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 CCDC181 57821 broad.mit.edu 37 1 169390975 169390975 + Missense_Mutation SNP C C G TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:169390975C>G ENST00000545005.1 - 4 1201 c.694G>C c.(694-696)Gac>Cac p.D232H CCDC181_ENST00000367806.3_Missense_Mutation_p.D232H|CCDC181_ENST00000367805.3_Missense_Mutation_p.D232H|CCDC181_ENST00000491570.1_5'UTR coiled-coil domain containing 181 CTGGCAATGTCTTGTAAATTC 0.408000 13 206 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53522428 53522428 + Missense_Mutation SNP C C T rs143188831 TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:53522428C>T ENST00000357758.3 - 10 2378 c.2195G>A c.(2194-2196)cGc>cAc p.R732H DDHD1_ENST00000323669.5_Missense_Mutation_p.R732H|DDHD1_ENST00000395606.1_Missense_Mutation_p.R739H NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 732 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) ATAGTGTCGGCGGGACAAAAC 0.403000 5 326 0 0 1 0 0 RHBDL3 162494 broad.mit.edu 37 17 30643271 30643271 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr17:30643271C>T ENST00000269051.4 + 8 917 c.903C>T c.(901-903)tgC>tgT p.C301C RHBDL3_ENST00000536287.1_Silent_p.C203C|RHBDL3_ENST00000538145.1_Silent_p.C293C NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 301 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) GCATGAAGTGCCAGTTCAAGC 0.522000 5 316 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769744 140769744 + Missense_Mutation SNP C C G TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr5:140769744C>G ENST00000519479.1 + 1 2293 c.2293C>G c.(2293-2295)Cta>Gta p.L765V PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTAATTTCCTAAAATGTAG 0.433000 203 282 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516104 195516104 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr3:195516104C>T ENST00000463781.3 - 2 2806 c.2347G>A c.(2347-2349)Gga>Aga p.G783R MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G783R|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 788 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGTTTGTCCAGAGGCCTCT 0.622000 34 68 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24202093 24202093 + Missense_Mutation SNP C C A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:24202093C>A ENST00000536471.1 - 3 273 c.15G>T c.(13-15)tgG>tgT p.W5C CNR2_ENST00000374472.4_Missense_Mutation_p.W5C P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 5 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TCTCTGTCACCCAGCATTCCT 0.473000 80 131 7.30829e-53 8.00908e-53 1 1 0 DPYSL4 10570 broad.mit.edu 37 10 134016279 134016279 + Missense_Mutation SNP C C T rs143213280 TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr10:134016279C>T ENST00000338492.4 + 12 1575 c.1411C>T c.(1411-1413)Cgg>Tgg p.R471W DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 471 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CTTCGTCCCTCGGAAAACATT 0.642000 7 83 0 0 1 0 0 PGF 5228 broad.mit.edu 37 14 75420625 75420625 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:75420625C>T ENST00000555567.1 - 2 641 c.100G>A c.(100-102)Ggc>Agc p.G34S PGF_ENST00000553716.1_Missense_Mutation_p.G34S|PGF_ENST00000238607.6_Missense_Mutation_p.G33S|PGF_ENST00000405431.2_Missense_Mutation_p.G34S NM_002632.5 NP_002623.2 P49763 PLGF_HUMAN placental growth factor 34 angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway extracellular region|membrane growth factor activity|heparin binding kidney(1)|large_intestine(3)|lung(3)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.00668) TCTGACGAGCCGTTCCCAGCA 0.597000 4 45 0 0 1 0 0 PSMD13 5719 broad.mit.edu 37 11 250865 250865 + Splice_Site SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:250865G>A ENST00000532097.1 + 10 1341 c.837_splice c.e10+1 p.E279_splice PSMD13_ENST00000352303.5_Splice_Site_p.E279_splice|PSMD13_ENST00000431206.2_Splice_Site_p.E281_splice NM_002817.3 NP_002808.3 Q9UNM6 PSD13_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 279 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 10 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) GCCTCATGGAGGTAAGCGAAC 0.478000 OREG0020657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 186 0 0 1 0 0 YPEL2 388403 broad.mit.edu 37 17 57466804 57466804 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr17:57466804G>A ENST00000312655.4 + 4 563 c.245G>A c.(244-246)tGc>tAc p.C82Y YPEL2_ENST00000585166.1_Missense_Mutation_p.C82Y|YPEL2_ENST00000581865.1_3'UTR NM_001005404.3 NP_001005404.1 Q96QA6 YPEL2_HUMAN yippee-like 2 (Drosophila) 82 nucleolus endometrium(1)|large_intestine(1)|lung(3) 5 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TGTGAAAACTGCAAAACCACT 0.483000 3 52 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71971760 71971760 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr12:71971760C>T ENST00000266674.5 + 14 1575 c.1264C>T c.