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 PLK3 1263 broad.mit.edu 37 1 45270100 45270100 + Missense_Mutation SNP T T C TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr1:45270100T>C ENST00000372201.4 + 12 1671 c.1432T>C c.(1432-1434)Tat>Cat p.Y478H PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 478 POLO box 1. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CGGCTTTGGGTATCAACTGTC 0.572 27 97 --- --- --- --- HECTD3 79654 broad.mit.edu 37 1 45472380 45472380 + Missense_Mutation SNP A A C TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr1:45472380A>C ENST00000372172.4 - 13 1780 c.1709T>G c.(1708-1710)gTa>gGa p.V570G HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 570 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) GGCTGTGCGTACAAAGAAGGG 0.572 12 84 --- --- --- --- CCDC17 149483 broad.mit.edu 37 1 46086625 46086625 + Missense_Mutation SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr1:46086625G>A ENST00000421127.2 - 11 1665 c.1522C>T c.(1522-1524)Ctt>Ttt p.L508F CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F NM_001114938.2|NM_001190182.1 NP_001108410.2|NP_001177111.1 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 517 kidney(1)|large_intestine(1)|lung(1)|ovary(2) 5 Acute lymphoblastic leukemia(166;0.155) TCCAGAGGAAGGGCCCGAAGT 0.577 5 22 --- --- --- --- LPPR4 9890 broad.mit.edu 37 1 99767329 99767329 + Missense_Mutation SNP T T C TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr1:99767329T>C ENST00000370185.3 + 6 1339 c.842T>C c.(841-843)cTc>cCc p.L281P LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 281 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CTGAAACCTCTCTTGGTCTTC 0.363 7 72 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144916719 144916719 + Silent SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr1:144916719G>A ENST00000529945.1 - 9 2564 c.2125C>T c.(2125-2127)Ctg>Ttg p.L709L PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313431.9_Silent_p.L709L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 546 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCACTTCCAGGCCTTTGGCC 0.423 T PDGFRB MPD 5 350 --- --- --- --- LRP2 4036 broad.mit.edu 37 2 170053462 170053462 + Missense_Mutation SNP T T A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr2:170053462T>A ENST00000263816.3 - 46 8942 c.8657A>T c.(8656-8658)gAa>gTa p.E2886V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2886 LDL-receptor class A 20. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACAATCTGTTTCTTGATCACA 0.458 8 81 --- --- --- --- C3orf14 57415 broad.mit.edu 37 3 62317034 62317034 + Missense_Mutation SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr3:62317034G>A ENST00000494481.1 + 5 526 c.212G>A c.(211-213)aGg>aAg p.R71K C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA Q9HBI5 CC014_HUMAN chromosome 3 open reading frame 14 71 central_nervous_system(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) CTACAGACCAGGATTCACCCA 0.408 19 87 --- --- --- --- LPHN3 23284 broad.mit.edu 37 4 62679557 62679557 + Missense_Mutation SNP T T A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr4:62679557T>A ENST00000512091.2 + 8 1973 c.1226T>A c.(1225-1227)aTt>aAt p.I409N LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 gtttcatacatttctccgcca 0.363 10 39 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150911164 150911164 + Silent SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr5:150911164G>A ENST00000261800.5 - 13 9807 c.9795C>T c.(9793-9795)cgC>cgT p.R3265R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3265 Cadherin 29. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCATCCAGGCGGAACCTGC 0.652 5 40 --- --- --- --- GLDC 2731 broad.mit.edu 37 9 6540103 6540103 + Missense_Mutation SNP T T G TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr9:6540103T>G ENST00000321612.6 - 22 2763 c.2613A>C c.(2611-2613)aaA>aaC p.K871N NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 871 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTGCAGACTTTTTGAAGGGTC 0.453 26 93 --- --- --- --- ZNF485 220992 broad.mit.edu 37 10 44112021 44112021 + Missense_Mutation SNP A A G TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr10:44112021A>G ENST00000361807.3 + 5 724 c.530A>G c.(529-531)cAt>cGt p.H177R ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TTAAATCACCATAAGGTTCAT 0.393 18 84 --- --- --- --- HKDC1 80201 broad.mit.edu 37 10 71008401 71008401 + Missense_Mutation SNP A A G TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr10:71008401A>G ENST00000354624.5 + 10 1620 c.1487A>G c.(1486-1488)gAg>gGg p.E496G HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 496 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GCTGAGCTGGAGTATGGGCTG 0.657 4 37 --- --- --- --- GRID1 2894 broad.mit.edu 37 10 87407079 87407079 + Silent SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr10:87407079G>A ENST00000327946.7 - 13 2158 c.2073C>T c.(2071-2073)ttC>ttT p.F691F GRID1_ENST00000536331.1_Silent_p.F262F|RP11-93H12.4_ENST00000474115.2_RNA NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 691 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCTTGGCTCGGAAGTACTCAT 0.552 Multiple Myeloma(13;0.14) 8 331 --- --- --- --- IFIT5 24138 broad.mit.edu 37 10 91177946 91177946 + Silent SNP C C T TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr10:91177946C>T ENST00000371795.4 + 2 1203 c.990C>T c.