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 WDR7 23335 broad.mit.edu 37 18 54547245 54547245 + Silent SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr18:54547245C>A ENST00000254442.3 + 21 3586 c.3375C>A c.(3373-3375)acC>acA p.T1125T WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.T1092T NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1125 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AGCAAGCTACCGCTATTGTTT 0.398000 3 45 1 1 1 1 0 DIP2A 23181 broad.mit.edu 37 21 47971767 47971767 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr21:47971767C>T ENST00000318711.7 + 25 3166 c.2983C>T c.(2983-2985)Cgt>Tgt p.R995C DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 994 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCTGCAGTGGCGTGCCCACAC 0.662000 5 25 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75812377 75812377 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:75812377G>A ENST00000322507.8 - 56 8660 c.8351C>T c.(8350-8352)cCt>cTt p.P2784L COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2784 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGGCCTGGAGGACCTATGTC 0.502000 13 8 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123091780 123091780 + Translation_Start_Site SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:123091780G>A ENST00000264501.4 + 0 351 KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame Q2LD37 K1109_HUMAN KIAA1109 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCCTTTAGATGTTGTTCTGGA 0.279000 10 7 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 41002342 41002342 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:41002342C>A ENST00000253799.3 + 4 2275 c.2248C>A c.(2248-2250)Cct>Act p.P750T AOC2_ENST00000452774.2_Missense_Mutation_p.P723T NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 750 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGACTTACCCCCTTTCTCTTA 0.557000 5 255 2.0095e-06 2.32132e-06 1 1 0 FASN 2194 broad.mit.edu 37 17 80046850 80046850 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:80046850G>T ENST00000306749.2 - 14 2517 c.2299C>A c.(2299-2301)Ctg>Atg p.L767M NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 767 Acyl and malonyl transferases (By similarity). 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) CCTACCTGCAGCAGGGCGTGG 0.697000 7 9 0.00448238 0.00492327 1 1 0 TAOK2 9344 broad.mit.edu 37 16 29998886 29998886 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr16:29998886G>A ENST00000308893.4 + 16 4336 c.3293G>A c.(3292-3294)cGg>cAg p.R1098Q TAOK2_ENST00000543033.1_Missense_Mutation_p.R985Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R925Q|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1098 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ATGGCCTTCCGGGCCCTGCAG 0.701000 8 106 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155282 22155282 + Missense_Mutation SNP T T C TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:22155282T>C ENST00000397126.4 - 4 2702 c.2554A>G c.(2554-2556)Aag>Gag p.K852E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAATTACCTTATGTTTAGTA 0.373000 3 77 0 0 1 0 0 EI24 9538 broad.mit.edu 37 11 125450015 125450015 + Silent SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:125450015C>A ENST00000278903.6 + 8 830 c.588C>A c.(586-588)atC>atA p.I196I EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 196 I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions). apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TCTTTCCCATCCATCTTGTCG 0.423000 104 179 4.07704e-43 5.15399e-43 1 1 0 MAS1 4142 broad.mit.edu 37 6 160328313 160328313 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:160328313C>T ENST00000252660.4 + 1 340 c.326C>T c.(325-327)tCa>tTa p.S109L NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 109 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) GTCACATTATCAGTGACTTTT 0.453000 34 88 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85097149 85097149 + Translation_Start_Site SNP A A T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr8:85097149A>T ENST00000517638.1 + 0 40 RALYL_ENST00000518566.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000521695.1_Intron|RALYL_ENST00000521268.1_Intron NM_001100391.1 NP_001093861.1 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GCTCCAGGCCACGCGAGCCGG 0.657000 11 18 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18625328 18625328 + Missense_Mutation SNP T T C TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr18:18625328T>C ENST00000399799.1 - 5 1455 c.515A>G c.(514-516)gAa>gGa p.E172G NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 172 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TGCCCATTTTTCAGGCACATC 0.368000 8 5 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30078314 30078314 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:30078314C>T ENST00000376734.3 - 4 780 c.655G>A c.(655-657)Gcc>Acc p.A219T TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 219 ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165). mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TCAGTGGAGGCAACATAGTGT 0.522000 5 145 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100534204 100534204 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:100534204C>T ENST00000457717.1 + 16 2380 c.2124C>T c.