G MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000372915.3_Silent_p.G2193G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2193 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATGAAACTGGAGGATCTCACA 0.358 3 154 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201061108 201061108 + Missense_Mutation SNP C C A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr1:201061108C>A ENST00000362061.3 - 4 759 c.533G>T c.(532-534)gGg>gTg p.G178V CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 178 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.G178V(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACTAGGCACCCCCGACACCAG 0.612 3 69 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203681221 203681221 + Missense_Mutation SNP T T C TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr1:203681221T>C ENST00000357681.5 + 13 3288 c.2165T>C c.(2164-2166)tTa>tCa p.L722S ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 722 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TTCCTGTGCTTAGAAGGCAAA 0.547 3 168 --- --- --- --- TRIM43 129868 broad.mit.edu 37 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr2:96260870G>A ENST00000272395.2 + 3 620 c.484G>A c.(484-486)Gga>Aga p.G162R NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 162 intracellular zinc ion binding p.G162R(2) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ATATGAGGAGGGAAGAACAGC 0.398 4 76 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179659235 179659235 + Missense_Mutation SNP A A T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr2:179659235A>T ENST00000589042.1 - 8 1513 c.1289T>A c.(1288-1290)gTt>gAt p.V430D TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 430 Ala-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V430D(7) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACGGCAGCAACAACAGTCGC 0.458 9 151 --- --- --- --- PPARG 5468 broad.mit.edu 37 3 12475528 12475528 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr3:12475528A>G ENST00000397026.2 + 9 1719 c.1336A>G c.(1336-1338)Aca>Gca p.T446A PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 468 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.T468A(1) PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCAGAAAATGACAGACCTCAG 0.522 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 3 101 --- --- --- --- ATG12 9140 broad.mit.edu 37 5 115177236 115177236 + Missense_Mutation SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr5:115177236G>A ENST00000509910.1 - 1 319 c.14C>T c.(13-15)cCg>cTg p.P5L AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L O94817 ATG12_HUMAN autophagy related 12 5 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding p.P52L(1) endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) CACAGACTGCGGCTCCTCCGC 0.607 81 92 --- --- --- --- SUN1 23353 broad.mit.edu 37 7 888226 888226 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr7:888226A>G ENST00000456758.2 + 9 1004 c.1004A>G c.(1003-1005)tAt>tGt p.Y335C SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_Missense_Mutation_p.Y25C|SUN1_ENST00000389574.3_Intron O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCGAAAGCTATAAGTCAAAA 0.328 65 154 --- --- --- --- DLX5 1749 broad.mit.edu 37 7 96653697 96653697 + Missense_Mutation SNP A A T rs149635296 byFrequency TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr7:96653697A>T ENST00000222598.4 - 1 712 c.239T>A c.(238-240)gTg>gAg p.V80E DLX5_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 80 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.V80E(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGAGCCGTTCACGCCGTGATA 0.612 22 58 --- --- --- --- RGS20 8601 broad.mit.edu 37 8 54791832 54791832 + Silent SNP A A T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr8:54791832A>T ENST00000297313.3 + 2 272 c.180A>T c.(178-180)gcA>gcT p.A60A RGS20_ENST00000344277.6_Intron NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 60 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity p.A60A(1) breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) TCCCGCCTGCACAGCTCCCAG 0.597 88 166 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70498706 70498706 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr8:70498706A>G ENST00000260128.4 + 7 1244 c.527A>G c.(526-528)aAt>aGt p.N176S SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 176 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.N176S(1) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GTTTGTCGCAATGGCATCAAA 0.388 16 293 --- --- --- --- RBM12B 389677 broad.mit.edu 37 8 94746488 94746488 + Missense_Mutation SNP C C G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr8:94746488C>G ENST00000399300.2 - 3 2364 c.2151G>C c.(2149-2151)caG>caC p.Q717H RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 717 nucleotide binding|RNA binding p.Q717H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTGGGGTGACTGCCTGAAGT 0.627 145 235 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124705463 124705463 + Nonsense_Mutation SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr8:124705463G>A ENST00000262219.6 - 9 806 c.739C>T c.