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 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 5 74 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 54 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233990613 233990613 + Missense_Mutation SNP A A T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr2:233990613A>T ENST00000359570.5 + 4 508 c.508A>T c.(508-510)Agc>Tgc p.S170C INPP5D_ENST00000538935.1_Missense_Mutation_p.S170C|INPP5D_ENST00000474278.1_3'UTR Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 170 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCGACTGCAAAGCATGGACAC 0.602000 7 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074980 9074980 + Missense_Mutation SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr19:9074980T>C ENST00000397910.4 - 3 12669 c.12466A>G c.(12466-12468)Acc>Gcc p.T4156A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4158 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGAGCTGGTTTCTTCCACA 0.493000 20 104 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135106617 135106617 + Missense_Mutation SNP G G C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chrX:135106617G>C ENST00000370695.4 + 12 1626 c.1591G>C c.(1591-1593)Gca>Cca p.A531P SLC9A6_ENST00000370698.3_Missense_Mutation_p.A499P|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A479P NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 499 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGGCACCACTGCAATGCTGTC 0.393000 58 151 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862898 5862898 + Missense_Mutation SNP G G A rs139412237 by1000genomes TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr11:5862898G>A ENST00000329322.5 - 1 229 c.230C>T c.(229-231)aCg>aTg p.T77M TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.T81M NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGGTGGCCGTAGACAAGCT 0.448000 4 191 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 4 29 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50050234 50050234 + Nonsense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr12:50050234G>A ENST00000335154.5 - 9 1071 c.838C>T c.(838-840)Cga>Tga p.R280* FMNL3_ENST00000550488.1_Nonsense_Mutation_p.R280*|FMNL3_ENST00000293590.5_Nonsense_Mutation_p.R280*|FMNL3_ENST00000352151.5_Nonsense_Mutation_p.R229* NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 280 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TGACCTCCTCGCACCAAACAC 0.507000 3 52 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43311541 43311541 + Silent SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:43311541G>A ENST00000331495.3 + 6 924 c.588G>A c.(586-588)gtG>gtA p.V196V FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V196V NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 196 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CCTCCTCCGTGCCCAAAAGCC 0.572000 44 66 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16812982 16812982 + RNA SNP A A C rs139388756 by1000genomes TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:16812982A>C ENST00000263511.4 - 0 1329 NR_023386.1 AGGTCCTTCTAGTGGAGCACC 0.667000 3 13 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80043235 80043235 + Missense_Mutation SNP A A T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:80043235A>T ENST00000306749.2 - 24 4384 c.4166T>A c.(4165-4167)gTg>gAg p.V1389E NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1389 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTTCAGGCCCACCAGGCGCAG 0.701000 6 15 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 3 32 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130106562 130106562 + Missense_Mutation SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr9:130106562A>G ENST00000373387.4 + 15 1652 c.1300A>G c.(1300-1302)Aag>Gag p.K434E GARNL3_ENST00000314904.5_Missense_Mutation_p.K434E|GARNL3_ENST00000435213.2_Missense_Mutation_p.K412E NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 434 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 AGAGTCACCCAAGTCAGCGCG 0.423000 17 280 0 0 1 0 0 SNAI2 6591 broad.mit.edu 37 8 49832563 49832563 + Missense_Mutation SNP C C T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr8:49832563C>T ENST00000396822.1 - 3 874 c.517G>A c.(517-519)Gcc>Acc p.A173T SNAI2_ENST00000020945.1_Missense_Mutation_p.A173T O43623 SNAI2_HUMAN snail family zinc finger 2 173 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) ATCTTCAGGGCGCCCAGGCTC 0.483000 34 52 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150278070 150278070 + Missense_Mutation SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr5:150278070T>C ENST00000427179.1 - 4 288 c.62A>G c.