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 FCGBP 8857 broad.mit.edu 37 19 40366101 40366101 + Silent SNP T T C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr19:40366101T>C uc002omp.4 - 29 14141 c.14133A>G c.(14131-14133)gcA>gcG p.A4711A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4711 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGTAGCCACTGCAGGACAGA 0.672000 22 33 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133894135 133894135 + Silent SNP T T C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr8:133894135T>C uc003ytw.3 + 5 707 c.666T>C c.(664-666)agT>agC p.S222S NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 222 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGACCTTCAGTTCCTTCCAGA 0.483000 44 87 0 0 1 0 0 FANCF 2188 broad.mit.edu 37 11 22646539 22646539 + Missense_Mutation SNP A A C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr11:22646539A>C uc001mql.1 - 0 849 c.818T>G c.(817-819)gTc>gGc p.V273G NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA. 273 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 ACCCAGATAGACAGGAGACAG 0.552000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 133 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36674128 36674128 + Missense_Mutation SNP C C G TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr19:36674128C>G uc002odn.3 - 4 848 c.740G>C c.(739-741)gGt>gCt p.G247A ZNF565_uc010ees.3_Missense_Mutation_p.G182A|ZNF565_uc002odo.3_Missense_Mutation_p.G247A NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA. 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) AGGTTTGACACCAGTATGAAG 0.438000 10 111 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661752 77661752 + Missense_Mutation SNP A A T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr4:77661752A>T uc011cbx.2 + 4 3379 c.2426A>T c.(2425-2427)tAt>tTt p.Y809F SHROOM3_uc011cbz.1_Missense_Mutation_p.Y633F|SHROOM3_uc003hkf.1_Missense_Mutation_p.Y684F|SHROOM3_uc003hkg.3_Missense_Mutation_p.Y587F NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 809 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGCCATAACTATAGGCCCCAC 0.552000 29 80 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154280951 154280951 + Missense_Mutation SNP T T A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr5:154280951T>A uc003lvx.3 - 20 3045 c.2962A>T c.(2962-2964)Atc>Ttc p.I988F GEMIN5_uc011ddk.1_Missense_Mutation_p.I987F NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 988 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACTTTGTGGATGGAAAGTAGG 0.453000 85 103 0 0 1 0 0 FAM169B 283777 broad.mit.edu 37 15 98982901 98982901 + Missense_Mutation SNP C C T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr15:98982901C>T uc002buk.1 - 6 788 c.538G>A c.(538-540)Gca>Aca p.A180T NM_182562 NP_872368 Q8N8A8 F169B_HUMAN Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA. 180 large_intestine(3)|lung(3)|urinary_tract(1) 7 GGCTGCCCTGCCAGCCCGGCA 0.587000 12 50 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71339788 71339788 + Missense_Mutation SNP T T C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr4:71339788T>C uc011cat.2 + 2 338 c.50T>C c.(49-51)tTc>tCc p.F17S MUC7_uc011cau.2_Missense_Mutation_p.F17S|MUC7_uc003hfj.3_Missense_Mutation_p.F17S NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 17 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) AGTGCTTGCTTCTCGGTAAGT 0.388000 49 97 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660335 77660335 + Missense_Mutation SNP G G C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr4:77660335G>C uc011cbx.2 + 4 1962 c.1009G>C c.(1009-1011)Gcc>Ccc p.A337P SHROOM3_uc011cbz.1_Missense_Mutation_p.A161P|SHROOM3_uc003hkf.1_Missense_Mutation_p.A212P|SHROOM3_uc003hkg.3_Missense_Mutation_p.A115P NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 337 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGAGGCCCGAGCCTCAGCAAA 0.552000 48 95 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40113746 40113746 + Missense_Mutation SNP A A G TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr4:40113746A>G uc003guy.4 + 5 1879 c.1541A>G c.