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 ENO1 2023 broad.mit.edu 37 1 8923006 8923006 + Splice_Site SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:8923006T>C ENST00000234590.4 - 11 1296 c.e11-2 NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGTCTTGATCTAGGAGAAAAG 0.532 OREG0013068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 --- --- --- --- CLCNKB 1188 broad.mit.edu 37 1 16378219 16378219 + Missense_Mutation SNP C C T rs121909133 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:16378219C>T ENST00000375679.4 + 14 1423 c.1312C>T c.(1312-1314)Cgc>Tgc p.R438C CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb p.R438C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TGCTATCGGGCGCCTCTTTGG 0.617 9 260 --- --- --- --- KIFAP3 22920 broad.mit.edu 37 1 169953739 169953739 + Silent SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:169953739T>C ENST00000367765.1 - 12 2758 c.1257A>G c.(1255-1257)gtA>gtG p.V419V KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 459 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGATAAGCTGTACATTTCTTT 0.328 8 58 --- --- --- --- EPB41L5 57669 broad.mit.edu 37 2 120932465 120932465 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr2:120932465A>G ENST00000443902.2 + 24 2195 c.2053A>G c.(2053-2055)Act>Gct p.T685A AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L|EPB41L5_ENST00000452780.1_Silent_p.L727L NM_001184937.1 NP_001171866.1 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 0 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AGAAGTGTTTACTGACCACTG 0.512 27 157 --- --- --- --- IQCF3 401067 broad.mit.edu 37 3 51864455 51864455 + Nonsense_Mutation SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:51864455A>T ENST00000456080.1 + 8 1268 c.103A>T c.(103-105)Aag>Tag p.K35* IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron P0C7M6 IQCF3_HUMAN IQ motif containing F3 35 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAAAAGGGTGAAGGCAGCTGG 0.567 15 43 --- --- --- --- RYBP 23429 broad.mit.edu 37 3 72428400 72428400 + Splice_Site SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:72428400A>T ENST00000477973.2 - 2 600 c.e2+1 NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CCAGAAACTTACTTGGTTTTC 0.328 28 99 --- --- --- --- KCNAB1 7881 broad.mit.edu 37 3 156192555 156192555 + Nonsense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:156192555G>T ENST00000302490.8 + 8 1421 c.550G>T c.(550-552)Gag>Tag p.E184* KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Intron NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 202 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GCTGCAGCTCGAGTATGTGGA 0.433 14 128 --- --- --- --- HELQ 113510 broad.mit.edu 37 4 84370065 84370065 + Missense_Mutation SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr4:84370065A>T ENST00000295488.3 - 3 1224 c.1062T>A c.(1060-1062)aaT>aaA p.N354K HELQ_ENST00000510985.1_Missense_Mutation_p.N354K NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 354 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AATATATTAAATTTTTTCTTT 0.338 Other identified genes with known or suspected DNA repair function 3 31 --- --- --- --- AGA 175 broad.mit.edu 37 4 178360790 178360790 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr4:178360790T>C ENST00000264595.2 - 3 461 c.334A>G c.(334-336)Att>Gtt p.I112V AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 112 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity p.I112V(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GCCACACCAATAGCATTTTTA 0.368 38 271 --- --- --- --- PCDH1 5097 broad.mit.edu 37 5 141242917 141242917 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr5:141242917C>T ENST00000287008.3 - 3 3126 c.2979G>A c.(2977-2979)gtG>gtA p.V993V PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000394536.3_Silent_p.V993V NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 993 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGTCCTGTACCACCTGGTGCT 0.637 3 24 --- --- --- --- USP45 85015 broad.mit.edu 37 6 99955361 99955361 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr6:99955361T>C ENST00000327681.6 - 4 852 c.320A>G c.(319-321)aAg>aGg p.K107R USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 107 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TCTGGAACTCTTAAAGTGCTT 0.333 3 70 --- --- --- --- CDK13 8621 broad.mit.edu 37 7 40085626 40085626 + Splice_Site SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:40085626T>C ENST00000181839.4 + 6 3148 c.e6+2 CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AAATAATAGGTATGGGTATGA 0.373 31 101 --- --- --- --- CNGB3 54714 broad.mit.edu 37 8 87645021 87645021 + Missense_Mutation SNP A A C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr8:87645021A>C ENST00000320005.5 - 11 1326 c.1279T>G c.