(1264-1266)Cca>Tca p.P422S LGR5_ENST00000540815.2_Missense_Mutation_p.P398S|LGR5_ENST00000536515.1_Missense_Mutation_p.P350S O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 422 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TTCCACTTTGCCATCCCTAAT 0.313000 5 306 0 0 1 0 0 CCDC89 220388 broad.mit.edu 37 11 85396245 85396245 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:85396245G>A ENST00000316398.3 - 1 1075 c.929C>T c.(928-930)gCg>gTg p.A310V NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 310 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CCGCTCCAGCGCATGCTTCCT 0.512000 4 180 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2882103 2882103 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr16:2882103G>A ENST00000382280.3 + 4 649 c.570G>A c.(568-570)ccG>ccA p.P190P ZG16B_ENST00000572863.1_Silent_p.P160P NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 190 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 TAGAGGAGCCGACCACTGAGC 0.562000 5 110 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9248274 9248274 + Missense_Mutation SNP T T C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr12:9248274T>C ENST00000318602.7 - 16 2181 c.1874A>G c.(1873-1875)aAg>aGg p.K625R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 625 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGTGAGGTCCTTTTCTGGTAG 0.353000 3 233 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089264 86089264 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:86089264G>A ENST00000330753.4 + 2 2173 c.1406G>A c.(1405-1407)cGc>cAc p.R469H FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 469 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTTCAGGAGCGCATAGTCAGC 0.507000 4 248 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 7 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23239116 23239116 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:23239116G>A ENST00000358043.5 + 4 826 c.508G>A c.(508-510)Gcc>Acc p.A170T OXA1L_ENST00000604262.1_Missense_Mutation_p.A186T|OXA1L_ENST00000285848.5_Missense_Mutation_p.A246T|OXA1L_ENST00000412791.1_Missense_Mutation_p.A186T Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 186 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AATCAGAGAGGCCAAGTTAGC 0.507000 39 1608 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48839848 48839848 + Missense_Mutation SNP T T G TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr8:48839848T>G ENST00000314191.2 - 21 2381 c.2325A>C c.(2323-2325)gaA>gaC p.E775D PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E775D NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 775 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAATTGACCATTCTTCTAGAG 0.428000 Non-homologous end-joining 3 76 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63666932 63666932 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr2:63666932C>T ENST00000409562.3 - 7 704 c.458G>A c.(457-459)aGa>aAa p.R153K WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000272321.7_Missense_Mutation_p.R153K|WDPCP_ENST00000409835.1_5'UTR O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 153 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 CACCAGGCTTCTGTCAATCAC 0.498000 5 238 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 3 17 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12381877 12381877 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:12381877C>T ENST00000358136.3 + 33 7690 c.7560C>T c.(7558-7560)tgC>tgT p.C2520C VPS13D_ENST00000356315.4_Silent_p.C2520C NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2520 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGTTTTCATGCCGACTAGGGA 0.408000 4 204 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160774 12160774 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr10:12160774G>A ENST00000263035.4 + 15 2491 c.2429G>A c.(2428-2430)gGc>gAc p.G810D NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 810 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.G810D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTCTGCTCCGGCAAACATTTC 0.483000 5 465 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501914 140501914 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr5:140501914C>T ENST00000194152.1 + 1 334 c.334C>T c.(334-336)Ccg>Tcg p.P112S NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 112 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGAAATGCCGGTGCAATT 0.423000 4 96 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T T G TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr9:6012658T>G ENST00000259569.5 - 1 2960 c.2950A>C c.(2950-2952)Ata>Cta p.I984L NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 984 protein transport cytoplasm|nucleus binding p.I984L(4) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363000 5 241 0 0 1 0 0 LCE1B 353132 broad.mit.edu 37 1 152785009 152785009 + Silent SNP C C T rs151038984 TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:152785009C>T ENST00000360090.3 + 1 563 c.87C>T c.