(1540-1542)gAt>gGt p.D514G N4BP2_uc010ifq.3_Missense_Mutation_p.D434G|N4BP2_uc010ifr.3_Missense_Mutation_p.D434G NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 514 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 ATAATTATAGATAATACAAAC 0.274000 124 133 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131112771 131112771 + Missense_Mutation SNP G G A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr9:131112771G>A uc004but.3 + 5 1079 c.794G>A c.(793-795)cGc>cAc p.R265H SLC27A4_uc004buu.3_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA. 265 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 AGGTATTACCGCATGGCTGCC 0.627000 4 59 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692932 89692932 + Nonsense_Mutation SNP T T A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr10:89692932T>A uc001kfb.3 + 4 1448 c.416T>A c.(415-417)tTa>tAa p.L139* PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 139 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.L139*(12)|p.?(5)|p.R55fs*1(5)|p.L139fs*40(4)|p.L139fs*7(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y138C(2)|p.Y138fs*9(1)|p.L139V(1)|p.I135fs*6(1)|p.L139F(1)|p.Y138*(1)|p.Y138D(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTGCATATTTATTACATCGG 0.383000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 20 66 0 0 1 0 0 IGH 0 broad.mit.edu 37 16 33020702 33020702 + RNA SNP T T G TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr16:33020702T>G uc021thd.1 + 0 c.50T>G Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h. GGGGGGTCCCTGAGACTGTCC 0.582000 59 137 0 0 1 0 0 CLK1 1195 broad.mit.edu 37 2 201719735 201719735 + Missense_Mutation SNP C C A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr2:201719735C>A uc010zhi.1 - 9 1593 c.1258G>T c.(1258-1260)Gta>Tta p.V420L CLK1_uc002uwe.2_Missense_Mutation_p.V378L|CLK1_uc002uwf.2_Missense_Mutation_p.V152L|CLK1_uc002uwg.2_Missense_Mutation_p.V227L NM_001162407 NP_004062 P49759 CLK1_HUMAN Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA. 378 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 ACTGGAAATACGGTAAACCCA 0.388000 48 80 0 0 1 0 0 TROVE2 6738 broad.mit.edu 37 1 193038698 193038698 + Missense_Mutation SNP A A G TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr1:193038698A>G uc001gss.3 + 1 890 c.514A>G c.(514-516)Aaa>Gaa p.K172E TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.K172E|TROVE2_uc009wyp.3_Missense_Mutation_p.K172E|TROVE2_uc001gsw.3_Missense_Mutation_p.K172E|TROVE2_uc009wyq.3_Missense_Mutation_p.K172E|TROVE2_uc001gsx.2_Missense_Mutation_p.K172E NM_001173524 NP_004591 P10155 RO60_HUMAN Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA. 172 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex RNA binding|protein binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 TACAAAATATAAACAGAGAAA 0.458000 43 110 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86697783 86697783 + Missense_Mutation SNP G G T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr15:86697783G>T uc002blz.1 + 2 327 c.247G>T c.(247-249)Gcc>Tcc p.A83S NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 83 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCGTGTGTTTGCCTCCAGTGG 0.522000 6 42 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653565 5653565 + Missense_Mutation SNP G G C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr11:5653565G>C uc001mbf.3 + 7 1329 c.1066G>C c.(1066-1068)Gct>Cct p.A356P HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbh.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.A2P NM_001003819 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA. 356 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CAGTGCAATGGCTTCAAAAAT 0.517000 OREG0003725 type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 23 124 0 0 1 0 0 SNTB2 6645 broad.mit.edu 37 16 69279566 69279566 + Silent SNP G G A rs143099113 TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr16:69279566G>A uc002ewu.3 + 1 662 c.642G>A c.(640-642)ccG>ccA p.P214P SNTB2_uc021tkg.1_Non-coding_Transcript NM_006750 NP_006741 Q13425 SNTB2_HUMAN Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA. 214 PH 1. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) CAGATCTGCCGTGGGAAGGTG 0.448000 107 263 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179302050 179302050 + Missense_Mutation SNP G G A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr5:179302050G>A uc003mlh.3 - 11 2073 c.2038C>T c.