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 CHRNA2 0 broad.mit.edu 37 8 27324815 27324815 + Missense_Mutation SNP A A G TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr8:27324815A>G ENST00000407991.1 - 5 988 c.380T>C c.(379-381)tTt>tCt p.F127S CHRNA2_ENST00000520933.2_Missense_Mutation_p.F127S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.F112S NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 127 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GATGTTGCCAAAATCAGTGGG 0.542000 3 29 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511927 60511927 + Missense_Mutation SNP T T C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr20:60511927T>C ENST00000360469.5 + 16 2765 c.2677T>C c.(2677-2679)Tac>Cac p.Y893H CDH4_ENST00000543233.1_Missense_Mutation_p.Y819H NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 893 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGACCAAGACTACGATTACCT 0.587000 3 26 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179192842 179192842 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr5:179192842G>A ENST00000292599.3 + 2 1094 c.831G>A c.(829-831)gaG>gaA p.E277E MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 277 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTTCGAGGAGAAGAAGGACC 0.507000 5 60 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57553666 57553666 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr12:57553666G>A ENST00000243077.3 + 12 2323 c.1857G>A c.(1855-1857)acG>acA p.T619T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 619 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTACTGGACGGACGATGGGC 0.552000 4 57 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85669491 85669491 + Silent SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr15:85669491C>T ENST00000310298.4 + 21 2391 c.2139C>T c.(2137-2139)aaC>aaT p.N713N PDE8A_ENST00000557957.1_Silent_p.N641N|PDE8A_ENST00000394553.1_Silent_p.N713N|PDE8A_ENST00000339708.5_Silent_p.N667N O60658 PDE8A_HUMAN phosphodiesterase 8A 713 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CTCCAGAGAACCGGACCCTAA 0.463000 3 49 0 0 1 0 0 PRMT10 90826 broad.mit.edu 37 4 148579090 148579090 + Missense_Mutation SNP T T A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr4:148579090T>A ENST00000322396.6 - 8 1425 c.1183A>T c.(1183-1185)Att>Ttt p.I395F PRMT10_ENST00000541232.1_Missense_Mutation_p.I282F|TMEM184C_ENST00000508208.1_Intron NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 395 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 GGAATACCAATCTTATCAGGC 0.333000 3 19 0 0 1 0 0 C11orf58 10944 broad.mit.edu 37 11 16760369 16760369 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr11:16760369C>T ENST00000228136.4 + 1 422 c.44C>T c.(43-45)tCa>tTa p.S15L C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.S15L O00193 SMAP_HUMAN chromosome 11 open reading frame 58 15 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 GTGAAGCGTTCAGCCTCCCCA 0.597000 3 35 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049454 90049454 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr1:90049454G>A ENST00000330947.2 + 5 1605 c.1245G>A c.(1243-1245)gtG>gtA p.V415V RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.V415V|LRRC8B_ENST00000358200.4_Silent_p.V415V NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 415 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GTAAGCTTGTGAAAAATGCCC 0.403000 4 54 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104309838 104309838 + Silent SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr10:104309838C>T ENST00000369902.3 + 3 595 c.429C>T c.(427-429)ggC>ggT p.G143G SUFU_ENST00000369899.2_Silent_p.G143G|SUFU_ENST00000423559.2_Silent_p.G143G NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 143 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) TAATGCAGGGCTTGGCACGAT 0.537000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 4 41 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133868563 133868563 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr7:133868563C>T ENST00000285928.2 + 11 1361 c.1292C>T c.(1291-1293)gCc>gTc p.A431V NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 431 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CGAGAGCTTGCCCATCGCCTC 0.468000 6 103 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114163300 114163300 + Silent SNP A A C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr4:114163300A>C ENST00000357077.4 + 9 879 c.826A>C c.(826-828)Aga>Cga p.R276R ANK2_ENST00000264366.6_Silent_p.R276R|ANK2_ENST00000394537.3_Silent_p.R276R|ANK2_ENST00000506722.1_Silent_p.R255R NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 276 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGCTTCCAAAAGAGGAAATAC 0.453000 14 31 0 0 1 0 0 CDRT4 284040 broad.mit.edu 37 17 15341130 15341130 + Missense_Mutation SNP C C T rs139647100 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr17:15341130C>T ENST00000312177.6 - 4 696 c.416G>A c.(415-417)cGc>cAc p.R139H TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR NM_001204477.1 NP_001191406.1 Q8N9R6 CDRT4_HUMAN CMT1A duplicated region transcript 4 139 endometrium(3)|skin(1) 4 UCEC - Uterine corpus endometrioid carcinoma (92;0.0874) CATAGGCTTGCGGGCAAAGAT 0.488000 3 31 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15484823 15484823 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr19:15484823C>T ENST00000269701.2 - 4 205 c.145G>A c.(145-147)Gca>Aca p.A49T NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 49 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CTGTAGGTTGCGCCTGTGGTG 0.632000 3 48 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 36 0 0 1 0 0 CHRNA2 0 broad.mit.edu 37 8 27324815 27324815 + Missense_Mutation SNP A A G TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr8:27324815A>G ENST00000407991.1 - 5 988 c.380T>C c.(379-381)tTt>tCt p.F127S CHRNA2_ENST00000240132.2_Missense_Mutation_p.F112S|CHRNA2_ENST00000520933.2_Missense_Mutation_p.F127S NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 127 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GATGTTGCCAAAATCAGTGGG 0.542000 3 29 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511927 60511927 + Missense_Mutation SNP T T C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr20:60511927T>C ENST00000360469.5 + 16 2765 c.2677T>C c.