(85-87)tgC>tgT p.C29C NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 29 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCCCTAGATGCCCCCCAAAGT 0.632000 4 146 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128471384 128471384 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr2:128471384G>A ENST00000322313.4 - 18 3239 c.3081C>T c.(3079-3081)caC>caT p.H1027H NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1027 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CACGTAACCGGTGGCCAAAGC 0.607000 6 258 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112015631 112015631 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr6:112015631G>A ENST00000354650.3 - 12 1826 c.1220C>T c.(1219-1221)gCt>gTt p.A407V FYN_ENST00000538466.1_Missense_Mutation_p.A404V|FYN_ENST00000229470.5_Missense_Mutation_p.A355V|FYN_ENST00000229471.4_Missense_Mutation_p.A352V|FYN_ENST00000356013.2_Missense_Mutation_p.A352V|FYN_ENST00000368678.4_Missense_Mutation_p.A404V|FYN_ENST00000368682.3_Missense_Mutation_p.A404V|FYN_ENST00000368667.2_Missense_Mutation_p.A407V NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 407 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TCCGAAGTCAGCAATCTTGCA 0.468000 4 321 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42853645 42853645 + Missense_Mutation SNP T T C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr12:42853645T>C ENST00000455697.1 - 8 2747 c.2462A>G c.(2461-2463)aAg>aGg p.K821R PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 821 Poly-Lys. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CTTGTGTCCCTTTTTCTTCTT 0.403000 5 490 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457994 124457994 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr10:124457994C>T ENST00000329446.4 - 3 294 c.263G>A c.(262-264)gGc>gAc p.G88D NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 88 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GGTGTGAATGCCACCTAGACG 0.488000 5 438 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 7 0.115264 0.118219 1 1 0 HERC2 8924 broad.mit.edu 37 15 28386944 28386944 + Missense_Mutation SNP C C A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr15:28386944C>A ENST00000261609.7 - 77 11857 c.11749G>T c.(11749-11751)Gtt>Ttt p.V3917F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3917 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCATGCAGAACATCCATGTTT 0.338000 5 478 8.12818e-05 8.67006e-05 1 1 0 ZNF70 7621 broad.mit.edu 37 22 24087079 24087079 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr22:24087079G>A ENST00000341976.3 - 2 709 c.249C>T c.(247-249)acC>acT p.T83T NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 83 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 CCTGGGGTCTGGTTCCTGGGG 0.498000 8 238 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73511020 73511020 + Missense_Mutation SNP T T C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr10:73511020T>C ENST00000394957.3 - 7 984 c.926A>G c.(925-927)gAg>gGg p.E309G CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 309 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CTAGATGACCTCAAAGTTTGG 0.622000 2 8 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304169 53304169 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr19:53304169C>T ENST00000438150.2 - 2 1663 c.770G>A c.(769-771)cGc>cAc p.R257H ZNF28_ENST00000414252.2_Missense_Mutation_p.R257H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R257H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R310H P17035 ZNF28_HUMAN zinc finger protein 28 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GTGTGATTTGCGACTGAAAAC 0.383000 6 376 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64920038 64920038 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr5:64920038C>T ENST00000231524.9 - 1 435 c.64G>A c.(64-66)Ggg>Agg p.G22R TRIM23_ENST00000381018.3_Missense_Mutation_p.G22R|TRIM23_ENST00000274327.7_Missense_Mutation_p.G22R NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 22 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ACAGCTGTCCCCCGGCTGCCC 0.632000 4 22 0 0 1 0 0 TMED6 146456 broad.mit.edu 37 16 69377539 69377539 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr16:69377539C>T ENST00000288025.3 - 4 549 c.494G>A c.(493-495)gGc>gAc p.G165D RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 165 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 CTTTTGTGTGCCGTCCTATGA 0.428000 4 179 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187725 57187725 + Missense_Mutation SNP G G T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr7:57187725G>T ENST00000331162.4 - 5 1667 c.1397C>A c.(1396-1398)aCa>aAa p.T466K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATGTGTAGGGTCT 0.428000 4 299 0.150653 0.15256 1 1 0 SEZ6L 23544 broad.mit.edu 37 22 26709759 26709759 + Missense_Mutation SNP G G T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr22:26709759G>T ENST00000529632.2 + 9 2102 c.1906G>T c.