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 CPN2 1370 broad.mit.edu 37 3 194062520 194062520 + Silent SNP G G C TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr3:194062520G>C ENST00000323830.3 - 2 1001 c.912C>G c.(910-912)gtC>gtG p.V304V CPN2_ENST00000429275.1_Silent_p.V304V NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 304 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGCCCTCAGCGACAGTCTCCA 0.602000 18 72 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587695 247587695 + Missense_Mutation SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr1:247587695C>T ENST00000366497.2 + 4 1730 c.950C>T c.(949-951)cCg>cTg p.P317L NLRP3_ENST00000336119.3_Missense_Mutation_p.P317L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P317L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.P317L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P317L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P317L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 317 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CACATAGGACCGCTCTGCACT 0.567000 39 110 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348604 10348604 + Missense_Mutation SNP C C T rs144889690 byFrequency TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:10348604C>T ENST00000255381.2 - 36 5355 c.5245G>A c.(5245-5247)Gtc>Atc p.V1749I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1749 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTTCCTGGACGATGTCCTCC 0.468000 50 95 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 123 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127448571 127448571 + Silent SNP G G A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr5:127448571G>A ENST00000262461.2 + 2 1011 c.822G>A c.(820-822)acG>acA p.T274T SLC12A2_ENST00000343225.4_Silent_p.T274T NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 274 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGTGGTCACGTATACTGCAG 0.368000 4 90 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293706 94293706 + Missense_Mutation SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr7:94293706C>T ENST00000482108.1 + 2 1317 c.838C>T c.(838-840)Cgc>Tgc p.R280C PEG10_ENST00000488574.1_Missense_Mutation_p.R280C NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 280 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGCCCGCATGCGCCTGACGCA 0.602000 3 25 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64422286 64422286 + Missense_Mutation SNP A A G TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr6:64422286A>G ENST00000262043.3 + 16 5142 c.4802A>G c.(4801-4803)cAa>cGa p.Q1601R PHF3_ENST00000393387.1_Missense_Mutation_p.Q1601R Q92576 PHF3_HUMAN PHD finger protein 3 1601 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CAGGAAGATCAAGAGAATAAT 0.333000 16 33 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77134067 77134067 + Silent SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr18:77134067C>T ENST00000426216.2 + 28 3257 c.3240C>T c.(3238-3240)taC>taT p.Y1080Y ATP9B_ENST00000307671.7_Silent_p.Y1080Y|ATP9B_ENST00000543761.1_Silent_p.Y401Y NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 1080 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TAGGCTGCTACGTGTCCTCAC 0.478000 17 47 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 5 87 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 155 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 1028592 1028592 + Missense_Mutation SNP G G C TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:1028592G>C ENST00000544583.2 - 2 633 c.34C>G c.(34-36)Ccg>Gcg p.P12A ABR_ENST00000302538.5_Missense_Mutation_p.P58A|ABR_ENST00000574437.1_Missense_Mutation_p.P12A NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 58 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CTGAGCTGCGGGGACATGGTG 0.672000 43 143 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 4 24 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10436665 10436665 + Missense_Mutation SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:10436665C>T ENST00000245503.5 - 21 2762 c.2378G>A c.(2377-2379)cGa>cAa p.R793Q MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R793Q|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 793 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GGCCTGGGTTCGGGTAATCAG 0.473000 19 59 0 0 1 0 0 TUBB4B 10383 broad.mit.edu 37 9 140137629 140137629 + Missense_Mutation SNP G G A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr9:140137629G>A ENST00000340384.4 + 4 1107 c.959G>A c.(958-960)cGc>cAc p.R320H NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 320 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding TTCAGGGGCCGCATGTCCATG 0.542000 4 134 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10085520 10085520 + Missense_Mutation SNP A A G TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr3:10085520A>G ENST00000287647.3 + 14 1199 c.1106A>G c.(1105-1107)gAa>gGa p.E369G FANCD2_ENST00000383806.1_Missense_Mutation_p.E369G|FANCD2_ENST00000383807.1_Missense_Mutation_p.E369G|FANCD2_ENST00000419585.1_Missense_Mutation_p.E369G NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 369 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CAGGCAATTGAAAACACTGCC 0.388000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 17 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 1028598 1028598 + Missense_Mutation SNP T T A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:1028598T>A ENST00000544583.2 - 2 627 c.28A>T c.(28-30)Atg>Ttg p.M10L ABR_ENST00000302538.5_Missense_Mutation_p.M56L|ABR_ENST00000574437.1_Missense_Mutation_p.M10L NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 56 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TGCGGGGACATGGTGGGCGAC 0.672000 45 153 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35474051 35474051 + Splice_Site SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr6:35474051C>T ENST00000229771.6 - 9 907 c.828_splice c.e9+1 p.A276_splice TULP1_ENST00000322263.4_Splice_Site_p.A223_splice NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 276 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GACAACTCACCGCTTTCTGTG 0.687000 5 7 0 0 1 0 0 GABRB2 0 broad.mit.edu 37 5 160721230 160721230 + Missense_Mutation SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr5:160721230C>T ENST00000274547.2 - 11 1614 c.1397G>A c.