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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 139 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9402051 9402051 + Missense_Mutation SNP G G C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr20:9402051G>C ENST00000378501.2 + 23 2241 c.2226G>C c.(2224-2226)atG>atC p.M742I PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M742I|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 742 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GAACTCGCATGGTTATGAATA 0.403000 6 91 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85570403 85570403 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr2:85570403G>A ENST00000295802.4 - 11 1907 c.1795C>T c.(1795-1797)Ctt>Ttt p.L599F RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 599 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CTAGAATCAAGATTCTTAAGG 0.532000 4 88 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42852594 42852594 + Missense_Mutation SNP G G C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:42852594G>C ENST00000200557.6 + 15 1404 c.1235G>C c.(1234-1236)cGc>cCc p.R412P ADAM11_ENST00000535346.1_Missense_Mutation_p.R212P NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 412 Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) TACCTGCCCCGCAAGTTCTCG 0.642000 OREG0024464 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 56 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2936617 2936617 + Silent SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chrX:2936617C>T ENST00000381130.2 + 5 807 c.807C>T c.(805-807)caC>caT p.H269H NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 269 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCTTCCTGCACGTACATACTC 0.398000 21 20 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12446347 12446347 + Missense_Mutation SNP A A G rs144706588 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr1:12446347A>G ENST00000358136.3 + 60 11718 c.11588A>G c.(11587-11589)cAg>cGg p.Q3863R VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3862 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACTATACACAGCTGGCAACC 0.438000 27 51 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 57 0 0 1 0 0 DMRT2 10655 broad.mit.edu 37 9 1057164 1057164 + Missense_Mutation SNP T T C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr9:1057164T>C ENST00000382251.3 + 5 1906 c.1577T>C c.(1576-1578)tTt>tCt p.F526S DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.F526S Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 526 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) AAAGACCTTTTTGTAGCCAAA 0.403000 52 57 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 34046652 34046652 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr22:34046652C>T ENST00000354992.2 - 4 680 c.109G>A c.(109-111)Gga>Aga p.G37R LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000462606.1_5'UTR NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 37 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ACGGGCTTTCCATCTGGGGAG 0.617000 5 28 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51376765 51376765 + Silent SNP C C A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr14:51376765C>A ENST00000216392.7 - 17 2357 c.2025G>T c.(2023-2025)tcG>tcT p.S675S PYGL_ENST00000532462.1_Silent_p.S675S|PYGL_ENST00000544180.2_Silent_p.S641S NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 675 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TGCCTGTCCCCGAGGCTTCGG 0.478000 9 127 2.52707e-12 2.63938e-12 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22662971 22662971 + RNA SNP A A G TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr22:22662971A>G ENST00000426066.1 + 0 500 NR_027293.1 TGTAAGTAAAATTCACTTTGG 0.323000 3 16 0 0 1 0 0 KRT19 3880 broad.mit.edu 37 17 39680513 39680513 + Missense_Mutation SNP T T A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:39680513T>A ENST00000361566.3 - 5 890 c.830A>T c.(829-831)gAa>gTa p.E277V NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) CCGGTTCAATTCTTCAGTCTG 0.572000 4 45 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101133846 101133846 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr9:101133846G>A ENST00000259455.2 - 12 2129 c.1670C>T c.(1669-1671)aCc>aTc p.T557I NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 557 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GAGAATCCAGGTCCTGACCTA 0.488000 10 17 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559027 1559027 + Silent SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr20:1559027G>A ENST00000381605.4 - 2 454 c.390C>T c.(388-390)gaC>gaT p.D130D SIRPB1_ENST00000381603.3_Silent_p.D130D|RP4-576H24.4_ENST00000564763.1_Silent_p.D130D|SIRPB1_ENST00000262929.5_Silent_p.D129D NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 130 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TAAACTCCACGTCGTCAGGGC 0.527000 8 124 0 0 1 0 0 ZNF790 388536 broad.mit.edu 37 19 37310530 37310530 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr19:37310530G>A ENST00000356725.4 - 5 836 c.716C>T c.