(1906-1908)Gct>Tct p.A636S SEZ6L_ENST00000360929.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A636S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A409S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A636S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A409S NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 636 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTCTGCTGTGGCTGGGGTGGT 0.502000 7 262 0.0293803 0.0309267 1 1 0 IRX5 10265 broad.mit.edu 37 16 54966805 54966805 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr16:54966805C>T ENST00000394636.4 + 2 982 c.645C>T c.(643-645)ggC>ggT p.G215G IRX5_ENST00000320990.5_Silent_p.G215G|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.G149G P78411 IRX5_HUMAN iroquois homeobox 5 215 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 ACCCCGAGGGCCCCGAAGCAG 0.647000 6 150 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926348 67926348 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:67926348G>A ENST00000304363.4 - 11 1818 c.1465C>T c.(1465-1467)Ccc>Tcc p.P489S NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.P489S(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TTTTTAATGGGCAAATTTTTA 0.458000 4 168 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1954983 1954983 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr4:1954983C>T ENST00000382888.3 + 2 632 c.114C>T c.(112-114)ggC>ggT p.G38G WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron|WHSC1_ENST00000382895.3_Intron O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1258 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ATTTTAGTGGCTCAGAACTGC 0.448000 T IGH@ MM 6 33 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161140729 161140729 + Nonsense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:161140729G>A ENST00000367999.4 + 12 1547 c.1281G>A c.(1279-1281)tgG>tgA p.W427* PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Nonsense_Mutation_p.W135*|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Nonsense_Mutation_p.W427* NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 427 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity p.W427*(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TAGGTCACTGGCAAAAACTAG 0.478000 4 228 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117248669 117248669 + Nonsense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr6:117248669C>T ENST00000332958.2 + 17 2381 c.2365C>T c.(2365-2367)Caa>Taa p.Q789* NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 789 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGCCAGCTGCCAAGGAGCAAC 0.418000 9 71 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5626669 5626669 + Missense_Mutation SNP G G C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:5626669G>C ENST00000380097.3 + 4 948 c.706G>C c.(706-708)Gaa>Caa p.E236Q TRIM6_ENST00000507320.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000515022.1_Missense_Mutation_p.E33Q|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E236Q|TRIM6_ENST00000506134.1_Missense_Mutation_p.E33Q|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000278302.5_Missense_Mutation_p.E208Q|TRIM6_ENST00000380107.1_Missense_Mutation_p.E182Q|TRIM6_ENST00000445329.1_Missense_Mutation_p.E33Q|HBG2_ENST00000380259.2_Intron NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) GCTGGAACAGGAAGAGAAGAA 0.512000 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 131 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118624114 118624114 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:118624114G>A ENST00000336338.5 - 14 1979 c.1914C>T c.(1912-1914)aaC>aaT p.N638N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 638 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATCTGGCAGGGTTGTCCCACG 0.448000 12 225 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142275326 142275326 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr3:142275326G>A ENST00000350721.4 - 9 2098 c.1977C>T c.(1975-1977)gcC>gcT p.A659A ATR_ENST00000383101.3_Silent_p.A595A NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 659 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AGCTCTGCAGGGCCCAGTTGT 0.423000 Other conserved DNA damage response genes 5 330 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545934 28545934 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr17:28545934G>A ENST00000401766.2 - 3 871 c.359C>T c.(358-360)cCc>cTc p.P120L SLC6A4_ENST00000261707.3_Missense_Mutation_p.P120L P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 120 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GATGGTGTAGGGGAGGAGGAA 0.512000 4 111 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614565 36614565 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:36614565C>T ENST00000311485.3 - 2 1315 c.1154G>A c.