(61-63)gAg>gGg p.E21G ZNF300_ENST00000446148.2_Missense_Mutation_p.E37G|ZNF300_ENST00000394226.2_Missense_Mutation_p.E21G|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.E21G Q96RE9 ZN300_HUMAN zinc finger protein 300 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGCTGCCACTCCTCCTGGGT 0.463000 42 224 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54776381 54776381 + Missense_Mutation SNP G G A rs149644769 byFrequency TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chrX:54776381G>A ENST00000218436.6 - 13 3918 c.3889C>T c.(3889-3891)Cgc>Tgc p.R1297C NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1297 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ACATGAGAGCGCTTCACCAGC 0.577000 4 57 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117234990 117234990 + Missense_Mutation SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr7:117234990T>C ENST00000003084.6 + 15 2629 c.2497T>C c.(2497-2499)Ttt>Ctt p.F833L CFTR_ENST00000454343.1_Missense_Mutation_p.F772L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 833 F -> L (in Ref. 1; AAA35680). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCAGGAGTGCTTTTTTGATGA 0.323000 Cystic Fibrosis 3 107 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180849246 180849246 + Missense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:180849246G>A ENST00000367590.4 + 14 2041 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K XPR1_ENST00000367589.3_Missense_Mutation_p.E550K NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 615 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CCTGGAGAATGAACATCTGAA 0.458000 45 51 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 4 145 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208234068 208234068 + Missense_Mutation SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:208234068A>G ENST00000367033.3 - 13 3458 c.2701T>C c.(2701-2703)Tgc>Cgc p.C901R NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 901 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) AGGGGCGTGCAGGGCACCCCA 0.637000 3 52 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160225058 160225058 + Missense_Mutation SNP G G C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr6:160225058G>C ENST00000275275.5 + 5 448 c.277G>C c.(277-279)Gaa>Caa p.E93Q PNLDC1_ENST00000392167.3_Missense_Mutation_p.E104Q NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 93 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTTGGACTCAGAATTCTCCTT 0.398000 100 184 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130253549 130253549 + Missense_Mutation SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr9:130253549A>G ENST00000323301.4 + 19 2082 c.1478A>G c.(1477-1479)aAg>aGg p.K493R LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.K493R|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000300417.6_Missense_Mutation_p.K493R NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 493 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 TTAAAGAGGAAGTCCCTGGAC 0.507000 4 75 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40268678 40268678 + Silent SNP C C A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr15:40268678C>A ENST00000263791.5 + 12 1925 c.1882C>A c.(1882-1884)Cgg>Agg p.R628R EIF2AK4_ENST00000382727.2_Silent_p.R628R NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 628 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCCGGCCAGCCGGCAGTTCCG 0.632000 3 79 1 1 1 1 0 SPOP 8405 broad.mit.edu 37 17 47696667 47696667 + Missense_Mutation SNP G G C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:47696667G>C ENST00000393331.3 - 6 751 c.281C>G c.(280-282)cCa>cGa p.P94R SPOP_ENST00000504102.1_Missense_Mutation_p.P94R|SPOP_ENST00000503676.1_Missense_Mutation_p.P94R|SPOP_ENST00000393328.2_Missense_Mutation_p.P94R|SPOP_ENST00000347630.2_Missense_Mutation_p.P94R NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 94 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTCACTCTTTGGACAGCTGAC 0.413000 Prostate(2;0.17) 45 89 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497311 21497311 + RNA SNP C C T rs138516990 by1000genomes TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr5:21497311C>T ENST00000607545.1 + 0 179 NR_027026.1 ACCAGGTAAGCGGTGTTGAAC 0.537000 6 37 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26508106 26508106 + Missense_Mutation SNP C C T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr10:26508106C>T ENST00000376261.3 + 4 924 c.421C>T c.(421-423)Ctt>Ttt p.L141F GAD2_ENST00000259271.3_Missense_Mutation_p.L141F|GAD2_ENST00000376248.1_Missense_Mutation_p.L27F NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 141 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TCCTAATGAGCTTCTCCAAGA 0.343000 20 174 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17914071 17914071 + Missense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:17914071G>A ENST00000361221.3 + 3 313 c.154G>A c.