Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ACAA2 10449 broad.mit.edu 37 18 47311703 47311703 + Missense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr18:47311703G>A ENST00000285093.10 - 9 1448 c.973C>T c.(973-975)Ccc>Tcc p.P325S ACAA2_ENST00000587994.1_Missense_Mutation_p.P322S|ACAA2_ENST00000589432.1_Missense_Mutation_p.P270S NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 325 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 AAGTACTGGGGAGCAAAAGCT 0.403000 5 24 0 0 0.000602 0 0 KMT2C 58508 broad.mit.edu 37 7 151945104 151945104 + Missense_Mutation SNP A A T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr7:151945104A>T ENST00000355193.2 - 14 2633 c.2415T>A c.(2413-2415)agT>agA p.S805R KMT2C_ENST00000262189.6_Missense_Mutation_p.S805R lysine (K)-specific methyltransferase 2C CAGCAGAGGAACTAAGAGCTG 0.438000 51 794 0 0 0.014410 0 0 BCOR 54880 broad.mit.edu 37 X 39932304 39932304 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chrX:39932304G>A ENST00000342274.4 - 4 2657 c.2295C>T c.(2293-2295)tcC>tcT p.S765S BCOR_ENST00000378444.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S|BCOR_ENST00000378455.4_Silent_p.S765S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 765 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CCAAAATCTCGGAAAACCGAT 0.512000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 99 209 0 0 0.014410 0 0 SLC9A7P1 0 broad.mit.edu 37 12 98849433 98849433 + RNA SNP C C T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr12:98849433C>T ENST00000554295.1 - 0 1490 NR_033801.1 AGATGGCCAACGCAAATGCCA 0.522000 3 43 0 0 0.004672 0 0 SF3B1 23451 broad.mit.edu 37 2 198273241 198273241 + Silent SNP A A G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr2:198273241A>G ENST00000335508.5 - 8 1060 c.969T>C c.(967-969)atT>atC p.I323I NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 323 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTGTTTCACCAATAGAATCTC 0.468000 Mis myelodysplastic syndrome 31 71 0 0 0.010818 0 0 ZNF41 7592 broad.mit.edu 37 X 47308566 47308566 + Missense_Mutation SNP G G T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chrX:47308566G>T ENST00000377065.4 - 5 1242 c.603C>A c.(601-603)aaC>aaA p.N201K ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K|ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 243 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N201K(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GATTATGTGAGTTTAAAGTAT 0.328000 46 117 6.87076e-12 8.28854e-12 0.014410 1 0 NF1 4763 broad.mit.edu 37 17 29563007 29563007 + Nonsense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr17:29563007G>A ENST00000358273.4 + 29 4325 c.3942G>A c.(3940-3942)tgG>tgA p.W1314* NF1_ENST00000356175.3_Nonsense_Mutation_p.W1314* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1314 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCTCTGATTGGCAACATGTTA 0.348000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 31 43 0 0 0.013726 0 0 PKP2 5318 broad.mit.edu 37 12 32974416 32974416 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr12:32974416G>A ENST00000340811.4 - 9 1995 c.1887C>T c.(1885-1887)ggC>ggT p.G629G PKP2_ENST00000070846.6_Silent_p.G673G NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 673 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GCCACTCCACGCCCTTGGGGT 0.493000 22 72 0 0 0.002780 0 0 UNC13A 23025 broad.mit.edu 37 19 17778978 17778978 + Missense_Mutation SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr19:17778978C>A ENST00000428389.2 - 7 679 c.680G>T c.(679-681)cGc>cTc p.R227L UNC13A_ENST00000550896.1_Missense_Mutation_p.R139L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R139L|UNC13A_ENST00000552293.1_Missense_Mutation_p.R139L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R139L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R139L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 139 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GGCCCAGTAGCGAGCCTCCTC 0.582000 12 30 5.50884e-06 6.0677e-06 0.013537 1 0 PLCH2 9651 broad.mit.edu 37 1 2411404 2411404 + Missense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr1:2411404G>A ENST00000449969.1 + 3 583 c.422G>A c.(421-423)cGc>cAc p.R141H PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H|PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.R168H O75038 PLCH2_HUMAN phospholipase C, eta 2 168 Necessary for plasma membrane localization (By similarity).|PH. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CGCCGCCAGCGCACCAGGGAC 0.687000 18 49 0 0 0.012319 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 80 0 0 0.010729 0 0 PDE6B 5158 broad.mit.edu 37 4 619541 619541 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr4:619541G>A ENST00000255622.6 + 1 169 c.126G>A c.(124-126)ccG>ccA p.P42P PDE6B_ENST00000496514.1_Silent_p.P42P NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 42 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGTGCCCGCCGGACTGCGACA 0.642000 17 36 0 0 0.007413 0 0 HAUS5 23354 broad.mit.edu 37 19 36108982 36108982 + Missense_Mutation SNP A A G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr19:36108982A>G ENST00000203166.5 + 10 731 c.706A>G c.(706-708)Aca>Gca p.T236A HAUS5_ENST00000379045.2_Missense_Mutation_p.T236A NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 236 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 GACGCTGCTGACAAACCACCC 0.637000 44 142 0 0 0.007835 0 0 MAP7D2 256714 broad.mit.edu 37 X 20044027 20044027 + Missense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chrX:20044027G>A ENST00000379651.3 - 8 946 c.928C>T c.(928-930)Cct>Tct p.P310S MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P265S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P351S|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P258S|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P195S NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 310 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GGGTAGGGAGGTTTCGTTGTC 0.488000 99 245 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13923478 13923478 + Missense_Mutation SNP C C T rs116128702 by1000genomes TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr5:13923478C>T ENST00000265104.4 - 4 453 c.349G>A c.(349-351)Gag>Aag p.E117K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 117 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGTTTCCCTCGGTCACGAAC 0.448000 Kartagener syndrome 67 134 0 0 0.014410 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33657162 33657162 + Missense_Mutation SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr20:33657162C>A ENST00000252015.2 - 3 440 c.351G>T c.(349-351)agG>agT p.R117S TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R117S|TRPC4AP_ENST00000432634.2_Intron Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 117 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GGGTAAGTTTCCTCTCTTCAG 0.333000 15 105 4.7546e-09 5.475e-09 0.004007 1 0 SPACA3 124912 broad.mit.edu 37 17 31323997 31323997 + Missense_Mutation SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr17:31323997C>A ENST00000580599.1 + 4 682 c.273C>A c.(271-273)aaC>aaA p.N91K SPACA3_ENST00000269053.3_Missense_Mutation_p.N160K|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.N57K Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 160 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) ACGTCCCCAACGTGTGCCGGA 0.582000 32 40 1.414e-09 1.65329e-09 0.003755 1 0 TRAV8-2 0 broad.mit.edu 37 14 22315244 22315244 + RNA SNP A A G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr14:22315244A>G ENST00000390434.3 + 0 407 CACCCCAACAAAGGACTCCAG 0.498000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 145 0 0 0.014410 0 0 DMD 1756 broad.mit.edu 37 X 31747756 31747756 + Missense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chrX:31747756G>A ENST00000357033.4 - 52 7858 c.7652C>T c.(7651-7653)aCg>aTg p.T2551M DMD_ENST00000378677.2_Missense_Mutation_p.T2547M|DMD_ENST00000378707.3_Missense_Mutation_p.T91M|DMD_ENST00000541735.1_Missense_Mutation_p.T91M|DMD_ENST00000343523.2_Missense_Mutation_p.T91M|DMD_ENST00000474231.1_Missense_Mutation_p.T91M|DMD_ENST00000359836.1_Missense_Mutation_p.T91M NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2551 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTTCGATCCGTAATGATTGT 0.393000 69 157 0 0 0.014410 0 0 ZNF202 7753 broad.mit.edu 37 11 123601198 123601198 + Silent SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr11:123601198C>A ENST00000336139.4 - 3 761 c.399G>T c.(397-399)cgG>cgT p.R133R ZNF202_ENST00000529691.1_Silent_p.R133R|ZNF202_ENST00000530393.1_Silent_p.R133R O95125 ZN202_HUMAN zinc finger protein 202 133 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TCCTCACCCACCGCCTTGGTC 0.582000 35 82 1.69901e-12 2.08266e-12 0.005524 1 0 OR4S1 256148 broad.mit.edu 37 11 48328354 48328354 + Missense_Mutation SNP G G T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr11:48328354G>T ENST00000319988.1 + 1 580 c.580G>T c.