(715-717)tCg>tTg p.S239L CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTAAGACTCGAACGTAAACT 0.348000 29 43 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 4 49 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101890183 101890183 + Missense_Mutation SNP A A T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr13:101890183A>T ENST00000251127.6 - 12 1438 c.1357T>A c.(1357-1359)Ttc>Atc p.F453I NALCN_ENST00000376196.3_Missense_Mutation_p.F453I|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 453 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTAGTTCGAATTTGTGGAGA 0.348000 4 172 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104232673 104232673 + Silent SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr10:104232673C>T ENST00000238936.4 + 7 1128 c.891C>T c.(889-891)gaC>gaT p.D297D TMEM180_ENST00000366277.2_Silent_p.D26D NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 297 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGTTGTCCGACCATATCTCCC 0.532000 8 112 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188018 32188018 + Silent SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr6:32188018G>A ENST00000375023.3 - 7 1341 c.1203C>T c.(1201-1203)tgC>tgT p.C401C NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 401 EGF-like 10. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CATCCCCATGGCACGGCTGGC 0.622000 3 37 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577126 7577126 + Missense_Mutation SNP T T A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:7577126T>A ENST00000420246.2 - 8 944 c.812A>T c.(811-813)gAg>gTg p.E271V TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AACACGCACCTCAAAGCTGTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 3 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121237425 121237425 + Silent SNP A A T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr8:121237425A>T ENST00000297848.3 + 15 2106 c.1836A>T c.(1834-1836)tcA>tcT p.S612S COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 612 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGGACAGTCAGAGCCTCTGA 0.418000 37 38 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47835730 47835730 + Missense_Mutation SNP T T C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chrX:47835730T>C ENST00000396965.1 - 7 2106 c.1756A>G c.(1756-1758)Act>Gct p.T586A ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A|ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TGATGTACAGTGAATGTTGAC 0.428000 13 54 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71718413 71718413 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr16:71718413G>A ENST00000393524.2 - 4 1434 c.701C>T c.(700-702)gCc>gTc p.A234V PHLPP2_ENST00000360429.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000568954.1_Missense_Mutation_p.A234V|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A269V Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 234 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CTGGTACTCGGCCAAAGTCTC 0.517000 3 50 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1322992 1322992 + Splice_Site SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr5:1322992C>T ENST00000320895.5 - 13 1572 c.1315_splice c.e13+1 p.G439_splice CLPTM1L_ENST00000320927.6_Splice_Site_p.G403_splice|CLPTM1L_ENST00000507807.1_Splice_Site_p.G270_splice|CLPTM1L_ENST00000506641.1_5'UTR NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 439 apoptosis integral to membrane p.G439W(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) ATGGACTCACCGTTGACGAAG 0.438000 43 96 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 51 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159846529 159846529 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr1:159846529C>T ENST00000426543.2 - 10 1369 c.914G>A c.(913-915)cGg>cAg p.R305Q CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R390Q Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 390 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GCGCTTGGCCCGCAAGGCATC 0.512000 7 42 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211176 59211176 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr11:59211176C>T ENST00000302030.2 + 1 560 c.535C>T c.(535-537)Cac>Tac p.H179Y NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CATCATCAACCACTTCTTCTG 0.542000 89 156 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591846 38591846 + Missense_Mutation SNP G G T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr3:38591846G>T ENST00000413689.1 - 28 6210 c.6017C>A c.(6016-6018)cCt>cAt p.P2006H SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000333535.4_Missense_Mutation_p.P2006H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 2006 P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTCCGGAGAAGGGGGGAAGTC 0.577000 5 43 0.184627 0.184627 1 1 0 BMI1 648 broad.mit.edu 37 10 22615874 22615874 + Nonsense_Mutation SNP T T A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr10:22615874T>A ENST00000376663.3 + 3 673 c.168T>A c.(166-168)tgT>tgA p.C56* COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199* NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 GTCCTATTTGTGATGTCCAAG 0.338000 73 127 0 0 1 0 0 FIGF 2277 broad.mit.edu 37 X 15373392 15373392 + Missense_Mutation SNP G G A rs143510014 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chrX:15373392G>A ENST00000297904.3 - 4 950 c.521C>T c.