(1153-1155)tGt>tAt p.C385Y NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 385 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TGCACTGAAACAAAATTCTTC 0.383000 Familial Hemophagocytic Lymphohistiocytosis 7 249 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20577188 20577188 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr13:20577188G>A ENST00000382869.3 + 4 1297 c.1046G>A c.(1045-1047)gGa>gAa p.G349E ZMYM2_ENST00000382871.2_Missense_Mutation_p.G349E|ZMYM2_ENST00000382881.3_Missense_Mutation_p.G262E|ZMYM2_ENST00000382874.2_Missense_Mutation_p.G349E NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAACGAAAAGGATCAGCTCAC 0.443000 4 70 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100380607 100380607 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:100380607G>A ENST00000262233.6 + 14 1725 c.1586G>A c.(1585-1587)gGc>gAc p.G529D EML1_ENST00000327921.9_Missense_Mutation_p.G517D|EML1_ENST00000334192.4_Missense_Mutation_p.G548D NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 529 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GTCCTGCAGGGCACTCTGTCA 0.502000 4 175 0 0 1 0 0 GPR52 9293 broad.mit.edu 37 1 174417939 174417939 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr1:174417939C>T ENST00000367685.2 + 1 728 c.690C>T c.(688-690)tgC>tgT p.C230C RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 230 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 TCAAAATTTGCCGTCAGCACA 0.463000 4 306 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780777 25780777 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr4:25780777C>T ENST00000399878.3 - 16 2628 c.2506G>A c.(2506-2508)Gaa>Aaa p.E836K SEL1L3_ENST00000264868.5_Missense_Mutation_p.E801K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E683K NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 836 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 AAGGTCCCTTCCATGTGTCCA 0.468000 14 200 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35763134 35763134 + Nonsense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr3:35763134C>T ENST00000187397.4 + 14 1489 c.1033C>T c.(1033-1035)Cga>Tga p.R345* ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R291*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R291* NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 345 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATCTGGGAGTCGACAGAGCAG 0.532000 4 45 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38946385 38946385 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr19:38946385C>T ENST00000355481.4 + 16 1916 c.1785C>T c.(1783-1785)aaC>aaT p.N595N RYR1_ENST00000359596.3_Silent_p.N595N|RYR1_ENST00000360985.3_Silent_p.N595N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 595 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ATGGGAGGAACCACAAGGTCG 0.557000 4 69 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1954982 1954982 + Missense_Mutation SNP G G C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr4:1954982G>C ENST00000382888.3 + 2 631 c.113G>C c.(112-114)gGc>gCc p.G38A WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron|WHSC1_ENST00000382895.3_Intron O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1258 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GATTTTAGTGGCTCAGAACTG 0.448000 T IGH@ MM 6 32 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102636166 102636166 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr2:102636166G>A ENST00000332549.3 + 5 809 c.580G>A c.(580-582)Gta>Ata p.V194I IL1R2_ENST00000441002.1_Missense_Mutation_p.V194I|IL1R2_ENST00000393414.2_Missense_Mutation_p.V194I NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 194 Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TCACTTACTCGTACACGATGT 0.423000 3 55 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370138 56370138 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr19:56370138C>T ENST00000301295.6 + 3 1801 c.1379C>T c.(1378-1380)gCc>gTc p.A460V NLRP4_ENST00000587891.1_Missense_Mutation_p.A385V|NLRP4_ENST00000346986.5_Missense_Mutation_p.A460V NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 460 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAGTTCTGTGCCGCCTTGTTC 0.512000 5 310 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148427438 148427438 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr5:148427438C>T ENST00000515425.1 - 3 367 c.266G>A c.(265-267)cGc>cAc p.R89H SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 89 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACAGCATGCGCACCTCCTG 0.527000 4 190 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70536394 70536394 + Silent SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr8:70536394C>T ENST00000260128.4 + 15 2529 c.1812C>T c.