(580-582)Ggt>Tgt p.G194C NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CTACATGGTAGGTCTCATCGT 0.453000 41 64 6.45866e-13 8.04685e-13 0.008740 1 0 CDC14A 8556 broad.mit.edu 37 1 100818540 100818540 + Silent SNP G G T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr1:100818540G>T ENST00000370125.2 + 1 518 c.30G>T c.(28-30)ggG>ggT p.G10G CDC14A_ENST00000544534.1_Silent_p.G10G|CDC14A_ENST00000361544.6_Silent_p.G10G|CDC14A_ENST00000336454.3_Silent_p.G10G|CDC14A_ENST00000370124.3_Silent_p.G10G|CDC14A_ENST00000542213.1_Intron Q9UNH5 CC14A_HUMAN cell division cycle 14A 10 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AACTAATCGGGGCTTGTGAGT 0.627000 18 49 6.33239e-15 8.02102e-15 0.010504 1 0 FGF6 2251 broad.mit.edu 37 12 4553372 4553372 + Missense_Mutation SNP C C T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr12:4553372C>T ENST00000228837.2 - 2 420 c.377G>A c.(376-378)gGc>gAc p.G126D NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 126 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) ACTCACCACGCCTCGCTCCAC 0.542000 21 41 0 0 0.002780 0 0 RRM1 6240 broad.mit.edu 37 11 4159521 4159521 + Missense_Mutation SNP G G A rs112706528 TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr11:4159521G>A ENST00000300738.5 + 19 2491 c.2287G>A c.(2287-2289)Gta>Ata p.V763I RRM1_ENST00000537197.1_Missense_Mutation_p.V425I|RRM1_ENST00000534285.1_Missense_Mutation_p.V541I|RRM1_ENST00000423050.2_Missense_Mutation_p.V666I NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 763 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) TAAAGAAAAGGTATCAAAAGA 0.418000 17 55 0 0 0.006122 0 0 C7orf34 135927 broad.mit.edu 37 7 142637545 142637545 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr7:142637545G>A ENST00000409607.3 + 2 356 c.315G>A c.(313-315)acG>acA p.T105T NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 80 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) CGTCCAAGACGGCAGCTGTTC 0.532000 48 174 0 0 0.014410 0 0 ULBP1 80329 broad.mit.edu 37 6 150289853 150289853 + Missense_Mutation SNP T T A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr6:150289853T>A ENST00000229708.2 + 2 239 c.196T>A c.(196-198)Tgt>Agt p.C66S ULBP1_ENST00000367345.1_Missense_Mutation_p.C66S NM_025218.2 NP_079494.1 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 66 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TCACTATGACTGTGTTAACCA 0.453000 60 71 0 0 0.014410 0 0 PLEK 5341 broad.mit.edu 37 2 68620306 68620306 + Missense_Mutation SNP A A G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr2:68620306A>G ENST00000234313.7 + 7 954 c.775A>G c.(775-777)Aaa>Gaa p.K259E NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 259 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GCATAGAAGGAAAAACTGGAA 0.433000 51 127 0 0 0.014410 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 5 24 0 0 0.001984 0 0 VGLL3 389136 broad.mit.edu 37 3 87027678 87027678 + Missense_Mutation SNP C C T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr3:87027678C>T ENST00000398399.2 - 2 764 c.401G>A c.(400-402)cGa>cAa p.R134Q VGLL3_ENST00000383698.3_Missense_Mutation_p.R134Q NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) ATTCTTACCTCGCCATAGGGG 0.502000 34 97 0 0 0.003271 0 0 SOGA2 23255 broad.mit.edu 37 18 8821483 8821483 + Missense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr18:8821483G>A ENST00000359865.3 + 14 3317 c.3175G>A c.(3175-3177)Gga>Aga p.G1059R SOGA2_ENST00000306285.7_Missense_Mutation_p.G384R|SOGA2_ENST00000518815.1_Missense_Mutation_p.G384R|SOGA2_ENST00000517570.1_Missense_Mutation_p.G1018R|SOGA2_ENST00000400050.3_Missense_Mutation_p.G1018R|SOGA2_ENST00000306329.11_Missense_Mutation_p.G1378R NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1369 AAATCACAAAGGAAATCTTCA 0.299000 11 32 0 0 0.010729 0 0 TP53BP1 7158 broad.mit.edu 37 15 43714318 43714318 + Nonsense_Mutation SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr15:43714318C>A ENST00000263801.3 - 19 4072 c.3820G>T c.(3820-3822)Gaa>Taa p.E1274* TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E1279* NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1274 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ATTGGCTCTTCAGTCTCCTGC 0.433000 Other conserved DNA damage response genes 28 56 1.88708e-17 2.43082e-17 0.008361 1 0 FAM120A 23196 broad.mit.edu 37 9 96326729 96326729 + Silent SNP C C T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr9:96326729C>T ENST00000277165.6 + 18 3458 c.3264C>T c.