(988-990)gcC>gcT p.A330A IFIT5_ENST00000416601.1_Silent_p.A282A NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 330 binding endometrium(1)|large_intestine(4)|lung(4) 9 TCAAAGCAGCCATGGAACGAG 0.433 31 159 --- --- --- --- PITX3 5309 broad.mit.edu 37 10 103990274 103990274 + Silent SNP T T C TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr10:103990274T>C ENST00000370002.3 - 4 1059 c.906A>G c.(904-906)gtA>gtG p.V302V PITX3_ENST00000539804.1_Silent_p.V302V NM_005029.3 NP_005020.1 O75364 PITX3_HUMAN paired-like homeodomain 3 302 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2) 5 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGGCCGCTCATACGGGCCTTT 0.667 3 21 --- --- --- --- TRIM68 55128 broad.mit.edu 37 11 4626487 4626487 + Missense_Mutation SNP C C T TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr11:4626487C>T ENST00000300747.5 - 2 537 c.248G>A c.(247-249)cGt>cAt p.R83H NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 83 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding p.R83H(1) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCTTAGCAGACGGACTTTTTC 0.532 31 151 --- --- --- --- CACNA2D4 93589 broad.mit.edu 37 12 2022195 2022195 + Silent SNP C C T TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr12:2022195C>T ENST00000382722.5 - 3 782 c.420G>A c.(418-420)gcG>gcA p.A140A CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 140 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTACCTGGACCGCCTCGACTT 0.597 8 30 --- --- --- --- VWA9 81556 broad.mit.edu 37 15 65871953 65871953 + Silent SNP C C G TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr15:65871953C>G ENST00000395644.4 - 12 1685 c.1350G>C c.(1348-1350)ctG>ctC p.L450L VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000313182.2_Silent_p.L450L von Willebrand factor A domain containing 9 TCAGCAGGTCCAGGAAACCAA 0.527 5 42 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9082695 9082695 + Silent SNP T T A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr19:9082695T>A ENST00000397910.4 - 1 9323 c.9120A>T c.(9118-9120)acA>acT p.T3040T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3041 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAAGGAAGCTTGTTTCTTTCT 0.483 8 72 --- --- --- --- TRMT1 55621 broad.mit.edu 37 19 13216326 13216326 + Missense_Mutation SNP C C T TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr19:13216326C>T ENST00000592062.1 - 16 2248 c.1678G>A c.(1678-1680)Ggt>Agt p.G560S TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 560 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GGCCGGGGACCCCAGTTGGCC 0.657 21 143 --- --- --- --- ACPT 93650 broad.mit.edu 37 19 51297838 51297838 + Splice_Site SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr19:51297838G>A ENST00000270593.1 + 9 986 c.986G>A c.(985-987)gGg>gAg p.G329E ACPT_ENST00000270594.3_Splice_Site_p.G236E NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 329 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AAAGATGGAGGGTGAGAATGG 0.612 4 35 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54756362 54756362 + Missense_Mutation SNP C C T TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr19:54756362C>T ENST00000450632.1 - 10 1575 c.1498G>A c.(1498-1500)Ggc>Agc p.G500S LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 508 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity 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) TTCTGCAGGCCCTGGTCCTTG 0.627 27 89 --- --- --- --- ACRC 93953 broad.mit.edu 37 X 70828895 70828895 + Missense_Mutation SNP T T A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chrX:70828895T>A ENST00000373695.1 + 9 2076 c.1539T>A c.(1537-1539)aaT>aaA p.N513K ACRC_ENST00000373696.3_Missense_Mutation_p.N513K Q96QF7 ACRC_HUMAN acidic repeat containing 513 Arg/Lys/Pro-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CTGGAAAAAATTTAAAGCGAA 0.363 12 15 --- --- --- --- ATG4A 115201 broad.mit.edu 37 X 107396937 107396937 + Missense_Mutation SNP G G A TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chrX:107396937G>A ENST00000372232.3 + 13 1351 c.1192G>A c.(1192-1194)Gtg>Atg p.V398M ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 398 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 GATTCTGAGTGTGTAGAATCC 0.393 6 69 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150832695 150832695 + Missense_Mutation SNP C C G TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chrX:150832695C>G ENST00000370357.4 + 11 1191 c.946C>G c.(946-948)Cag>Gag p.Q316E NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 316 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTCAGTGGACCAGGAGGGCCC 0.587 21 45 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32972737 32972738 + Frame_Shift_Ins INS - - T rs55881945 TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f4dae7e-36da-4014-a9df-9907ad1f7af8 fb1f3dbb-8353-4bfc-b0eb-5da03492262e g.chr13:32972737_32972738insT ENST00000544455.1 + 27 10314_10315 c.10087_10088insT c.(10087-10089)atafs p.I3363fs BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3363 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAACAATTTATATCTGTCAGT 0.381 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 14 63 --- --- --- ---