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 GPR37L1 9283 broad.mit.edu 37 1 202092723 202092723 + Splice_Site SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr1:202092723T>C ENST00000367282.5 + 1 736 c.e1+2 NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 TTCATGGAGGTGAGTGTGTGT 0.512 17 28 --- --- --- --- CEP170 9859 broad.mit.edu 37 1 243362462 243362462 + Silent SNP A A G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr1:243362462A>G ENST00000366542.1 - 7 582 c.531T>C c.(529-531)taT>taC p.Y177Y CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 177 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ACGGCTGCCCATATAATGGAG 0.428 3 20 --- --- --- --- GPAT2 150763 broad.mit.edu 37 2 96689180 96689180 + Silent SNP G G A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr2:96689180G>A ENST00000434632.1 - 19 2364 c.1905C>T c.(1903-1905)ggC>ggT p.G635G GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000377137.3_Intron Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 635 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CTGGCCGGGAGCCTGGGGTCT 0.567 6 38 --- --- --- --- IL36B 27177 broad.mit.edu 37 2 113783764 113783764 + Missense_Mutation SNP G G T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr2:113783764G>T ENST00000259213.4 - 5 414 c.307C>A c.(307-309)Cta>Ata p.L103I NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 103 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 attccaactagtttccagcaa 0.463 18 29 --- --- --- --- ZNF713 349075 broad.mit.edu 37 7 56007346 56007346 + Missense_Mutation SNP T T G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr7:56007346T>G ENST00000429591.2 + 4 978 c.940T>G c.(940-942)Tca>Gca p.S314A MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCGTCAGCATTCATCCTTTAC 0.403 40 62 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55537905 55537905 + Missense_Mutation SNP A A C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr8:55537905A>C ENST00000220676.1 + 4 1611 c.1463A>C c.(1462-1464)gAa>gCa p.E488A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 488 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATAGTGAAGAAAGGGAAAGT 0.363 16 28 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8460280 8460280 + Splice_Site SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr9:8460280T>C ENST00000537002.1 - 16 2736 c.2634A>G c.(2632-2634)agA>agG p.R878R PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1292 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAAACACTTTTCCAAAAATAA 0.328 TSP Lung(15;0.13) 6 7 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73558936 73558936 + Missense_Mutation SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:73558936T>C ENST00000224721.6 + 50 7143 c.7138T>C c.(7138-7140)Tca>Cca p.S2380P CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S135P NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2375 Cadherin 22. P -> L (in dbSNP:rs4747195). 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 CGTGAGGGCCTCAGACAACGG 0.572 15 18 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73558937 73558937 + Nonsense_Mutation SNP C C A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:73558937C>A ENST00000224721.6 + 50 7144 c.7139C>A c.(7138-7140)tCa>tAa p.S2380* CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135* NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2375 Cadherin 22. P -> L (in dbSNP:rs4747195). 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 GTGAGGGCCTCAGACAACGGG 0.572 15 18 --- --- --- --- BMPR1A 657 broad.mit.edu 37 10 88676986 88676986 + Missense_Mutation SNP A A T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:88676986A>T ENST00000372037.3 + 9 1308 c.771A>T c.(769-771)aaA>aaT p.K257N NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA Protein kinase. BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 GTGGCGAAAAAGTGGCGGTGA 0.453 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 8 20 --- --- --- --- COL17A1 1308 broad.mit.edu 37 10 105832989 105832989 + Nonsense_Mutation SNP T T A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr10:105832989T>A ENST00000353479.5 - 7 684 c.394A>T c.(394-396)Aga>Tga p.R132* COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132* NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 132 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTCCGTCCTCTGGTTGAAGAA 0.418 7 159 --- --- --- --- BEST1 7439 broad.mit.edu 37 11 61730330 61730330 + Missense_Mutation SNP A A C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:61730330A>C ENST00000449131.2 + 9 1610 c.1524A>C c.(1522-1524)aaA>aaC p.K508N BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|BEST1_ENST00000378043.4_Missense_Mutation_p.K568N|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 568 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 CTACACTCAAAGATCACATGG 0.502 10 22 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130278687 130278687 + Missense_Mutation SNP G G T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:130278687G>T ENST00000257359.6 - 7 2605 c.1899C>A c.(1897-1899)agC>agA p.S633R NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 633 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CTTTGAACTCGCTCCTCCCCC 0.642 30 72 --- --- --- --- NOS1 4842 broad.mit.edu 37 12 117696254 117696254 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr12:117696254C>T ENST00000317775.6 - 16 3164 c.2479G>A c.