(520-522)tCa>tTa p.S174L NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 174 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) TTCAGGTACTGATGTCAAAGG 0.368000 5 46 0 0 1 0 0 HSPA1L 0 broad.mit.edu 37 6 31778218 31778218 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr6:31778218C>T ENST00000375654.4 - 2 1721 c.1532G>A c.(1531-1533)cGc>cAc p.R511H HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 511 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CTTGCTCAGGCGGCCCTTGTC 0.483000 5 171 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120568995 120568995 + Silent SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr12:120568995C>T ENST00000300648.6 - 55 7569 c.7557G>A c.(7555-7557)gcG>gcA p.A2519A NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2519 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTACCCTGTCCGCCGTGGCAC 0.582000 7 57 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24761555 24761555 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr22:24761555C>T ENST00000314328.9 + 13 3224 c.2939C>T c.(2938-2940)tCt>tTt p.S980F SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F|KB-1896H10.1_ENST00000358654.2_3'UTR NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 980 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TCCCTGTCCTCTTCTCCAACG 0.512000 10 85 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 43 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39606042 39606042 + Silent SNP T T C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr7:39606042T>C ENST00000432096.2 + 1 38 c.25T>C c.(25-27)Ttg>Ctg p.L9L YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000223273.2_Silent_p.L9L Q9NRH1 CG036_HUMAN Yae1 domain containing 1 9 AGCAGCCTCCTTGATCCAGGG 0.607000 8 33 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 130982360 130982360 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr9:130982360G>A ENST00000341179.7 + 5 775 c.683G>A c.(682-684)cGc>cAc p.R228H DNM1_ENST00000393594.3_Missense_Mutation_p.R228H|DNM1_ENST00000486160.1_Missense_Mutation_p.R228H|DNM1_ENST00000372923.3_Missense_Mutation_p.R228H|DNM1_ENST00000475805.1_Missense_Mutation_p.R228H NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 228 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTCCCCCTGCGCAGAGGTAAG 0.627000 9 17 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 54 0 0 1 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485243 31485243 + Silent SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr16:31485243C>T ENST00000394863.3 + 4 400 c.270C>T c.(268-270)ctC>ctT p.L90L TGFB1I1_ENST00000394858.2_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000567607.1_Silent_p.L73L NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 90 Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GTACCGGGCTCTGTGAGCTAG 0.597000 7 87 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749547 79749547 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr15:79749547G>A ENST00000305428.3 + 2 1133 c.1058G>A c.(1057-1059)cGc>cAc p.R353H NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 353 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GAAGCCAGGCGCTGTCTAGGG 0.512000 6 73 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975659 152975682 + In_Frame_Del DEL GAGCCAGGCTGTACCAAGGTCCCT GAGCCAGGCTGTACCAAGGTCCCT - rs67156933 byFrequency TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT ENST00000331860.3 + 3 313_336 c.163_186delGAGCCAGGCTGTACCAAGGTCCCT c.(163-186)del p.EPGCTKVP95del SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 95 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT 0.562 12 37 --- --- --- --- NAV1 89796 broad.mit.edu 37 1 201617945 201617946 + In_Frame_Ins INS - - CGG TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr1:201617945_201617946insCGG ENST00000367296.4 + 1 569_570 c.149_150insCGG c.(148-150)cgg>cCGGgg p.50_50R>PG NAV1_ENST00000367302.1_In_Frame_Ins_p.63_63R>PG|NAV1_ENST00000367300.3_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000295624.6_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367297.4_In_Frame_Ins_p.50_50R>PG NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 50 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 gccaaggcgcccggcggcggcg 0.782 3 5 --- --- --- --- RP11-767C1.1 0 broad.mit.edu 37 3 12923955 12923955 + RNA DEL C C - TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr3:12923955delC ENST00000448129.1 - 0 353 TGGACAGAGGCCCCCGGCTGC 0.597 2 4 --- --- --- --- ALG1L2 0 broad.mit.edu 37 3 129816992 129816992 + RNA DEL G G - TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr3:129816992delG ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TTGTTGGGTCGGGGAGCTGGG 0.557 2 4 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 12 75 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 5 3 --- --- --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr12:5603608_5603609insC ENST00000423158.3 + 2 479_480 c.267_268insC c.(265-270)ggccgcfs p.R90fs NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 9 60 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 4 9 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 3 4 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 10 136 --- --- --- ---