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 SPPL2C 162540 broad.mit.edu 37 17 43923926 43923926 + Missense_Mutation SNP G G A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr17:43923926G>A uc010wka.2 + 0 1671 c.1654G>A c.(1654-1656)Gca>Aca p.A552T MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 552 integral to membrane aspartic-type endopeptidase activity GCAGGAGGGCGCAGCAGATGC 0.612000 3 55 0 0 1 0 0 RAB41 347517 broad.mit.edu 37 X 69502665 69502665 + Missense_Mutation SNP T T C TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chrX:69502665T>C uc010nkv.3 + 2 240 c.194T>C c.(193-195)aTt>aCt p.I65T NM_001032726 NP_001027898 Q5JT25 RAB41_HUMAN Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA. 66 protein transport|small GTPase mediated signal transduction GTP binding breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 ACTGTTGGAATTGACTTCTTG 0.433000 7 201 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64677164 64677164 + Missense_Mutation SNP G G A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr11:64677164G>A uc001obx.3 - 13 2211 c.2096C>T c.(2095-2097)tCc>tTc p.S699F NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 699 protein binding p.S699F(2) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ATGTAGGTCGGAGCAGGTGAG 0.632000 5 115 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4164430 4164430 + Missense_Mutation SNP C C A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr16:4164430C>A uc002cvx.3 - 1 1553 c.1014G>T c.(1012-1014)atG>atT p.M338I NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 338 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGATTCTTGGCATCACGGAAT 0.502000 4 169 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109745340 109745340 + Missense_Mutation SNP T T C TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr4:109745340T>C uc021xqo.1 - 33 1891 c.1835A>G c.(1834-1836)aAg>aGg p.K612R COL25A1_uc003hze.1_Missense_Mutation_p.K612R|COL25A1_uc021xqp.1_Missense_Mutation_p.K612R|COL25A1_uc003hzg.3_Missense_Mutation_p.K612R|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.K400R NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA. 612 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTTTTCTCCCTTTTCTCCTAG 0.438000 3 108 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 95055374 95055374 + Missense_Mutation SNP G G A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr13:95055374G>A uc001vlt.3 + 8 2203 c.1571G>A c.(1570-1572)cGg>cAg p.R524Q NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 524 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GATCCCGACCGGAGAGAGGTG 0.597000 3 122 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 30 70 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019439 131019439 + Silent SNP G G A rs150141269 byFrequency TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr9:131019439G>A uc011maw.2 - 25 2929 c.2916C>T c.(2914-2916)aaC>aaT p.N972N GOLGA2_uc010mxw.3_Silent_p.N295N|GOLGA2_uc004buh.3_Silent_p.N322N|DQ583972_uc022boe.1_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Homo sapiens golgin A2 (GOLGA2), mRNA. 972 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GCTCCCGGGGGTTCTGCATCT 0.592000 3 97 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133402697 133402697 + Missense_Mutation SNP G G A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr2:133402697G>A uc002ttl.3 + 1 1349 c.880G>A c.(880-882)Gta>Ata p.V294I LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 294 integral to plasma membrane G-protein coupled receptor activity|metal ion binding p.V294I(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GACATTGGCCGTATGCTGGAT 0.527000 3 89 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19369470 19369470 + Silent SNP C C T TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chrX:19369470C>T uc004czh.4 + 4 622 c.477C>T c.(475-477)caC>caT p.H159H PDHA1_uc011mjc.2_Silent_p.H128H|PDHA1_uc004czg.4_Silent_p.H121H|PDHA1_uc011mjd.2_Silent_p.H121H NM_001173454 NP_001166925 P08559 ODPA_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 121 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) ACCGGGCTCACGGCTTTACTT 0.517000 11 206 0 0 1 0 0 RNF170 81790 broad.mit.edu 37 8 42716925 42716925 + Missense_Mutation SNP T T G TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr8:42716925T>G uc003xpo.3 - 5 947 c.470A>C c.