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 LRRC49 54839 broad.mit.edu 37 15 71300716 71300716 + Splice_Site SNP A A G TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr15:71300716A>G uc010ukf.2 + 12 1491 c.1185_splice c.e12-2 p.G395_splice LRRC49_uc002asu.3_Splice_Site_p.G380_splice|LRRC49_uc002asx.3_Splice_Site_p.G346_splice|LRRC49_uc002asw.3_Splice_Site_p.G390_splice|LRRC49_uc002asy.3_Splice_Site_p.G96_splice|LRRC49_uc002asz.3_Splice_Site_p.G362_splice NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 390 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TGGGTTTTCCAGGCCTCTAGA 0.363000 4 37 0 0 1 0 0 NIPA1 123606 broad.mit.edu 37 15 23048861 23048861 + Missense_Mutation SNP C C G TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr15:23048861C>G uc001yvc.3 - 4 983 c.958G>C c.(958-960)Gag>Cag p.E320Q NIPA1_uc001yvd.3_Missense_Mutation_p.E150Q|NIPA1_uc001yve.3_Missense_Mutation_p.E245Q NM_144599 NP_001135747 Q7RTP0 NIPA1_HUMAN Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA. 320 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) TTGTTCATCTCCCCAAGGTTG 0.478000 12 31 0 0 1 0 0 HIF1A 3091 broad.mit.edu 37 14 62203750 62203750 + Missense_Mutation SNP A A G TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr14:62203750A>G uc021rua.1 + 8 1473 c.1244A>G c.(1243-1245)aAg>aGg p.K415R HIF1A_uc001xfq.2_Missense_Mutation_p.K391R|HIF1A_uc001xfr.2_Missense_Mutation_p.K391R|HIF1A_uc001xfs.2_Missense_Mutation_p.K392R NM_001243084 NP_001230013 Q16665 HIF1A_HUMAN Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 3, mRNA. 391 N-terminal VHL recognition site.|ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) GACAAACTTAAGAAGGAACCT 0.393000 19 25 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24880401 24880401 + Missense_Mutation SNP G G A TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr14:24880401G>A uc001wpf.4 + 4 2852 c.2534G>A c.(2533-2535)cGg>cAg p.R845Q NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 845 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAGAAGAACCGGAGGGTGAGA 0.597000 OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 141 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29121246 29121246 + Missense_Mutation SNP G G C TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr22:29121246G>C uc003adt.1 - 3 630 c.558C>G c.(556-558)caC>caG p.H186Q CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.H143Q|CHEK2_uc003adu.1_Missense_Mutation_p.H143Q|CHEK2_uc003adv.1_Missense_Mutation_p.H143Q|CHEK2_uc003adx.1_5'UTR NM_001005735 NP_001005735 O96017 CHK2_HUMAN Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA. 143 DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AAATCCGAAAGTGTTTCTTGC 0.373000 F breast Direct reversal of damage;Other conserved DNA damage response genes 39 5 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 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 16 37 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18840835 18840835 + Nonsense_Mutation SNP C C A TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr10:18840835C>A uc010qcp.1 - 8 1406 c.988G>T c.(988-990)Gga>Tga p.G330* NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA. 330 RNA binding|methyltransferase activity endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 GGTCTCTGTCCCATTCCACTA 0.428000 24 56 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687720 11687720 + Missense_Mutation SNP C C T TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr17:11687720C>T uc002gne.3 + 40 7993 c.7925C>T c.(7924-7926)gCg>gTg p.A2642V DNAH9_uc010coo.3_Missense_Mutation_p.A1936V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2642 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A2642V(2) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AACTTCCCGGCGTCCCTGCAG 0.547000 76 99 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601916 43601916 + Silent SNP C C T TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr10:43601916C>T uc001jal.3 + 4 1150 c.960C>T c.(958-960)ccC>ccT p.P320P RET_uc001jak.1_Silent_p.P320P|RET_uc010qez.1_Silent_p.P66P NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 320 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CGCTGCTCCCCGGGGACACCT 0.657000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 13 16 0 0 1 0 0 TTPA 7274 broad.mit.edu 37 8 63985561 63985561 + Missense_Mutation SNP C C A TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr8:63985561C>A uc003xux.2 - 1 323 c.291G>T c.(289-291)aaG>aaT p.K97N NM_000370 NP_000361 P49638 TTPA_HUMAN Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA. 97 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) GGTAGCCAGCCTTTAGGAGGC 0.383000 27 35 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49691756 49691756 + Silent SNP C C G TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr3:49691756C>G uc003cxe.4 + 4 4881 c.4767C>G c.(4765-4767)ccC>ccG p.P1589P NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1589 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAACCCAGCCCACCACCCATG 0.627000 26 50 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100230955 100230955 + Missense_Mutation SNP G G C TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr7:100230955G>C uc003uvv.1 - 4 692 c.623C>G c.(622-624)cCc>cGc p.P208R TFR2_uc010lhc.1_5'Flank|TFR2_uc003uvu.1_Missense_Mutation_p.P37R NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 208 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CAGGGTGTTGGGGTGAGCCCT 0.731000 13 15 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152613380 152613380 + Missense_Mutation SNP G G A TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chrX:152613380G>A uc011myn.2 + 1 1950 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M ZNF275_uc004fhg.2_3'UTR|ZNF275_uc022cht.1_Missense_Mutation_p.V350M|ZNF275_uc022chu.1_5'Flank NM_001080485 NP_001073954 A6NFS0 A6NFS0_HUMAN Homo sapiens zinc finger protein 275 (ZNF275), mRNA. 301 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGTGGCCGCGTGTTCAAGAG 0.682000 5 5 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66379023 66379023 + Missense_Mutation SNP C C T TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr1:66379023C>T uc001dcn.3 + 1 217 c.26C>T c.(25-27)aCg>aTg p.T9M PDE4B_uc009war.3_5'UTR|PDE4B_uc001dco.3_Missense_Mutation_p.T9M NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 9 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AGTGTGATGACGGTGATGGCT 0.403000 14 24 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157718364 157718364 + Missense_Mutation SNP T T C TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr1:157718364T>C uc001fre.2 - 9 1497 c.1438A>G c.(1438-1440)Atg>Gtg p.M480V FCRL2_uc001frd.2_Missense_Mutation_p.M227V|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Homo sapiens Fc receptor-like 2 (FCRL2), mRNA. 480 cell-cell signaling integral to membrane|plasma membrane|soluble fraction SH3/SH2 adaptor activity|receptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGCTGCTGCATGCTCCAGACC 0.458000 47 31 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101877481 101877481 + Missense_Mutation SNP G G T TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr7:101877481G>T uc003uys.4 + 21 3743 c.3616G>T c.(3616-3618)Gtg>Ttg p.V1206L CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.V1195L NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1195 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCCCAACAATGTGGAGAAGCT 0.577000 30 42 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 902110 902113 + Frame_Shift_Del DEL GCCT GCCT - TCGA-KS-A4IB-01A-11D-A257-08 TCGA-KS-A4IB-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3724d56-88c0-4852-9cea-315377062ea9 c02af1ba-df99-42e4-a70e-71765a149770 g.chr1:902110_902113delGCCT uc001ace.3 + 1 145_148 c.110_113delGCCT c.(109-114)ggcctgfs p.G37fs PLEKHN1_uc001acd.3_Frame_Shift_Del_p.G37fs|PLEKHN1_uc001acf.3_Frame_Shift_Del_p.G37fs NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 37 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ATGTCGGCCGGCCTGCCGGGCCCC 0.740 5 1 --- --- --- ---