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 AKR7L 246181 broad.mit.edu 37 1 19597014 19597014 + RNA SNP G G T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:19597014G>T ENST00000420396.2 - 0 437 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CTTCCCAGGCGGCATAGTTGG 0.622 3 74 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39888543 39888543 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:39888543G>C ENST00000564288.1 + 60 16897 c.16120G>C c.(16120-16122)Gtg>Ctg p.V5374L MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5379 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) TGAGTATAAAGTGGTGAAAGC 0.458 4 29 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115489915 115489915 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:115489915C>A ENST00000369522.3 + 27 2536 c.2296C>A c.(2296-2298)Caa>Aaa p.Q766K SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K NM_001282541.1|NM_003176.2 NP_001269470.1|NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 766 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTTAAGAAGCAACTTGAAAT 0.318 12 58 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237753955 237753955 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:237753955G>A ENST00000366574.2 + 31 4140 c.3823G>A c.(3823-3825)Ggc>Agc p.G1275S RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1275 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G1273R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGAATAGACGGCACCATAGA 0.423 19 105 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80529936 80529936 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr2:80529936C>T ENST00000295057.3 - 2 1665 c.1009G>A c.(1009-1011)Gat>Aat p.D337N CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 337 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AAGTTGCCATCGTAGCGCCCC 0.657 HNSCC(69;0.2) 4 22 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88874185 88874185 + Splice_Site SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr2:88874185T>C ENST00000303236.3 - 13 3117 c.2816A>G c.(2815-2817)aAg>aGg p.K939R AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 939 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AATACAGACCTTGAGGTCCCT 0.488 4 17 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233246234 233246234 + Missense_Mutation SNP C C T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr2:233246234C>T ENST00000392027.2 + 11 1606 c.1337C>T c.(1336-1338)gCa>gTa p.A446V AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 446 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CAGCAGTCAGCAGTGCCCCTG 0.667 10 22 --- --- --- --- ZBBX 79740 broad.mit.edu 37 3 167000276 167000276 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:167000276T>C ENST00000392766.2 - 19 2227 c.1887A>G c.(1885-1887)aaA>aaG p.K629K ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 629 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTCTCTGTGATTTCTGACCTA 0.353 3 70 --- --- --- --- OPA1 4976 broad.mit.edu 37 3 193361334 193361334 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr3:193361334G>A ENST00000361510.2 + 15 1629 c.1395G>A c.(1393-1395)atG>atA p.M465I OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 410 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CATCAGGCATGGCTCCTGACA 0.308 11 46 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69198540 69198540 + Silent SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr4:69198540T>C ENST00000344157.4 - 6 1334 c.999A>G c.(997-999)ttA>ttG p.L333L YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 333 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CGGAAGATGATAATTTCTCAT 0.328 4 46 --- --- --- --- CPA5 93979 broad.mit.edu 37 7 129989880 129989880 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr7:129989880A>G ENST00000485477.1 + 4 1392 c.263A>G c.(262-264)gAa>gGa p.E88G CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 88 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CCTTTCTCTGAACTGAAAGAC 0.527 11 101 --- --- --- --- ZNF33B 7582 broad.mit.edu 37 10 43088476 43088476 + Missense_Mutation SNP T T A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr10:43088476T>A ENST00000359467.3 - 5 2036 c.1922A>T c.(1921-1923)gAg>gTg p.E641V ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 641 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTTTCCACACTCATTACATTC 0.388 4 107 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76735743 76735743 + Missense_Mutation SNP A A T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr10:76735743A>T ENST00000287239.4 + 8 2137 c.1648A>T c.(1648-1650)Atc>Ttc p.I550F KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 550 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GCTTTCTCATATCTATACCAC 0.512 9 59 --- --- --- --- RRM1 6240 broad.mit.edu 37 11 4130915 4130915 + Nonsense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:4130915C>A ENST00000300738.5 + 5 633 c.429C>A c.(427-429)taC>taA p.Y143* RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46* NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 143 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) ATTTCTCTTACAATTACTTCG 0.294 3 41 --- --- --- --- NLRP10 338322 broad.mit.edu 37 11 7982031 7982031 + Missense_Mutation SNP C C A rs74451065 TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:7982031C>A ENST00000328600.2 - 2 1289 c.1128G>T c.