(3262-3264)tgC>tgT p.C1088C FAM120A_ENST00000333936.5_Silent_p.C1116C|FAM120A_ENST00000340893.4_Silent_p.C1042C NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 1088 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTAAAACGTGCAATACAAATC 0.502000 10 171 0 0 0.001855 0 0 SERPINB3 6317 broad.mit.edu 37 18 61326675 61326675 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr18:61326675G>A ENST00000283752.5 - 4 452 c.309C>T c.(307-309)atC>atT p.I103I SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.I103I NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 103 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 GCTTGTTGGCGATCTTCAGCT 0.398000 28 89 0 0 0.004656 0 0 ZNF362 149076 broad.mit.edu 37 1 33745746 33745746 + Missense_Mutation SNP C C T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr1:33745746C>T ENST00000539719.1 + 5 541 c.371C>T c.(370-372)aCc>aTc p.T124I ZNF362_ENST00000373428.5_Missense_Mutation_p.T124I NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCCACCCGGACCCCGTCTGTG 0.682000 12 58 0 0 0.013537 0 0 TMEM27 57393 broad.mit.edu 37 X 15682843 15682843 + Missense_Mutation SNP G G C TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chrX:15682843G>C ENST00000380342.3 - 1 311 c.56C>G c.(55-57)cCa>cGa p.P19R NM_020665.4 NP_065716.1 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 19 proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity endometrium(3)|lung(4)|ovary(1) 8 Hepatocellular(33;0.183) CTACATACCTGGTTGACAGAG 0.363000 33 63 0 0 0.004289 0 0 WDFY3 23001 broad.mit.edu 37 4 85612794 85612794 + Missense_Mutation SNP T T A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr4:85612794T>A ENST00000322366.6 - 59 9550 c.9143A>T c.(9142-9144)gAg>gTg p.E3048V WDFY3_ENST00000295888.4_Missense_Mutation_p.E3065V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3065 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTTGTCTGACTCATAGGTTCC 0.438000 28 52 0 0 0.012213 0 0 GH2 2689 broad.mit.edu 37 17 61957625 61957625 + Missense_Mutation SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr17:61957625C>A ENST00000456543.2 - 5 746 c.706G>T c.(706-708)Gtg>Ttg p.V236L GH2_ENST00000423893.2_3'UTR|GH2_ENST00000449787.2_3'UTR|GH2_ENST00000332800.7_3'UTR P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TGGAGTAGCACCTTCCACGAC 0.557000 12 25 1.08611e-07 1.21389e-07 0.010729 1 0 NOS1 4842 broad.mit.edu 37 12 117705872 117705872 + Silent SNP A A G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr12:117705872A>G ENST00000317775.6 - 11 2602 c.1917T>C c.(1915-1917)aaT>aaC p.N639N NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.N639N NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 639 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GAACCGCGATATTGATCTCCA 0.512000 29 62 0 0 0.010818 0 0 PSD3 23362 broad.mit.edu 37 8 18725328 18725328 + Nonsense_Mutation SNP G G C TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr8:18725328G>C ENST00000440756.2 - 4 1592 c.1490C>G c.(1489-1491)tCa>tGa p.S497* PSD3_ENST00000327040.8_Nonsense_Mutation_p.S497*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.S432* Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 497 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TCCTCCCCCTGATGTCCTCTC 0.488000 74 180 0 0 0.014410 0 0 MROH2B 133558 broad.mit.edu 37 5 41055887 41055887 + Silent SNP T T A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr5:41055887T>A ENST00000399564.4 - 10 1440 c.990A>T c.(988-990)cgA>cgT p.R330R MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGATTCCCACTCGAATGGCTT 0.413000 40 88 0 0 0.011902 0 0 ZNF831 128611 broad.mit.edu 37 20 57829784 57829784 + Missense_Mutation SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr20:57829784G>A ENST00000371030.2 + 5 5020 c.5020G>A c.(5020-5022)Gtt>Att p.V1674I NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1674 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGACCGATTAGTTATAGAAAT 0.443000 15 78 0 0 0.004007 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 60 0 0 0.000602 0 0 AADACL4 343066 broad.mit.edu 37 1 12711261 12711261 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr1:12711261G>A ENST00000376221.1 + 2 288 c.288G>A c.(286-288)acG>acA p.T96T NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 96 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GTTTTGGGACGATACCCGTGA 0.517000 31 53 0 0 0.009535 0 0 LINC00922 0 broad.mit.edu 37 16 65319330 65319330 + RNA SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr16:65319330G>A ENST00000569736.1 - 0 831 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 AATGCTTGGCGGTCTTGTGTG 0.517000 14 60 0 0 0.004990 0 0 FSTL5 56884 broad.mit.edu 37 4 162463805 162463805 + Silent SNP T T C TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr4:162463805T>C ENST00000306100.5 - 9 1492 c.1056A>G c.