(739-741)Cga>Tga p.R247* ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206* NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 206 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding p.R247*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AAGGTGGCTCGTAACTGCTTG 0.448 9 404 --- --- --- --- CYC1 1537 broad.mit.edu 37 8 145150822 145150822 + Silent SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr8:145150822G>A ENST00000318911.4 + 2 289 c.216G>A c.(214-216)gcG>gcA p.A72A NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 72 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding p.A72A(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGGGGTGCGGGGCTGGCCA 0.652 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 67 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 5968943 5968943 + Missense_Mutation SNP G G T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr9:5968943G>T ENST00000399933.3 - 3 1287 c.1288C>A c.(1288-1290)Ctt>Att p.L430I KIAA2026_ENST00000381461.2_Missense_Mutation_p.L430I NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 430 p.L430I(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGACCCTTAAGTAGCCACACT 0.383 5 32 --- --- --- --- OR52E4 390081 broad.mit.edu 37 11 5905957 5905957 + Silent SNP C C T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr11:5905957C>T ENST00000316987.2 + 1 457 c.435C>T c.(433-435)atC>atT p.I145I NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I145I(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATCAGTATCCTAGCTTCTG 0.453 6 256 --- --- --- --- CNTN5 53942 broad.mit.edu 37 11 99690380 99690380 + Missense_Mutation SNP A A C TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr11:99690380A>C ENST00000524871.1 + 4 451 c.161A>C c.(160-162)tAc>tCc p.Y54S CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 54 cell adhesion anchored to membrane|plasma membrane protein binding p.Y54S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGACCACGATACAGCAGCCCT 0.428 5 188 --- --- --- --- C11orf70 85016 broad.mit.edu 37 11 101946634 101946634 + Nonsense_Mutation SNP G G T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr11:101946634G>T ENST00000434758.2 + 5 494 c.466G>T c.(466-468)Gaa>Taa p.E156* C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 156 p.E118*(1) breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AGAAAAATATGAAATATTCAG 0.343 17 191 --- --- --- --- HELB 92797 broad.mit.edu 37 12 66725033 66725033 + Missense_Mutation SNP T T C TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr12:66725033T>C ENST00000247815.4 + 12 2829 c.2770T>C c.(2770-2772)Tat>Cat p.Y924H NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 924 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity p.Y924H(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CTGCCGAGTGTATGTGATTGC 0.532 43 99 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78562611 78562611 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr12:78562611A>G ENST00000397909.2 + 24 5119 c.4946A>G c.(4945-4947)cAg>cGg p.Q1649R NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R Q8IVL0 NAV3_HUMAN neuron navigator 3 1649 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCGGCTATTCAGGGAGCACTG 0.373 HNSCC(70;0.22) 3 226 --- --- --- --- ACSS3 79611 broad.mit.edu 37 12 81647350 81647350 + Silent SNP T T C TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr12:81647350T>C ENST00000548058.1 + 15 2806 c.1896T>C c.(1894-1896)gcT>gcC p.A632A ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 632 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CTGTGGCTGCTTTTCGAAATG 0.433 6 207 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102474613 102474613 + Silent SNP C C A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr14:102474613C>A ENST00000360184.4 + 29 6080 c.5916C>A c.(5914-5916)tcC>tcA p.S1972S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1972 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.S1972S(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CGGCTGTGTCCCAGCAGGTGC 0.537 38 51 --- --- --- --- TIMM22 29928 broad.mit.edu 37 17 900589 900589 + Nonsense_Mutation SNP C C A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr17:900589C>A ENST00000327158.4 + 1 233 c.207C>A c.(205-207)tgC>tgA p.C69* NM_013337.2 NP_037469.2 Q9Y584 TIM22_HUMAN translocase of inner mitochondrial membrane 22 homolog (yeast) transmembrane transport integral to membrane|mitochondrial inner membrane protein transporter activity p.C69*(1) breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TGGAAAGCTGCGCTTTCAAGG 0.662 3 47 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5418327 5418327 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr17:5418327A>G ENST00000345221.3 - 16 4591 c.4037T>C c.(4036-4038)aTa>aCa p.I1346T NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1390 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.I1390T(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CACTCGGGCTATCAGCTGCTC 0.582 3 93 --- --- --- --- RAB34 83871 broad.mit.edu 37 17 27042839 27042839 + Missense_Mutation SNP C C T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr17:27042839C>T ENST00000395245.3 - 4 919 c.293G>A c.