(1279-1281)Ttt>Gtt p.F427V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 427 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCAGAAAAAAAATTCAAGAGT 0.358 4 24 --- --- --- --- AAED1 195827 broad.mit.edu 37 9 99404081 99404081 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr9:99404081T>C ENST00000375234.3 - 6 640 c.641A>G c.(640-642)cAt>cGt p.H214R NM_153698.1 NP_714542.1 Q7RTV5 CI021_HUMAN AhpC/TSA antioxidant enzyme domain containing 1 214 antioxidant activity|oxidoreductase activity AAAGTTCACATGCTGAACTCC 0.403 16 93 --- --- --- --- RPP38 10557 broad.mit.edu 37 10 15145358 15145358 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:15145358G>A ENST00000378197.4 + 3 559 c.45G>A c.(43-45)aaG>aaA p.K15K RPP38_ENST00000378202.5_Silent_p.K15K|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron NM_183005.4 NP_892117.1 P78345 RPP38_HUMAN ribonuclease P/MRP 38kDa subunit 15 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1) 8 CTCTCCGTAAGACGAGACCTC 0.498 13 74 --- --- --- --- PTCHD3 374308 broad.mit.edu 37 10 27702748 27702748 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:27702748C>T ENST00000438700.3 - 1 549 c.432G>A c.(430-432)gcG>gcA p.A144A NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 144 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCATCAAGGGCGCCAGCAGGA 0.667 12 78 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81058166 81058166 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:81058166C>T ENST00000334512.5 + 15 2067 c.1495C>T c.(1495-1497)Ccc>Tcc p.P499S NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 499 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTCCAGCCTCCCAGGCCGGT 0.602 41 257 --- --- --- --- SLC6A5 9152 broad.mit.edu 37 11 20676275 20676275 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:20676275G>A ENST00000525748.1 + 16 2528 c.2255G>A c.(2254-2256)tGc>tAc p.C752Y SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 752 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AAGTTGGTGTGCTCGCCACAG 0.557 4 112 --- --- --- --- OR4X2 119764 broad.mit.edu 37 11 48266787 48266787 + Missense_Mutation SNP C C A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:48266787C>A ENST00000302329.3 + 1 180 c.132C>A c.(130-132)agC>agA p.S44R NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCATGACCAGCAGAAGCCTTG 0.502 14 117 --- --- --- --- PPP6R3 55291 broad.mit.edu 37 11 68315610 68315610 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:68315610G>T ENST00000393799.2 + 5 757 c.490G>T c.(490-492)Gat>Tat p.D164Y PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 164 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGCTATCATGGATTTGTTGCT 0.428 4 114 --- --- --- --- KCTD14 65987 broad.mit.edu 37 11 77728307 77728307 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:77728307C>G ENST00000353172.5 - 2 144 c.100G>C c.(100-102)Gtt>Ctt p.V34L NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 34 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AGCTCCACAACAGTAGACATC 0.502 8 46 --- --- --- --- TRIM29 23650 broad.mit.edu 37 11 120008138 120008138 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:120008138G>A ENST00000341846.5 - 1 1023 c.602C>T c.(601-603)cCc>cTc p.P201L NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 201 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CTCCAGGTGGGGCTTGAGATG 0.647 7 35 --- --- --- --- SCN8A 6334 broad.mit.edu 37 12 52200821 52200821 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr12:52200821T>G ENST00000354534.6 + 27 5729 c.5551T>G c.(5551-5553)Ttc>Gtc p.F1851V SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTTTTTGCCTTCACCAAGCG 0.557 26 117 --- --- --- --- WIF1 11197 broad.mit.edu 37 12 65514270 65514270 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr12:65514270T>C ENST00000286574.4 - 2 589 c.215A>G c.(214-216)aAa>aGa p.K72R NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 72 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity p.K72I(2) cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CTGTTGTGCTTTTCTGAAATC 0.378 T HMGA2 pleomorphic salivary gland adenoma 5 109 --- --- --- --- CAND1 55832 broad.mit.edu 37 12 67700301 67700301 + Silent SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr12:67700301T>C ENST00000545606.1 + 10 3290 c.2853T>C c.