(469-471)aAt>aCt p.N157T RNF170_uc011lcx.2_Intron|RNF170_uc003xpp.3_Missense_Mutation_p.N61T|RNF170_uc003xpn.3_Missense_Mutation_p.N61T|RNF170_uc010lxp.3_Missense_Mutation_p.N73T|RNF170_uc003xpm.3_Missense_Mutation_p.N157T|RNF170_uc003xpq.4_Missense_Mutation_p.N157T NM_001160223 NP_001153697 Q96K19 RN170_HUMAN Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA. 157 integral to membrane zinc ion binding lung(3) 3 all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GTTATAATCATTAATATCCTG 0.348000 16 64 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3458080 3458080 + Missense_Mutation SNP T T C TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr17:3458080T>C uc002fvr.2 - 1 387 c.65A>G c.(64-66)aAc>aGc p.N22S TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.N22S|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.N22S NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA. 22 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GATGGCAGGGTTCCCACTGGG 0.622000 3 70 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110952238 110952238 + Missense_Mutation SNP G G A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chrX:110952238G>A uc011msy.2 + 4 897 c.796G>A c.(796-798)Gtc>Atc p.V266I ALG13_uc011msw.2_Missense_Mutation_p.V188I|ALG13_uc011msx.2_Missense_Mutation_p.V162I|ALG13_uc011msz.2_Missense_Mutation_p.V188I|ALG13_uc011mta.2_Missense_Mutation_p.V162I|ALG13_uc011mtb.2_Missense_Mutation_p.V162I NM_001099922 NP_001093392 Q9NP73 ALG13_HUMAN Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA. 266 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding endometrium(2)|lung(10)|skin(1) 13 GAAGGCTTGTGTCTCATATAT 0.398000 7 6 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152332842 152332842 + Nonsense_Mutation SNP G G A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr6:152332842G>A uc010kio.3 + 5 1372 c.1154G>A c.(1153-1155)tGg>tAg p.W385* ESR1_uc003qom.4_Nonsense_Mutation_p.W383*|ESR1_uc010kin.3_Nonsense_Mutation_p.W383*|ESR1_uc010kip.3_Nonsense_Mutation_p.W382*|ESR1_uc003qon.4_Nonsense_Mutation_p.W383*|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Nonsense_Mutation_p.W383*|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Nonsense_Mutation_p.W98*|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Nonsense_Mutation_p.W164*|ESR1_uc010kit.1_Intron|ESR1_uc011eey.2_Nonsense_Mutation_p.W120* NM_001122742 NP_001116214 P03372 ESR1_HUMAN Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA. 383 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GAATGTGCCTGGCTAGAGATC 0.488000 3 133 0 0 1 0 0 BRIX1 55299 broad.mit.edu 37 5 34915926 34915926 + Missense_Mutation SNP C C A TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr5:34915926C>A uc003jja.3 + 0 107 c.83C>A c.(82-84)cCg>cAg p.P28Q RAD1_uc003jiw.3_5'Flank|RAD1_uc003jix.3_5'Flank|RAD1_uc003jiy.3_Intron|BRIX1_uc003jiz.3_Missense_Mutation_p.P28Q|BRIX1_uc011col.1_Missense_Mutation_p.P28Q NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA. 28 ribosome biogenesis|translation nucleolus ATP binding|aminoacyl-tRNA ligase activity|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 GATGCGGAGCCGCCAGCTAAG 0.617000 2 5 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52602984 52602985 + Frame_Shift_Del DEL AG AG - TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr13:52602984_52602985delAG uc001vgb.3 + 1 606_607 c.44_45delAG c.(43-45)cagfs p.Q15fs UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q15fs NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA. 15 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TTGAGCCACCAGGAAGAACTAG 0.470 25 46 --- --- --- --- TAT 6898 broad.mit.edu 37 16 71607459 71607459 + Frame_Shift_Del DEL C C - TCGA-DJ-A3UU-01A-11D-A22D-08 TCGA-DJ-A3UU-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e7c62e-b120-41cc-b864-64a2ec29a50f a3c864f4-7c42-4d24-aa7c-1773c3dcc620 g.chr16:71607459delC uc002fap.2 - 3 490 c.391delG c.(391-393)gcafs p.A131fs NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 131 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TCTAGGGGTGCCTCAGGACAG 0.438 2 4 --- --- --- ---