(1054-1056)agA>agG p.R352R FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Silent_p.R351R|FSTL5_ENST00000427802.2_Silent_p.R351R|FSTL5_ENST00000379164.4_Silent_p.R351R NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 352 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCCCAGGCTCTCTAGCCTGAC 0.423000 33 78 0 0 0.005524 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 53 0 0 0.004672 0 0 OR8K1 390157 broad.mit.edu 37 11 56113589 56113589 + Missense_Mutation SNP C C A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr11:56113589C>A ENST00000279783.2 + 1 169 c.75C>A c.(73-75)gaC>gaA p.D25E NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) GGATTACAGACAACCCTGGGC 0.443000 HNSCC(65;0.19) 15 65 2.89027e-11 3.43219e-11 0.014323 1 0 KIAA0368 23392 broad.mit.edu 37 9 114246646 114246646 + Silent SNP A A C TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr9:114246646A>C ENST00000259335.4 - 2 266 c.267T>G c.(265-267)ccT>ccG p.P89P NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 GCCTGTCCAAAGGAAGAGACG 0.697000 9 24 0 0 0.010729 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409664 69409664 + Missense_Mutation SNP A A G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr2:69409664A>G ENST00000303714.4 + 16 1547 c.1225A>G c.(1225-1227)Aag>Gag p.K409E NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 409 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AGAAGGTGCTAAGTTGGAAAA 0.433000 Familial Infantile Hemangioma 23 46 0 0 0.014323 0 0 TLN1 7094 broad.mit.edu 37 9 35714763 35714763 + Missense_Mutation SNP G G C TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr9:35714763G>C ENST00000314888.9 - 22 3218 c.2865C>G c.(2863-2865)agC>agG p.S955R TLN1_ENST00000540444.1_Missense_Mutation_p.S955R NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 955 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTACCTTGCAGCTCTGCACCA 0.597000 11 184 0 0 0.010729 0 0 GABRG2 0 broad.mit.edu 37 5 161580182 161580182 + Silent SNP C C T TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr5:161580182C>T ENST00000356592.3 + 10 1696 c.1236C>T c.(1234-1236)taC>taT p.Y412Y GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 404 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATGAAGAGTACGGCTATGAGT 0.488000 7 131 0 0 0.001984 0 0 NANOGP1 0 broad.mit.edu 37 12 8048160 8048160 + RNA SNP C C G TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr12:8048160C>G ENST00000607111.1 + 0 88 kidney(1)|lung(4)|prostate(1) 6 CCCACTACTGCAGAGAAGAGT 0.478000 33 89 0 0 0.003271 0 0 DAB1 1600 broad.mit.edu 37 1 57756661 57756661 + Silent SNP G G A TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr1:57756661G>A ENST00000371236.2 - 2 305 c.42C>T c.(40-42)agC>agT p.S14S DAB1_ENST00000414851.2_Silent_p.S14S|DAB1_ENST00000371234.4_Silent_p.S14S|DAB1_ENST00000439789.2_Silent_p.S14S|DAB1_ENST00000371231.1_Silent_p.S14S|DAB1_ENST00000420954.2_Silent_p.S14S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Silent_p.S14S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 14 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTTCTTGGCGCTGGTTTTCA 0.443000 27 64 0 0 0.006320 0 0 PCDHB1 0 broad.mit.edu 37 5 140431875 140431875 + Frame_Shift_Del DEL A A - TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr5:140431875delA ENST00000306549.3 + 1 897 c.820delA c.(820-822)acfs p.N274fs NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 274 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGGGCACCAACAAAGCGAT 0.512 14 47 --- --- --- --- RP11-266K4.9 0 broad.mit.edu 37 12 8388128 8388129 + RNA DEL AG AG - TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr12:8388128_8388129delAG ENST00000304751.9 + 0 118_119 FAM86FP_ENST00000427893.2_RNA GCGGGAGGAAAGGGGACCGTGT 0.629 8 30 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 7 310 --- --- --- --- GDPD3 79153 broad.mit.edu 37 16 30119725 30119725 + Frame_Shift_Del DEL G G - TCGA-CS-5397-01A-01D-1893-08 TCGA-CS-5397-10A-03D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9932b51d-ebd9-4cbc-8c8c-83a5661a16c0 41c76fb1-1c57-4b6b-92f9-835ea17dbe23 g.chr16:30119725delG ENST00000406256.3 - 8 1113 c.736delC c.(736-738)tgfs p.L246fs RP11-455F5.4_ENST00000566190.1_RNA NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 246 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 AACTGGTTCAGGCAAGAGCAG 0.577 128 214 --- --- --- ---