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 EPB41L3 23136 broad.mit.edu 37 18 5423443 5423443 + Missense_Mutation SNP G G A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr18:5423443G>A ENST00000341928.2 - 11 1613 c.1273C>T c.(1273-1275)Cgc>Tgc p.R425C EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 425 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GGTGCTGGGCGATCTATCAAC 0.493000 12 49 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30963507 30963507 + Silent SNP C C T rs144528849 TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr21:30963507C>T ENST00000399914.1 - 9 1766 c.1245G>A c.(1243-1245)acG>acA p.T415T GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000399907.1_Silent_p.T430T P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 430 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.T430T(1)|p.T415T(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TGTTGCTGTCCGTCATGTTAA 0.448000 6 175 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134079319 134079319 + Missense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr11:134079319C>T ENST00000534548.2 - 5 684 c.620G>A c.(619-621)cGg>cAg p.R207Q NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 207 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) AGAAAGGTCCCGGGCAGAAAA 0.343000 4 56 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30715429 30715429 + Silent SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr16:30715429C>T ENST00000262518.4 + 4 484 c.99C>T c.(97-99)gcC>gcT p.A33A SRCAP_ENST00000395059.2_Silent_p.A33A|SRCAP_ENST00000344771.4_Silent_p.A33A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 33 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGTCCCCTGCCTCATCCAGTT 0.552000 31 108 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63526188 63526188 + Missense_Mutation SNP G G A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr17:63526188G>A ENST00000307078.5 - 11 2751 c.2438C>T c.(2437-2439)gCc>gTc p.A813V AXIN2_ENST00000375702.5_Missense_Mutation_p.A748V NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 813 DIX. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CGCTCCACAGGCAAACTCATC 0.453000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 4 128 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126185 58126185 + Missense_Mutation SNP G G A rs142474037 TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr11:58126185G>A ENST00000357377.3 - 1 357 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCTGCGTAGCGGTCATAGGCC 0.473000 4 84 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107976000 107976000 + Missense_Mutation SNP G G A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chrX:107976000G>A ENST00000372129.2 - 1 3651 c.3575C>T c.(3574-3576)cCa>cTa p.P1192L NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 1192 Ala-rich. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GTTTGCAGATGGGTTGTGGGC 0.637000 6 130 0 0 1 0 0 RGS16 6004 broad.mit.edu 37 1 182571581 182571581 + Missense_Mutation SNP G G C TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr1:182571581G>C ENST00000367558.5 - 3 342 c.194C>G c.(193-195)tCg>tGg p.S65W NM_002928.3 NP_002919.3 O15492 RGS16_HUMAN regulator of G-protein signaling 16 65 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 CAGGTCGAACGACTCTCTCCA 0.438000 11 54 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 109001362 109001362 + Missense_Mutation SNP G G A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr8:109001362G>A ENST00000276659.5 - 3 825 c.205C>T c.(205-207)Cgc>Tgc p.R69C RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2C|RSPO2_ENST00000517781.1_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 69 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCATACTGGCGCATCCCTTCT 0.473000 15 66 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69002491 69002491 + Missense_Mutation SNP A A G TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr2:69002491A>G ENST00000295381.3 + 2 619 c.200A>G c.(199-201)tAc>tGc p.Y67C ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.Y41C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Y60C NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 67 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CAGCAGAGGTACTTTGTGCTG 0.577000 7 223 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158059381 158059381 + Silent SNP C C T rs146308217 byFrequency TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr1:158059381C>T ENST00000368172.1 + 5 588 c.576C>T c.(574-576)atC>atT p.I192I KIRREL_ENST00000368173.3_Silent_p.I394I|KIRREL_ENST00000416935.2_Silent_p.I278I|KIRREL_ENST00000392272.2_Silent_p.I275I|KIRREL_ENST00000359209.6_Silent_p.I378I|KIRREL_ENST00000360089.4_Silent_p.I214I Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 378 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TGCCTCGAATCGGAGTGGCTG 0.622000 18 96 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62173140 62173140 + Missense_Mutation SNP G G T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr15:62173140G>T ENST00000261517.5 - 72 9863 c.9790C>A c.(9790-9792)Ctc>Atc p.L3264I VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264I|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000558919.1_5'UTR NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3264 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCCTGAATGAGGACCATAAAA 0.338000 3 54 1 1 1 1 0 ERMAP 114625 broad.mit.edu 37 1 43296726 43296726 + Nonsense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr1:43296726C>T ENST00000328249.3 + 1 1141 c.103C>T c.(103-105)Cga>Tga p.R35* ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Nonsense_Mutation_p.R125*|ERMAP_ENST00000372517.2_Nonsense_Mutation_p.R125* Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 125 Ig-like V-type. G -> S (in Sc7 antigen). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGGTCTTACCGATGTCTGAT 0.527000 9 48 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622408 41622408 + Missense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr19:41622408C>T ENST00000331105.2 + 3 292 c.220C>T c.(220-222)Cgg>Tgg p.R74W NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 74 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GGGACCCAGGCGGGTGGTGGT 0.602000 23 178 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78277282 78277282 + Nonsense_Mutation SNP C C A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr11:78277282C>A ENST00000281038.5 - 4 784 c.409G>T c.(409-411)Gag>Tag p.E137* NARS2_ENST00000528850.1_5'UTR NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 137 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CGCAGATACTCCAGAGGATGC 0.373000 5 82 0.000602214 0.000622288 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38165192 38165192 + Nonsense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr22:38165192C>T ENST00000406386.3 + 20 6988 c.6733C>T c.(6733-6735)Cag>Tag p.Q2245* TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q532*|RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2245 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GCGCCACAACCAGGTGGGCCT 0.711000 7 14 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73544680 73544680 + Silent SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr10:73544680C>T ENST00000224721.6 + 42 5555 c.5550C>T c.(5548-5550)aaC>aaT p.N1850N NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1845 Cadherin 17. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGACATCAACGACAACGACC 0.597000 20 43 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167217986 167217986 + Nonsense_Mutation SNP C C A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr3:167217986C>A ENST00000308378.3 - 14 2235 c.1930G>T c.(1930-1932)Gag>Tag p.E644* WDR49_ENST00000453925.2_Nonsense_Mutation_p.E609*|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.E469* NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 644 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CGCTCTTCCTCTGGTTCTTTC 0.428000 47 206 2.52991e-16 2.70438e-16 1 1 0 ZNF774 342132 broad.mit.edu 37 15 90904247 90904247 + Missense_Mutation SNP G G A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr15:90904247G>A ENST00000354377.3 + 4 1370 c.1184G>A c.(1183-1185)cGa>cAa p.R395Q ZNF774_ENST00000379090.5_Intron NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAGCACCAACGAATCCACACC 0.498000 27 79 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 3 45 0 0 1 0 0 SPINK9 643394 broad.mit.edu 37 5 147718067 147718067 + Missense_Mutation SNP A A C TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr5:147718067A>C ENST00000511717.2 + 4 447 c.177A>C c.(175-177)ttA>ttC p.L59F RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.L38F Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 38 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAAAAAGTTACCACCAGGAC 0.308000 14 33 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 5 32 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84075582 84075582 + Missense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr16:84075582C>T ENST00000299709.3 - 1 180 c.181G>A c.(181-183)Gtg>Atg p.V61M NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 61 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ACCAGCTCCACCAGGAAGGCA 0.632000 33 119 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220402012 220402012 + Missense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr2:220402012C>T ENST00000358078.4 + 8 1765 c.1751C>T c.(1750-1752)aCg>aTg p.T584M ASIC4_ENST00000347842.3_Missense_Mutation_p.T565M Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 565 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity AGCATCCTCACGTTGCTGGAG 0.657000 9 30 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38938515 38938515 + Silent SNP G G A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr17:38938515G>A ENST00000301656.3 - 1 271 c.231C>T c.(229-231)caC>caT p.H77H NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 77 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) AGAGGAGGCCGTGCTCATTCC 0.597000 31 93 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10561280 10561280 + Splice_Site SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr19:10561280C>T ENST00000380702.2 + 6 556 c.554_splice c.e6-1 p.R186_splice PDE4A_ENST00000352831.6_Splice_Site_p.R208_splice|PDE4A_ENST00000293683.5_Splice_Site_p.R182_splice|PDE4A_ENST00000592685.1_Splice_Site_p.R186_splice|PDE4A_ENST00000440014.2_Splice_Site_p.R147_splice P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 208 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) TTTCTGCAGGCGGTCCCCGCT 0.627000 6 15 0 0 1 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026363 1026363 + Missense_Mutation SNP C C T TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr7:1026363C>T ENST00000340150.6 + 5 603 c.581C>T c.(580-582)gCg>gTg p.A194V CYP2W1_ENST00000308919.7_Missense_Mutation_p.A250V Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 250 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CTCCTGGAGGCGCGGAGGCCC 0.672000 10 21 0 0 1 0 0 RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 5 11 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 3 4 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 7 7 --- --- --- --- MIRLET7DHG 0 broad.mit.edu 37 9 96941100 96941100 + RNA DEL A A - TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr9:96941100delA ENST00000416309.2 - 0 164 RP11-2B6.3_ENST00000602703.1_lincRNA NR_046163.1 GACCAGCAAGAAAAAAAAAAT 0.378 4 5 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-J4-A67S-01A-11D-A30E-08 TCGA-J4-A67S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f76caec-6872-4f66-a84d-5c31c5cc24c5 b384da3b-69cc-4f3a-a804-090440fa25f6 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 7 114 --- --- --- ---