(154-156)Gtc>Atc p.V52I ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V52I NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 52 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGCCCTGGGCGTCCCCAGCCT 0.597000 5 304 0 0 1 0 0 TTC36 143941 broad.mit.edu 37 11 118398234 118398234 + Missense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr11:118398234G>A ENST00000302783.4 + 1 48 c.25G>A c.(25-27)Gtg>Atg p.V9M RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA NM_001080441.1 NP_001073910.1 A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 9 binding lung(2) 2 TGATCAGGCAGTGCTGCAGGC 0.537000 4 285 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9463306 9463306 + Missense_Mutation SNP C C G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr2:9463306C>G ENST00000281419.3 + 6 867 c.527C>G c.(526-528)aCt>aGt p.T176S ASAP2_ENST00000315273.4_Missense_Mutation_p.T176S NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 176 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ATGATTCGGACTGAAATAAGC 0.498000 88 137 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24580196 24580196 + Missense_Mutation SNP C C A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr22:24580196C>A ENST00000358321.3 + 4 793 c.532C>A c.(532-534)Ctc>Atc p.L178I NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 178 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CTCAGGCAACCTCAGCCTGAC 0.597000 3 87 1 1 1 1 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 4 28 0.000602214 0.000662436 1 1 0 PCDHA3 0 broad.mit.edu 37 5 140180926 140180926 + Silent SNP C C A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr5:140180926C>A ENST00000522353.2 + 1 144 c.144C>A c.(142-144)atC>atA p.I48I PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I48I|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCGCATCGCGCAGGACC 0.647000 4 142 0.150653 0.161677 1 1 0 LCT 3938 broad.mit.edu 37 2 136574959 136574959 + Silent SNP G G A rs142388926 TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr2:136574959G>A ENST00000264162.2 - 6 1669 c.1659C>T c.(1657-1659)acC>acT p.T553T NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 553 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTGCTGGCCGGTGCCATAGC 0.572000 3 94 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7044507 7044509 + In_Frame_Del DEL CTC CTC - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr4:7044507_7044509delCTC ENST00000310085.4 - 1 219_221 c.157_159delGAG c.(157-159)del p.E53del RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 53 Glu-rich. endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 AAGCCGCTTGCTCCTCCTCCTCC 0.729 3 6 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 7 538 --- --- --- --- TG 7038 broad.mit.edu 37 8 133899146 133899149 + Frame_Shift_Del DEL TGAA TGAA - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr8:133899146_133899149delTGAA ENST00000220616.4 + 9 1569_1572 c.1529_1532delTGAA c.(1528-1533)ttfs p.LN510fs TG_ENST00000377869.1_Frame_Shift_Del_p.LN510fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 510 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) GCAAGCTTCTTGAATGGAGGGAGA 0.451 35 54 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8733812 8733814 + In_Frame_Del DEL AGC AGC - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr9:8733812_8733814delAGC ENST00000381196.4 - 9 573_575 c.30_32delGCT c.(28-33)ctc>ct p.LL10del PTPRD_ENST00000486161.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000356435.5_In_Frame_Del_p.LL10del|PTPRD_ENST00000355233.5_In_Frame_Del_p.LL10del|PTPRD_ENST00000397606.3_In_Frame_Del_p.LL10del|PTPRD_ENST00000397611.3_In_Frame_Del_p.LL10del|PTPRD_ENST00000397617.3_In_Frame_Del_p.LL10del|PTPRD_ENST00000463477.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000540109.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000360074.4_In_Frame_Del_p.LL10del|PTPRD_ENST00000537002.1_In_Frame_Del_p.LL10del|PTPRD_ENST00000358503.5_In_Frame_Del_p.LL10del NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 10 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAAAGTGAGGAGCAGCAGCAGCA 0.591 TSP Lung(15;0.13) 2 4 --- --- --- --- SF3B2 10992 broad.mit.edu 37 11 65836145 65836146 + Splice_Site INS - - A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr11:65836145_65836146insA ENST00000528302.1 + 21 2620_2621 c.2565_splice c.e21-1 p.K856_splice RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Splice_Site_p.K873_splice Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 873 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCTATACAGCAAAAAAAACGG 0.515 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 107 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 7 131 --- --- --- --- AC006293.3 0 broad.mit.edu 37 19 55221804 55221805 + RNA INS - - AC rs45583536 TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr19:55221804_55221805insAC ENST00000413439.1 + 0 1415 CAGAGACAGAGACTGAGGGTCC 0.614 3 3 --- --- --- ---