(1396-1398)cGc>cAc p.R466H GABRB2_ENST00000393959.1_Missense_Mutation_p.R466H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R428H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R268H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R365H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R428H NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 466 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCTCCTCAGGCGACTTTTCTT 0.517000 22 77 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 70 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94554782 94554782 + Missense_Mutation SNP A A G TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr11:94554782A>G ENST00000433060.2 + 4 1349 c.1208A>G c.(1207-1209)cAc>cGc p.H403R AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.H353R NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 403 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) GGGCCACTGCACTCTGTCTCC 0.667000 10 28 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46510652 46510652 + Missense_Mutation SNP C C T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chrX:46510652C>T ENST00000328306.4 - 10 1265 c.1240G>A c.(1240-1242)Gag>Aag p.E414K NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 414 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 TGTAACACCTCAAAGAGCTGC 0.498000 19 22 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103827403 103827403 + Missense_Mutation SNP G G T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr10:103827403G>T ENST00000299238.5 + 1 2257 c.2172G>T c.(2170-2172)gaG>gaT p.E724D NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 724 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CATTCCCTGAGCCTGGAGCAG 0.617000 Hermansky-Pudlak syndrome 32 46 2.85442e-18 2.92953e-18 1 1 0 SNHG14 0 broad.mit.edu 37 15 25304759 25304759 + RNA SNP G G A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr15:25304759G>A ENST00000549804.2 + 0 152 SNHG14_ENST00000384733.1_RNA TCATACCGTCGTTCTCAGCGG 0.502000 59 162 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 1028596 1028596 + Missense_Mutation SNP C C A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:1028596C>A ENST00000544583.2 - 2 629 c.30G>T c.(28-30)atG>atT p.M10I ABR_ENST00000302538.5_Missense_Mutation_p.M56I|ABR_ENST00000574437.1_Missense_Mutation_p.M10I NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 56 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GCTGCGGGGACATGGTGGGCG 0.667000 46 148 1.86633e-21 1.96722e-21 1 1 0 NF1 4763 broad.mit.edu 37 17 29552216 29552216 + Nonsense_Mutation SNP T T A TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:29552216T>A ENST00000358273.4 + 17 2332 c.1949T>A c.(1948-1950)tTa>tAa p.L650* NF1_ENST00000356175.3_Nonsense_Mutation_p.L650* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 650 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) CATGAAGAATTACTACGTACT 0.423000 """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) 38 119 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32724735 32724735 + Missense_Mutation SNP A A T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr2:32724735A>T ENST00000421745.2 + 46 8724 c.8590A>T c.(8590-8592)Aca>Tca p.T2864S NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2864 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGAATCGGTTACATTTTTAGT 0.443000 9 183 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72748064 72748065 + Frame_Shift_Del DEL CA CA - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr1:72748064_72748065delCA ENST00000357731.4 - 1 352_353 c.113_114delTG c.(112-114)gfs p.V38fs NEGR1_ENST00000434200.1_Frame_Shift_Del_p.V36fs NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 38 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AGGGGAAGTCCACACTCTGTCC 0.614 27 91 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 10 85 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 105918246 105918247 + RNA INS - - T rs145057012 TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr4:105918246_105918247insT ENST00000506386.1 + 0 71 tttttttttccttttttttttt 0.317 3 2 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140061869 140061869 + Frame_Shift_Del DEL G G - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr9:140061869delG ENST00000371561.3 + 20 3804 c.2707delG c.(2707-2709)ggfs p.G905fs GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.G889fs|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.G926fs|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.G868fs|GRIN1_ENST00000315048.3_Intron NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 905 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) ATAGAGCACCGGGGGTGGACG 0.647 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 5 --- --- --- --- RP11-504G3.4 0 broad.mit.edu 37 11 18617298 18617298 + RNA DEL A A - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr11:18617298delA ENST00000541939.1 - 0 379 ACCAGGGAGTAAGGAGAGGGC 0.562 2 4 --- --- --- --- TMEM133 83935 broad.mit.edu 37 11 100863216 100863216 + Frame_Shift_Del DEL C C - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr11:100863216delC ENST00000303130.2 + 1 406 c.177delC c.(175-177)atfs p.I59fs NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 59 integral to membrane kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CTTCCAAAATCAAGACACTTT 0.388 26 104 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 7 340 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 5 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 230 --- --- --- --- UPF3AP2 0 broad.mit.edu 37 17 20279654 20279655 + RNA INS - - T TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:20279654_20279655insT ENST00000578315.1 - 0 51_52 atctgtctctcttttttttttt 0.381 4 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29562657 29562660 + Frame_Shift_Del DEL TGTT TGTT - TCGA-DB-A64O-01A-11D-A29Q-08 TCGA-DB-A64O-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87995eb9-f8be-46af-af12-a5a7276bca3e 75d5cdcb-5e63-4663-a010-007bd579e55d g.chr17:29562657_29562660delTGTT ENST00000358273.4 + 28 4120_4123 c.3737_3740delTGTT c.(3736-3741)ctfs p.LF1246fs NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1246 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)|p.F1247fs*16(1) 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) CTGGTTACTCTGTTTGATTCTCGG 0.412 """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) 62 192 --- --- --- ---