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 ZFP69 339559 broad.mit.edu 37 1 40960881 40960881 + Missense_Mutation SNP A A C TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr1:40960881A>C ENST00000372706.1 + 6 1737 c.731A>C c.(730-732)aAa>aCa p.K244T RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T ZFP69 zinc finger protein AGGCACCATAAATATGATACA 0.318000 3 20 0 0 1 0 0 ADRA2C 152 broad.mit.edu 37 4 3769634 3769634 + Missense_Mutation SNP C C G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr4:3769634C>G ENST00000330055.5 + 1 1510 c.1301C>G c.(1300-1302)cCg>cGg p.P434R ADRA2C_ENST00000509482.1_Intron NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 434 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TCGCTCAACCCGGTCATCTAC 0.597000 3 43 0 0 1 0 0 PTGDR2 11251 broad.mit.edu 37 11 60620871 60620871 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr11:60620871A>G ENST00000332539.4 - 2 436 c.325T>C c.(325-327)Tcc>Ccc p.S109P NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 109 immune response integral to plasma membrane N-formyl peptide receptor activity AAGAAGATGGAGGAGTGCAGT 0.627000 2 11 0 0 1 0 0 TRPV2 51393 broad.mit.edu 37 17 16335412 16335412 + Missense_Mutation SNP C C A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr17:16335412C>A ENST00000338560.7 + 12 2186 c.1787C>A c.(1786-1788)gCc>gAc p.A596D TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 596 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATCCTGGAAGCCTCCTTGGAG 0.632000 7 123 0.0293803 0.0327704 1 1 0 ATF6B 1388 broad.mit.edu 37 6 32083517 32083517 + Silent SNP C C T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr6:32083517C>T ENST00000375201.4 - 18 2147 c.2102G>A c.(2101-2103)tGa>tAa p.*701* ATF6B_ENST00000375203.3_Silent_p.*704* Q99941 ATF6B_HUMAN activating transcription factor 6 beta 0 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TGGCAGAGGTCAGGGATGATT 0.617000 5 161 0 0 1 0 0 ENTPD7 57089 broad.mit.edu 37 10 101464346 101464346 + Missense_Mutation SNP G G A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr10:101464346G>A ENST00000370489.4 + 13 1899 c.1721G>A c.(1720-1722)cGa>cAa p.R574Q CUTC_ENST00000493385.1_Intron NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 574 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CGGCTACGCCGAATTCACCAC 0.547000 5 44 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114514803 114514803 + Missense_Mutation SNP C C T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr13:114514803C>T ENST00000375353.3 + 9 935 c.908C>T c.(907-909)cCc>cTc p.P303L TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B TCTGGGCTTCCCGGCCAGGCT 0.642000 3 129 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 4 87 0 0 1 0 0 TIMM17A 10440 broad.mit.edu 37 1 201926447 201926447 + Missense_Mutation SNP C C T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr1:201926447C>T ENST00000367287.4 + 2 101 c.65C>T c.(64-66)aCg>aTg p.T22M NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) 22 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|lung(3)|stomach(1) 5 GGGGCCTTTACGATGGGTACC 0.418000 3 33 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144469277 144469277 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr4:144469277A>G ENST00000283131.3 + 22 3431 c.2969A>G c.(2968-2970)aAg>aGg p.K990R NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 990 SANT 2. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) TGGTTTCTTAAGTCCAGAACT 0.373000 2 15 0 0 1 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15352025 15352025 + RNA SNP G G T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr21:15352025G>T ENST00000344693.5 - 0 733 NR_027270.1 CCCGCTACCTGTGCTGCTTGT 0.711000 5 57 5.18039e-06 6.5318e-06 1 1 0 FLG2 388698 broad.mit.edu 37 1 152328035 152328035 + Missense_Mutation SNP A A C TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr1:152328035A>C ENST00000388718.5 - 3 2299 c.2227T>G c.(2227-2229)Tct>Gct p.S743A FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 743 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAGCCAGAGGACTGACCT 0.507000 6 412 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr17:47696426A>G ENST00000393331.3 - 7 867 c.397T>C c.(397-399)Ttc>Ctc p.F133L SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448000 Prostate(2;0.17) 5 79 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285852 152285852 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr1:152285852A>G ENST00000368799.1 - 3 1545 c.1510T>C c.(1510-1512)Tcc>Ccc p.S504P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 504 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATGCCTGGAGCTGTCTCGT 0.607000 Ichthyosis 28 648 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471984 47471984 + Missense_Mutation SNP G G T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr12:47471984G>T ENST00000266581.4 - 2 1268 c.802C>A c.(802-804)Cac>Aac p.H268N AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 268 LRRCT. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane p.H268N(2) endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TGACGCGAGTGCCTGGAGTCA 0.478000 5 42 1 1 1 1 0 PLA2G6 8398 broad.mit.edu 37 22 38509530 38509530 + Missense_Mutation SNP A A C TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr22:38509530A>C ENST00000332509.3 - 15 2349 c.2166T>G c.