(2851-2853)gtT>gtC p.V951V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 951 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GAAATGTTGTTGCTGAATGTC 0.423 12 75 --- --- --- --- ATP12A 479 broad.mit.edu 37 13 25255780 25255780 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:25255780G>T ENST00000218548.6 + 2 423 c.90G>T c.(88-90)aaG>aaT p.K30N ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 30 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCAAGGAGAAGTATAGGGGTC 0.473 9 67 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48934221 48934221 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:48934221T>C ENST00000267163.4 + 7 814 c.676T>C c.(676-678)Ttt>Ctt p.F226L NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 226 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTTGACTATTTTATTAAACT 0.313 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 91 --- --- --- --- GPC6 10082 broad.mit.edu 37 13 94482577 94482577 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:94482577T>C ENST00000377047.4 + 3 1105 c.490T>C c.(490-492)Ttt>Ctt p.F164L GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 164 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) GCTCAATGACTTTTGGGCTCG 0.468 4 68 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061231 38061231 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr14:38061231A>G ENST00000250448.2 - 2 819 c.758T>C c.(757-759)aTg>aCg p.M253T FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 253 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.M253R(2)|p.M253K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTTCTCGAACATGTTGCCGGA 0.687 4 28 --- --- --- --- MAP1A 4130 broad.mit.edu 37 15 43815432 43815432 + Silent SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr15:43815432A>G ENST00000382031.1 + 5 2506 c.2475A>G c.(2473-2475)gaA>gaG p.E825E MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E P78559 MAP1A_HUMAN microtubule-associated protein 1A 587 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACAAGAAGAACATGTGATGA 0.537 6 22 --- --- --- --- PRR25 388199 broad.mit.edu 37 16 857600 857600 + Missense_Mutation SNP A A C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:857600A>C ENST00000301698.1 + 2 597 c.597A>C c.(595-597)ttA>ttC p.L199F NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 199 large_intestine(1)|lung(1)|skin(1) 3 CCCTGCATTTAGAGAAGGGGG 0.701 5 52 --- --- --- --- CDH11 1009 broad.mit.edu 37 16 65005959 65005959 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:65005959G>T ENST00000394156.3 - 10 1852 c.1399C>A c.(1399-1401)Cat>Aat p.H467N CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 467 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCTTCCTGATGCCGATTGTCT 0.478 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 6 47 --- --- --- --- DPEP3 64180 broad.mit.edu 37 16 68010634 68010634 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:68010634C>T ENST00000268793.4 - 8 1511 c.1138G>A c.(1138-1140)Ggg>Agg p.G380R NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 355 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CCACCAATCCCGATGAACTCA 0.552 7 46 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA 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.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448 Prostate(2;0.17) 15 135 --- --- --- --- CDC37 11140 broad.mit.edu 37 19 10506785 10506785 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:10506785C>G ENST00000222005.2 - 2 250 c.197G>C c.(196-198)aGg>aCg p.R66T NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 66 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CTTCAGTTTCCTCTGGCACTC 0.677 27 122 --- --- --- --- NPHS1 4868 broad.mit.edu 37 19 36333346 36333346 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:36333346T>G ENST00000378910.5 - 18 2440 c.2441A>C c.(2440-2442)tAc>tCc p.Y814S NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 814 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AATGCACTGGTAAGCGCCAGC 0.582 19 103 --- --- --- --- ANGPT4 51378 broad.mit.edu 37 20 861826 861826 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr20:861826C>T ENST00000381922.3 - 5 1041 c.939G>A c.(937-939)acG>acA p.T313T ANGPT4_ENST00000546022.1_Silent_p.T313T NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 313 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TCCTGGGCTTCGTTGCATTGG 0.597 9 32 --- --- --- --- CCDC101 112869 broad.mit.edu 37 16 28597027 28597027 + Frame_Shift_Del DEL A A - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:28597027delA ENST00000317058.3 + 4 397 c.210delA c.(208-210)gcafs p.A70fs NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 70 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 AGGCCGATGCAGAGGCTGAGT 0.607 21 93 --- --- --- ---