(2677-2679)Tac>Cac p.Y893H CDH4_ENST00000543233.1_Missense_Mutation_p.Y819H NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 893 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGACCAAGACTACGATTACCT 0.587000 3 26 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179192842 179192842 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr5:179192842G>A ENST00000292599.3 + 2 1094 c.831G>A c.(829-831)gaG>gaA p.E277E MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 277 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTTCGAGGAGAAGAAGGACC 0.507000 5 60 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57553666 57553666 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr12:57553666G>A ENST00000243077.3 + 12 2323 c.1857G>A c.(1855-1857)acG>acA p.T619T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 619 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTACTGGACGGACGATGGGC 0.552000 4 57 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85669491 85669491 + Silent SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr15:85669491C>T ENST00000310298.4 + 21 2391 c.2139C>T c.(2137-2139)aaC>aaT p.N713N PDE8A_ENST00000339708.5_Silent_p.N667N|PDE8A_ENST00000394553.1_Silent_p.N713N|PDE8A_ENST00000557957.1_Silent_p.N641N O60658 PDE8A_HUMAN phosphodiesterase 8A 713 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CTCCAGAGAACCGGACCCTAA 0.463000 3 49 0 0 1 0 0 PRMT10 90826 broad.mit.edu 37 4 148579090 148579090 + Missense_Mutation SNP T T A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr4:148579090T>A ENST00000322396.6 - 8 1425 c.1183A>T c.(1183-1185)Att>Ttt p.I395F PRMT10_ENST00000541232.1_Missense_Mutation_p.I282F|TMEM184C_ENST00000508208.1_Intron NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 395 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 GGAATACCAATCTTATCAGGC 0.333000 3 19 0 0 1 0 0 C11orf58 10944 broad.mit.edu 37 11 16760369 16760369 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr11:16760369C>T ENST00000228136.4 + 1 422 c.44C>T c.(43-45)tCa>tTa p.S15L C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.S15L O00193 SMAP_HUMAN chromosome 11 open reading frame 58 15 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 GTGAAGCGTTCAGCCTCCCCA 0.597000 3 35 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104309838 104309838 + Silent SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr10:104309838C>T ENST00000369902.3 + 3 595 c.429C>T c.(427-429)ggC>ggT p.G143G SUFU_ENST00000423559.2_Silent_p.G143G|SUFU_ENST00000369899.2_Silent_p.G143G NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 143 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) TAATGCAGGGCTTGGCACGAT 0.537000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 4 41 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133868563 133868563 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr7:133868563C>T ENST00000285928.2 + 11 1361 c.1292C>T c.(1291-1293)gCc>gTc p.A431V NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 431 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CGAGAGCTTGCCCATCGCCTC 0.468000 6 103 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114163300 114163300 + Silent SNP A A C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr4:114163300A>C ENST00000357077.4 + 9 879 c.826A>C c.(826-828)Aga>Cga p.R276R ANK2_ENST00000394537.3_Silent_p.R276R|ANK2_ENST00000264366.6_Silent_p.R276R|ANK2_ENST00000506722.1_Silent_p.R255R NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 276 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGCTTCCAAAAGAGGAAATAC 0.453000 14 31 0 0 1 0 0 CDRT4 284040 broad.mit.edu 37 17 15341130 15341130 + Missense_Mutation SNP C C T rs139647100 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr17:15341130C>T ENST00000312177.6 - 4 696 c.416G>A c.(415-417)cGc>cAc p.R139H TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR NM_001204477.1 NP_001191406.1 Q8N9R6 CDRT4_HUMAN CMT1A duplicated region transcript 4 139 endometrium(3)|skin(1) 4 UCEC - Uterine corpus endometrioid carcinoma (92;0.0874) CATAGGCTTGCGGGCAAAGAT 0.488000 3 31 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15484823 15484823 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr19:15484823C>T ENST00000269701.2 - 4 205 c.145G>A c.(145-147)Gca>Aca p.A49T NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 49 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CTGTAGGTTGCGCCTGTGGTG 0.632000 3 48 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 36 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049454 90049454 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr1:90049454G>A ENST00000330947.2 + 5 1605 c.1245G>A c.(1243-1245)gtG>gtA p.V415V LRRC8B_ENST00000439853.1_Silent_p.V415V|LRRC8B_ENST00000358200.4_Silent_p.V415V|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 415 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GTAAGCTTGTGAAAAATGCCC 0.403000 4 54 0 0 1 0 0 RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 4 3 --- --- --- --- ATG9B 285973 broad.mit.edu 37 7 150721483 150721484 + Frame_Shift_Ins INS - - C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a 07a372e2-5e4e-4451-94ac-86db0153a21f g.chr7:150721483_150721484insC ENST00000605938.1 - 1 102_103 c.27_28insG c.(25-30)gggaagfs p.K10fs ATG9B_ENST00000377974.2_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.K10fs NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 10 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCTTCTTCTCCCCCCCCAGC 0.644 2 4 --- --- --- --- ATG9B 285973 broad.mit.edu 37 7 150721483 150721484 + Frame_Shift_Ins INS - - C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr7:150721483_150721484insC ENST00000605938.1 - 1 102_103 c.27_28insG c.(25-30)gggaagfs p.K10fs ATG9B_ENST00000377974.2_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.K10fs NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 10 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCTTCTTCTCCCCCCCCAGC 0.644 2 4 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 8 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65748002 65748005 + RNA DEL TTTT TTTT - rs1760975 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr14:65748002_65748005delTTTT ENST00000553754.1 - 0 300 TCTTTCtttctttttttttttttt 0.485 2 4 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 3 3 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 2 4 --- --- --- ---