(1810-1812)aaC>aaT p.N604N SULF1_ENST00000402687.4_Silent_p.N604N|SULF1_ENST00000419716.3_Silent_p.N604N|SULF1_ENST00000458141.2_Silent_p.N604N|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 604 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ATAGCAGCAACGCCGTGGGCC 0.512000 3 22 0 0 1 0 0 SGPP1 81537 broad.mit.edu 37 14 64153040 64153040 + Missense_Mutation SNP A A G TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:64153040A>G ENST00000247225.6 - 3 1203 c.1109T>C c.(1108-1110)cTc>cCc p.L370P NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 370 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) CATCCCTATGAGGATCCGCAA 0.383000 3 224 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 48 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58949292 58949292 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:58949292G>A ENST00000227451.3 + 2 396 c.292G>A c.(292-294)Gac>Aac p.D98N DTX4_ENST00000532982.1_5'UTR NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 98 WWE 2. Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GTGGGAGAACGACAATGGCTC 0.617000 8 137 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48259051 48259051 + Missense_Mutation SNP G G C TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr7:48259051G>C ENST00000435803.1 + 4 412 c.388G>C c.(388-390)Gac>Cac p.D130H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 130 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGAATGATGGACAAGGCAAA 0.423000 10 199 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47452810 47452810 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr3:47452810G>A ENST00000265562.4 + 20 3599 c.3522G>A c.(3520-3522)ttG>ttA p.L1174L PTPN23_ENST00000431726.1_Silent_p.L1048L NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1174 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCGGCAGTTGCAGCAGGAGC 0.647000 10 16 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278292 114278292 + Missense_Mutation SNP C C A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr4:114278292C>A ENST00000357077.4 + 38 8571 c.8518C>A c.(8518-8520)Ccc>Acc p.P2840T ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2807T|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2807 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCAGATTGCCCCAGTGAAAG 0.393000 17 279 4.96729e-08 5.37004e-08 1 1 0 ZNF28 7576 broad.mit.edu 37 19 53303044 53303044 + Missense_Mutation SNP T T A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr19:53303044T>A ENST00000438150.2 - 2 2788 c.1895A>T c.(1894-1896)cAt>cTt p.H632L ZNF28_ENST00000414252.2_Missense_Mutation_p.H632L|ZNF28_ENST00000360272.4_Missense_Mutation_p.H632L|ZNF28_ENST00000457749.2_Missense_Mutation_p.H685L P17035 ZNF28_HUMAN zinc finger protein 28 685 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CTCTCCAGTATGAACTCTCTG 0.408000 5 396 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62381766 62381778 + Frame_Shift_Del DEL TGATGGGGTCCCT TGATGGGGTCCCT - TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr11:62381766_62381778delTGATGGGGTCCCT ENST00000278833.3 + 2 1168_1180 c.627_639delTGATGGGGTCCCT c.(625-639)acfs p.TDGVP209fs ROM1_ENST00000534093.1_Start_Codon_Del NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 209 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 TATACCTGACTGATGGGGTCCCTTTCTCCTGTT 0.582 21 520 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868218 + RNA DEL GTGT GTGT - rs56304844 TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr12:110868215_110868218delGTGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgtgt 0.490 2 4 --- --- --- --- DAOA-AS1 282706 broad.mit.edu 37 13 106148111 106148114 + RNA DEL CTTC CTTC - TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr13:106148111_106148114delCTTC ENST00000448407.1 - 0 100 NR_040247.1 GGATCTTTCTcttccttccttcct 0.353 7 7 --- --- --- --- TGM1 7051 broad.mit.edu 37 14 24727524 24727524 + Frame_Shift_Del DEL C C - TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr14:24727524delC ENST00000206765.6 - 9 1492 c.1369delG c.(1369-1371)tgfs p.V458fs TGM1_ENST00000544573.1_Frame_Shift_Del_p.V16fs NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 458 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GCATCCACCACCTGCCACCCA 0.602 13 40 --- --- --- --- UHRF1 29128 broad.mit.edu 37 19 4933983 4933984 + RNA DEL GC GC - rs8108532 TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr19:4933983_4933984delGC ENST00000592666.1 + 0 1361 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) gtgtgtgtgtgcgtgtgtgtgt 0.416 3 3 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58889714 58889717 + RNA DEL CCAT CCAT - TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr20:58889714_58889717delCCAT ENST00000432910.1 + 0 332 NR_046099.1 atccaccctcccatccatccatcc 0.539 3 4 --- --- --- --- BCRP7 100133163 broad.mit.edu 37 22 18843613 18843613 + RNA DEL G G - TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f90cb64-c4b8-45b1-a734-886b758871c9 6e87b1c0-278e-4d50-b05a-ee0fdf35c21d g.chr22:18843613delG ENST00000412938.1 + 0 2337 AGGAGAGGCAGGGGCGGGGGT 0.622 3 6 --- --- --- ---