(1126-1128)gaG>gaT p.E376D NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 376 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTCTAGGTGTCTCTAAGACAA 0.547 10 26 --- --- --- --- SCGB1A1 7356 broad.mit.edu 37 11 62189705 62189705 + Missense_Mutation SNP T T C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:62189705T>C ENST00000278282.2 + 2 129 c.68T>C c.(67-69)aTc>aCc p.I23T CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR NM_003357.4 NP_003348.1 P11684 UTER_HUMAN secretoglobin, family 1A, member 1 (uteroglobin) 23 embryo implantation|signal transduction extracellular region binding|phospholipase A2 inhibitor activity lung(1) 1 TCTGCAGAGATCTGCCCGAGC 0.557 3 65 --- --- --- --- FLI1 2313 broad.mit.edu 37 11 128680431 128680431 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr11:128680431G>A ENST00000527786.2 + 9 1396 c.907G>A c.(907-909)Gag>Aag p.E303K FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K NM_001271010.1|NM_002017.4 NP_001257939.1|NP_002008.2 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TATCACCTGGGAGGGGACCAA 0.617 T EWSR1 Ewing sarcoma 3 9 --- --- --- --- SCYL2 55681 broad.mit.edu 37 12 100706228 100706228 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr12:100706228G>C ENST00000360820.2 + 6 1086 c.649G>C c.(649-651)Gaa>Caa p.E217Q NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 217 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TCCTTGTAAAGAATGGGACCC 0.343 3 41 --- --- --- --- DTX1 1840 broad.mit.edu 37 12 113532986 113532986 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr12:113532986A>G ENST00000257600.3 + 7 2029 c.1526A>G c.(1525-1527)tAt>tGt p.Y509C DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 509 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGCATCGTCTATGACATCCCC 0.652 21 117 --- --- --- --- IPO5 3843 broad.mit.edu 37 13 98655152 98655152 + Missense_Mutation SNP A A G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr13:98655152A>G ENST00000261574.5 + 16 1592 c.1412A>G c.(1411-1413)cAa>cGa p.Q471R IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 453 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ATGGAAGACCAAGGCAATCAA 0.453 6 20 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20856080 20856080 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr14:20856080G>A ENST00000262715.5 - 18 2708 c.2668C>T c.(2668-2670)Cct>Tct p.P890S TEP1_ENST00000556935.1_Missense_Mutation_p.P782S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 890 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGAAACAGGAGCCAAGGGG 0.542 17 88 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74825501 74825501 + Missense_Mutation SNP A A T TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr14:74825501A>T ENST00000256362.4 + 2 2256 c.2015A>T c.(2014-2016)aAg>aTg p.K672M NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 672 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCCTCCTACAAGGAGTTCAGT 0.567 24 74 --- --- --- --- SPTLC2 9517 broad.mit.edu 37 14 78021768 78021768 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr14:78021768C>A ENST00000216484.2 - 8 1244 c.1051G>T c.(1051-1053)Gcc>Tcc p.A351S NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 351 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.A351S(1) kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGGCCCAGGGCGCCAATGCTG 0.522 3 99 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93173520 93173520 + Missense_Mutation SNP C C G TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr15:93173520C>G ENST00000327355.5 - 2 698 c.400G>C c.(400-402)Gag>Cag p.E134Q FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 134 integral to membrane endometrium(2)|lung(1) 3 TCCACTCGCTCTGCTGGAGTG 0.478 8 26 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66422319 66422319 + Missense_Mutation SNP G G A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr16:66422319G>A ENST00000341529.3 + 4 740 c.592G>A c.(592-594)Gag>Aag p.E198K CDH5_ENST00000563425.2_Missense_Mutation_p.E198K NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 198 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GAAGGGGAAAGAGTATTTTGC 0.527 23 122 --- --- --- --- CYP2S1 29785 broad.mit.edu 37 19 41704492 41704492 + Missense_Mutation SNP G G C TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr19:41704492G>C ENST00000310054.4 + 4 835 c.619G>C c.(619-621)Ggt>Cgt p.G207R CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 207 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GGCAGCTGGTGGTACCCTGCT 0.627 8 114 --- --- --- --- PLEKHA4 57664 broad.mit.edu 37 19 49364696 49364696 + Missense_Mutation SNP C C A TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr19:49364696C>A ENST00000263265.6 - 5 883 c.328G>T c.(328-330)Ggg>Tgg p.G110W PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 110 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GCTCCCGGCCCATCTGGTCTA 0.612 7 78 --- --- --- --- CLCNKB 1188 broad.mit.edu 37 1 16375645 16375646 + Frame_Shift_Del DEL CC CC - TCGA-HC-7820-01A-11D-2114-08 TCGA-HC-7820-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba24c391-5c1e-47ed-a058-142c8e1feeee 02ca7fd5-cd78-4345-bbbf-2b803c6bdc01 g.chr1:16375645_16375646delCC ENST00000375679.4 + 8 797_798 c.686_687delCC c.(685-687)tccfs p.S229fs CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GTCATGTCTTCCCACTTCTCTG 0.634 23 131 --- --- --- ---