(2038-2040)Ccc>Tcc p.P680S TBC1D9B_uc003mli.3_Missense_Mutation_p.P680S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P680S|TBC1D9B_uc011dgv.2_5'Flank NM_198868 NP_942568 Q66K14 TBC9B_HUMAN Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA. 680 Rab-GAP TBC. integral to membrane|intracellular Rab GTPase activator activity|calcium ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCTCGAAGGGCATGACGCTG 0.602000 4 130 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50961303 50961303 + Missense_Mutation SNP G G T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr22:50961303G>T uc003blx.4 + 17 1604 c.1482G>T c.(1480-1482)caG>caT p.Q494H NCAPH2_uc003blv.3_Missense_Mutation_p.Q493H|NCAPH2_uc003blr.4_Missense_Mutation_p.Q493H NM_001185011 NP_001171940 Q6IBW4 CNDH2_HUMAN Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA. 493 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) AGCTGAGCCAGCGCATCAGGG 0.647000 5 59 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110454843 110454843 + Splice_Site SNP T T A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr4:110454843T>A uc011cfp.2 + 23 3733 c.3678_splice c.e23+2 p.M1226_splice SEC24B_uc003hzk.3_Splice_Site_p.M1196_splice|SEC24B_uc003hzl.3_Splice_Site_p.M1161_splice|SEC24B_uc011cfq.2_Splice_Site_p.M1195_splice|SEC24B_uc011cfr.2_Splice_Site_p.M1160_splice NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 1196 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAGAAAATGGTCAGTAGATTT 0.284000 27 188 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56181836 56181836 + Missense_Mutation SNP C C G TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr5:56181836C>G uc003jqw.4 + 16 4561 c.4060C>G c.(4060-4062)Ctc>Gtc p.L1354V NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 1354 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TGAACAGTTACTCCGTGGCCT 0.338000 3 139 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805633 70805633 + Missense_Mutation SNP T T C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr5:70805633T>C uc003kbp.1 + 16 2977 c.2714T>C c.(2713-2715)aTg>aCg p.M905T BDP1_uc003kbn.1_Missense_Mutation_p.M905T|BDP1_uc003kbo.3_Missense_Mutation_p.M905T NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 905 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTGAAAGCAATGGGAAGAGAG 0.418000 32 86 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719096 52719096 + Missense_Mutation SNP T T A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr19:52719096T>A uc002pyp.3 + 6 1167 c.872T>A c.(871-873)aTg>aAg p.M291K PPP2R1A_uc010ydk.2_Missense_Mutation_p.M236K|PPP2R1A_uc010epm.1_Missense_Mutation_p.M331K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.M112K NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 291 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) cagaacCTGATGAAAGACTGT 0.612000 Mis clear cell ovarian carcinoma 4 137 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433491 140433491 + Missense_Mutation SNP G G T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr5:140433491G>T uc003lik.1 + 0 2513 c.2436G>T c.(2434-2436)caG>caT p.Q812H NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 812 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCATGACCAGGTATCTGATG 0.418000 31 139 0 0 1 0 0 MALSU1 115416 broad.mit.edu 37 7 23349054 23349054 + Silent SNP T T C TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr7:23349054T>C uc003swd.1 + 3 629 c.597T>C c.(595-597)taT>taC p.Y199Y MALSU1_uc003swe.3_Non-coding_Transcript NM_138446 NP_612455 Q96EH3 CG030_HUMAN Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA. 199 mitochondrion TACGTTCTTATGATGACCAGT 0.403000 12 154 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560437 44560437 + Missense_Mutation SNP C C T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr18:44560437C>T uc002lcr.1 - 0 1552 c.1199G>A c.(1198-1200)gGa>gAa p.G400E KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 400 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCAGATTTTCCAGTCTTTTT 0.478000 50 164 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21928276 21928276 + Missense_Mutation SNP G G A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr1:21928276G>A uc001bev.3 - 17 1826 c.1808C>T c.