(2479-2481)Ggc>Agc p.G827S NOS1_ENST00000338101.4_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 827 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AAAGCACAGCCGAATTTCTGG 0.507 11 17 --- --- --- --- USP12 219333 broad.mit.edu 37 13 27745742 27745742 + Missense_Mutation SNP G G A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr13:27745742G>A ENST00000282344.6 - 1 291 c.35C>T c.(34-36)tCc>tTc p.S12F NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 12 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) GGTACAGATGGAGGCGAATTT 0.721 8 7 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59797408 59797408 + Splice_Site SNP T T C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr14:59797408T>C ENST00000395125.1 + 12 1583 c.e12+2 DAAM1_ENST00000360909.3_Splice_Site|DAAM1_ENST00000351081.1_Splice_Site NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTCAGCAGGGTGAGGTCTTCC 0.512 9 10 --- --- --- --- L3HYPDH 112849 broad.mit.edu 37 14 59942682 59942682 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr14:59942682C>T ENST00000247194.4 - 4 957 c.844G>A c.(844-846)Gcc>Acc p.A282T L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) TACTGTAAGGCAATTCGGGCT 0.458 19 25 --- --- --- --- PDPR 55066 broad.mit.edu 37 16 70187414 70187414 + Missense_Mutation SNP G G C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr16:70187414G>C ENST00000288050.4 + 18 3130 c.2173G>C c.(2173-2175)Gat>Cat p.D725H PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 725 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CTGGGGTCAGGATATAAATAA 0.478 5 8 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696450 47696450 + Missense_Mutation SNP A A G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr17:47696450A>G ENST00000393331.3 - 7 843 c.373T>C c.(373-375)Ttt>Ctt p.F125L SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L|SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393328.2_Missense_Mutation_p.F125L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 125 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F125V(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CCTTGCACAAACCTATATGCC 0.433 Prostate(2;0.17) 36 46 --- --- --- --- C19orf24 55009 broad.mit.edu 37 19 1279101 1279101 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr19:1279101C>T ENST00000469144.1 + 3 601 c.292C>T c.(292-294)Ctc>Ttc p.L98F C19orf24_ENST00000409293.4_3'UTR Q9BVV8 CS024_HUMAN chromosome 19 open reading frame 24 39 cytoplasm|extracellular region part|integral to membrane Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGACTTGTGCCTCTCTCCTGC 0.667 16 34 --- --- --- --- HIPK4 147746 broad.mit.edu 37 19 40890039 40890039 + Missense_Mutation SNP T T G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr19:40890039T>G ENST00000291823.2 - 2 757 c.473A>C c.(472-474)gAc>gCc p.D158A NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 158 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GGATCCGAAGTCAATCACCTG 0.637 15 26 --- --- --- --- PSG3 5671 broad.mit.edu 37 19 43237164 43237164 + Missense_Mutation SNP C C T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr19:43237164C>T ENST00000327495.5 - 3 665 c.481G>A c.(481-483)Gac>Aac p.D161N PSG3_ENST00000595140.1_Missense_Mutation_p.D161N NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 161 Ig-like C2-type 1. defense response|female pregnancy extracellular region p.D161N(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCCTCCATGTCCTCCCTGGGG 0.537 4 126 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628268 29628268 + Missense_Mutation SNP A A T TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr20:29628268A>T ENST00000278882.3 + 6 650 c.270A>T c.(268-270)agA>agT p.R90S FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S|FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTATTAGATGCAATGAAG 0.358 4 73 --- --- --- --- ELF4 2000 broad.mit.edu 37 X 129208569 129208569 + Missense_Mutation SNP A A C TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chrX:129208569A>C ENST00000308167.5 - 3 613 c.234T>G c.(232-234)agT>agG p.S78R ELF4_ENST00000335997.7_Missense_Mutation_p.S78R NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 78 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TCAGCAAAAAACTGCCTTCCA 0.517 T ERG AML 23 5 --- --- --- --- PACS1 55690 broad.mit.edu 37 11 65838130 65838130 + Frame_Shift_Del DEL C C - TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr11:65838130delC ENST00000320580.4 + 1 206 c.173delC c.(172-174)tcgfs p.S59fs NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 59 Ser-rich. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TCGTCGTCCTCGTCCACCTCG 0.766 2 4 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72828649 72828650 + Frame_Shift_Ins INS - - A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d624f520-0cf2-479f-a434-493117b54ed0 f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9 g.chr16:72828649_72828650insA ENST00000268489.5 - 9 8603_8604 c.7931_7932insT c.(7930-7932)ttgfs p.L2644fs ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L1730fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2644 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGGTTGTTCTCAAACGCTTGTC 0.490 7 194 --- --- --- ---