(292-294)gGc>gAc p.G98D RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family 98 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) GAAGGGAATGCCCAGCACCTC 0.517 4 315 --- --- --- --- KRT25 147183 broad.mit.edu 37 17 38911399 38911399 + Missense_Mutation SNP C C A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr17:38911399C>A ENST00000312150.4 - 1 185 c.125G>T c.(124-126)gGa>gTa p.G42V NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 42 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity p.G42V(1) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GAAGCCACTTCCAATCCCTGA 0.557 5 67 --- --- --- --- HID1 283987 broad.mit.edu 37 17 72949181 72949181 + Splice_Site SNP C C A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr17:72949181C>A ENST00000425042.2 - 16 2049 c.1972G>T c.(1972-1974)Gag>Tag p.E658* NM_030630.2 NP_085133.1 HID1 domain containing p.E658*(1) TGGCTGGGCTCCTGGCCCCCA 0.672 3 13 --- --- --- --- ANKRD30B 374860 broad.mit.edu 37 18 14757889 14757889 + Silent SNP C C G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr18:14757889C>G ENST00000358984.4 + 5 873 c.693C>G c.(691-693)gtC>gtG p.V231V ANKRD30B_ENST00000447268.2_Silent_p.V231V|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 231 p.V231V(2) breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ATGTTGACGTCTTTGCTGAAG 0.378 3 65 --- --- --- --- TTC39C 125488 broad.mit.edu 37 18 21663014 21663014 + Missense_Mutation SNP T T C TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr18:21663014T>C ENST00000317571.3 + 6 1189 c.953T>C c.(952-954)aTg>aCg p.M318T TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 318 binding p.M257T(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TCCCTCTTTATGTTTTTCAAG 0.398 71 47 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54760066 54760066 + Silent SNP G G T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr19:54760066G>T ENST00000450632.1 - 4 545 c.468C>A c.(466-468)acC>acA p.T156T LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000449561.2_Silent_p.T165T O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 165 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity p.T165T(1)|p.T156T(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGAGTACAGGGTCCTGGGGA 0.557 57 105 --- --- --- --- MMP24 10893 broad.mit.edu 37 20 33839802 33839802 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr20:33839802A>G ENST00000246186.6 + 3 575 c.490A>G c.(490-492)Agg>Ggg p.R164G MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 164 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.R164G(1) NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) ACAGAAGTGGAGGCAAAAACA 0.552 4 121 --- --- --- --- SHROOM2 357 broad.mit.edu 37 X 9912815 9912815 + Silent SNP C C T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chrX:9912815C>T ENST00000380913.3 + 9 4536 c.4446C>T c.(4444-4446)ccC>ccT p.P1482P SHROOM2_ENST00000418909.2_Silent_p.P317P NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1482 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity p.P1482P(1) breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) TCTGCAAGCCCAGCGAGTTTG 0.647 3 42 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70471027 70471027 + Splice_Site SNP C C A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chrX:70471027C>A ENST00000373998.1 - 4 1476 c.e4+1 ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 multicellular organismal development nucleus DNA binding|zinc ion binding p.?(1) breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) ATCCTACTTACTGCTCTCAGT 0.532 65 15 --- --- --- --- OGT 8473 broad.mit.edu 37 X 70767813 70767813 + Missense_Mutation SNP T T G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chrX:70767813T>G ENST00000373719.3 + 5 805 c.588T>G c.(586-588)aaT>aaG p.N196K OGT_ENST00000373701.3_Missense_Mutation_p.N186K NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 196 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity p.N196K(1)|p.N186K(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) CTTGGAGTAATCTTGGCTGTG 0.378 9 189 --- --- --- --- MT-ND5 4540 broad.mit.edu 37 M 12957 12957 + Silent SNP T T C TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chrM:12957T>C ENST00000361567.2 + 1 621 c.621T>C c.(619-621)aaT>aaC p.N207N P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 207 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTAAACGCTAATCCAAGCCTC 0.522 12 1 --- --- --- --- CERS6 253782 broad.mit.edu 37 2 169417720 169417720 + Frame_Shift_Del DEL T T - TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chr2:169417720delT ENST00000305747.6 + 3 882 c.295delT c.(295-297)ttgfs p.L99fs CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 99 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGAAAAGAGATTGGAAGGCCT 0.428 14 250 --- --- --- --- GPR64 10149 broad.mit.edu 37 X 19026198 19026199 + Frame_Shift_Ins INS - - T TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c1be2ab-1f84-46dc-b166-4d703d0e8ffa 3b14c841-4ca0-49a9-b938-de2ebbea8bdf g.chrX:19026198_19026199insT ENST00000379878.3 - 18 1658_1659 c.1417_1418insA c.(1417-1419)attfs p.I473fs GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000340581.3_Intron NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 489 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGGAAGAGTAATTGTGCCAATA 0.391 91 23 --- --- --- ---