(1807-1809)gCt>gTt p.A603V RAP1GAP_uc001bew.3_Missense_Mutation_p.A582V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A544V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A518V NM_001145657 NP_001139129 P47736 RPGP1_HUMAN Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA. 518 regulation of Ras GTPase activity|signal transduction Golgi membrane|cytosol|membrane fraction GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CTTCTGACCAGCCGGAGGGCT 0.667000 12 65 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579878 35579878 + Nonsense_Mutation SNP T T A TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr1:35579878T>A uc001bym.3 + 9 2593 c.2447T>A c.(2446-2448)tTa>tAa p.L816* ZMYM1_uc001byn.3_Nonsense_Mutation_p.L816*|ZMYM1_uc010ohu.2_Nonsense_Mutation_p.L797*|ZMYM1_uc001byo.3_Nonsense_Mutation_p.L456*|ZMYM1_uc009vut.3_Nonsense_Mutation_p.L741* NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA. 816 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GATCGTACATTACTATCTGTG 0.343000 4 121 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134648162 134648162 + Missense_Mutation SNP C C T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr10:134648162C>T uc021qbc.1 - 47 6963 c.6862G>A c.(6862-6864)Gcc>Acc p.A2288T NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 449 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CAGTACCTGGCCTTGGAGAGG 0.637000 4 20 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155029547 155029547 + Missense_Mutation SNP C C T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr1:155029547C>T uc001fgr.1 + 10 1219 c.1118C>T c.(1117-1119)gCc>gTc p.A373V LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Missense_Mutation_p.A58V|ADAM15_uc010pet.1_Missense_Mutation_p.A357V|ADAM15_uc010peu.1_Missense_Mutation_p.A390V|ADAM15_uc001fgx.1_Missense_Mutation_p.A373V|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.A373V|ADAM15_uc001fgs.1_Missense_Mutation_p.A373V|ADAM15_uc010pev.1_Missense_Mutation_p.A383V|ADAM15_uc001fgu.1_Missense_Mutation_p.A373V|ADAM15_uc001fgv.1_Missense_Mutation_p.A373V|ADAM15_uc001fgw.1_Missense_Mutation_p.A373V NM_207197 NP_997080 Q13444 ADA15_HUMAN Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA. 373 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCAGCCCCAGCCAAGACCTGC 0.642000 13 52 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48749054 48749054 + Missense_Mutation SNP C C T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr8:48749054C>T uc003xqi.3 - 58 7850 c.7793G>A c.(7792-7794)aGt>aAt p.S2598N PRKDC_uc003xqj.3_Missense_Mutation_p.S2598N NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 2599 KIP-binding. R -> Q (in dbSNP:rs55923149). 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) GAGAACAGTACTTCGGAAACG 0.463000 Non-homologous end-joining 3 26 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120575209 120575209 + Missense_Mutation SNP C C T TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr8:120575209C>T uc003yos.2 - 24 2551 c.2465G>A c.(2464-2466)aGc>aAc p.S822N ENPP2_uc011lic.2_Missense_Mutation_p.S308N|ENPP2_uc003yor.2_Missense_Mutation_p.S405N|ENPP2_uc010mdd.2_Missense_Mutation_p.S795N|ENPP2_uc003yot.2_Missense_Mutation_p.S770N NM_006209 NP_006200 Q13822 ENPP2_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA. 770 G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGTGATGATGCTGTAGTAGTG 0.507000 8 68 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40092678 40092678 + Missense_Mutation SNP G G A rs139668981 byFrequency TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr1:40092678G>A uc001cdp.3 - 4 539 c.488C>T c.(487-489)tCg>tTg p.S163L HEYL_uc010oiw.2_Missense_Mutation_p.S135L NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA. 163 Pro-rich. Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGGCGTGGGCGAAGGCTCCAT 0.652000 40 51 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89711928 89711928 + Frame_Shift_Del DEL A A - TCGA-BJ-A0Z0-01A-11D-A10S-08 TCGA-BJ-A0Z0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae1da8dd-8775-4fda-b7c0-0b6b132507b9 21f02008-1bd8-4ea7-8191-2a5332832fc6 g.chr10:89711928delA uc001kfb.3 + 5 1578 c.546delA c.(544-546)ttafs p.L182fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 182 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GCTACCTGTTAAAGAATCATC 0.388 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 87 77 --- --- --- ---