(2164-2166)ttT>ttG p.F722L PLA2G6_ENST00000335539.3_Missense_Mutation_p.F668L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.F668L NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 722 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCTTGGCCCCAAAAACAGTCT 0.622000 3 137 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966530 41966530 + Missense_Mutation SNP G G A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr12:41966530G>A ENST00000298919.7 + 10 1557 c.1169G>A c.(1168-1170)aGc>aAc p.S390N PDZRN4_ENST00000402685.2_Missense_Mutation_p.S650N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S392N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 650 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TACTCAAGCAGCACAATTGAA 0.438000 3 65 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115047194 115047194 + Nonstop_Mutation SNP C C A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr11:115047194C>A ENST00000542447.2 - 9 1373 c.1245G>T c.(1243-1245)taG>taT p.*415Y CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000452722.2_Nonstop_Mutation_p.*443Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 0 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) AAAGGCTGATCTAGATGAAGT 0.418000 7 74 6.40141e-05 7.73504e-05 1 1 0 KIAA2018 205717 broad.mit.edu 37 3 113378681 113378681 + Missense_Mutation SNP A A T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr3:113378681A>T ENST00000316407.4 - 7 2258 c.1848T>A c.(1846-1848)aaT>aaA p.N616K KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 616 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GCACTGAATTATTAGACCCTA 0.448000 5 35 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2111921 2111921 + Missense_Mutation SNP C C A rs137854007 TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr16:2111921C>A ENST00000219476.3 + 12 1799 c.1169C>A c.(1168-1170)aCg>aAg p.T390K TSC2_ENST00000401874.2_Missense_Mutation_p.T390K|TSC2_ENST00000353929.4_Missense_Mutation_p.T390K|TSC2_ENST00000568454.1_Missense_Mutation_p.T401K|TSC2_ENST00000350773.4_Missense_Mutation_p.T390K|TSC2_ENST00000439673.2_Missense_Mutation_p.T353K|TSC2_ENST00000382538.6_Missense_Mutation_p.T341K NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 390 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CTGTTGACCACGGTGGAGGAG 0.587000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 3 126 0.00909568 0.010551 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 3 87 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432916 55432916 + Missense_Mutation SNP C C G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr11:55432916C>G ENST00000314259.3 + 1 303 c.274C>G c.(274-276)Ctc>Gtc p.L92V NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TACCATCTCTCTCAAAGGCTG 0.502000 6 52 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110437366 110437366 + Missense_Mutation SNP C C A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr8:110437366C>A ENST00000378402.5 + 24 2854 c.2750C>A c.(2749-2751)cCa>cAa p.P917Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 917 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATAATTGGCCAGGCGAGTCA 0.338000 HNSCC(38;0.096) 2 6 1 1 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11098839 11098839 + RNA SNP C C T TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr21:11098839C>T ENST00000470054.1 - 0 86 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agacgagccacggtgttacag 0.617000 4 49 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154181822 154181822 + Frame_Shift_Del DEL G G - TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr5:154181822delG ENST00000336314.4 + 11 1765 c.1741delG c.(1741-1743)ggfs p.G582fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 659 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCGGCACCCAGGGGGGGACCG 0.547 7 223 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 9 1 --- --- --- --- CRB2 286204 broad.mit.edu 37 9 126136215 126136216 + Frame_Shift_Ins INS - - G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr9:126136215_126136216insG ENST00000359999.3 + 10 3496_3497 c.3405_3406insG c.(3403-3408)gcggggfs p.AG1135fs CRB2_ENST00000373631.3_Intron|CRB2_ENST00000373629.2_Intron Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 909 EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 ATGGCTGGGCAGGGGGGTGGGC 0.698 3 5 --- --- --- --- NLK 51701 broad.mit.edu 37 17 26370029 26370031 + In_Frame_Del DEL CAC CAC - TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr17:26370029_26370031delCAC ENST00000407008.3 + 1 848_850 c.130_132delCAC c.(130-132)del p.H48del NLK_ENST00000582037.1_In_Frame_Del_p.H48del|NLK_ENST00000583517.1_Intron NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 48 Poly-His. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TCCTCACCTGCACCACCACCACC 0.611 2 4 --- --- --- --- NCAN 1463 broad.mit.edu 37 19 19360601 19360603 + In_Frame_Del DEL CAC CAC - TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr19:19360601_19360603delCAC ENST00000252575.5 + 15 3890_3892 c.3847_3849delCAC c.(3847-3849)del p.H1287del NCAN_ENST00000538881.1_In_Frame_Del_p.H738del NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1287 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GATGCGGCGAcaccaccaccacc 0.596 9 105 --- --- --- --- DGCR5 0 broad.mit.edu 37 22 19010768 19010768 + RNA DEL G G - TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 597e4011-ea99-4356-b1d9-8cfe35db7c3b bf511245-3f97-49f0-9422-c646fa25dba0 g.chr22:19010768delG ENST00000440005.2 + 0 838 CCCTCTCCCTGCCCCCTGCCC 0.672 3 3 --- --- --- ---