(2122-2124)aaC>aaT p.N708N MTTP_ENST00000511045.1_Silent_p.N735N|MTTP_ENST00000265517.5_Silent_p.N708N|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 708 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.N708N(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCTTTTTCAACGGATACAGTG 0.478000 3 78 0 0 1 0 0 ASB17 127247 broad.mit.edu 37 1 76397716 76397716 + Silent SNP G G A rs11811988 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr1:76397716G>A ENST00000284142.6 - 1 400 c.261C>T c.(259-261)ctC>ctT p.L87L NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 87 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 CAGTGAAGTCGAGGTTAAAAC 0.378000 17 28 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183778109 183778109 + Missense_Mutation SNP T T A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:183778109T>A ENST00000318351.1 + 9 1347 c.1313T>A c.(1312-1314)aTc>aAc p.I438N NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 438 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCTCCTCCATCCTTACTGTC 0.567000 90 170 0 0 1 0 0 AC005609.1 0 broad.mit.edu 37 5 140242415 140242415 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:140242415C>T ENST00000502505.1 - 1 809 c.561G>A c.(559-561)gcG>gcA p.A187A PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron GAGCGCGCGACGCGGGCATGC 0.637000 8 33 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035976 37035976 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:37035976G>A ENST00000379242.3 + 15 2053 c.1751G>A c.(1750-1752)aGt>aAt p.S584N VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 569 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GGCTACTGGAGTGGTGGCACC 0.567000 3 64 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39783026 39783026 + Silent SNP A A G TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr1:39783026A>G ENST00000564288.1 + 29 4506 c.3729A>G c.(3727-3729)aaA>aaG p.K1243K MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K|MACF1_ENST00000361689.2_Silent_p.K1248K|MACF1_ENST00000372915.3_Silent_p.K1248K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1248 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCAGGAAAAAGGCTCCCAGC 0.542000 3 36 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115856461 115856461 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:115856461G>T ENST00000264363.2 - 6 2115 c.1437C>A c.(1435-1437)ttC>ttA p.F479L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 479 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TAGTGTGAGTGAACAACCCAC 0.413000 18 38 6.94344e-10 8.16159e-10 1 1 0 MUC16 94025 broad.mit.edu 37 19 9005698 9005698 + Silent SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:9005698G>A ENST00000397910.4 - 46 39911 c.39708C>T c.(39706-39708)gaC>gaT p.D13236D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13238 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.D388D(1)|p.D13236D(1) 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 TGCAGATGGCGTCCACTCTGG 0.572000 13 25 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48058097 48058097 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr15:48058097G>T ENST00000316364.5 + 14 1898 c.1459G>T c.(1459-1461)Gtc>Ttc p.V487F SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 487 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGACAAAAAGGTCATCTCATT 0.428000 28 50 2.81731e-10 3.37071e-10 1 1 0 ADCY2 108 broad.mit.edu 37 5 7414748 7414748 + Silent SNP G G A rs149944070 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:7414748G>A ENST00000338316.4 + 2 362 c.273G>A c.(271-273)gcG>gcA p.A91A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 91 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTTTCTTTGCGATATTTATCC 0.428000 6 148 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57436930 57436930 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr12:57436930G>A ENST00000442789.2 - 13 1311 c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W MYO1A_ENST00000300119.3_Missense_Mutation_p.R342W|MYO1A_ENST00000544473.1_Missense_Mutation_p.R180W NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 342 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AGGGCGTCCCGAGCATACTGA 0.542000 5 80 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49935036 49935036 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:49935036C>T ENST00000296474.3 - 6 1990 c.1963G>A c.(1963-1965)Gtc>Atc p.V655I MST1R_ENST00000344206.4_Missense_Mutation_p.V655I NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 655 IPT/TIG 1. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GTGAGGCTGACGTTGGTAGGC 0.607000 4 67 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881544 228881544 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:228881544C>T ENST00000392056.3 - 7 4072 c.4026G>A c.(4024-4026)tcG>tcA p.S1342S SPHKAP_ENST00000344657.5_Silent_p.S1342S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1342 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTCTGCTTGCGAGGGAGAGC 0.527000 7 48 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43708257 43708257 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:43708257G>T ENST00000405312.3 - 2 448 c.211C>A c.(211-213)Caa>Aaa p.Q71K PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 71 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TATGTCATTTGCCCTTTGTAC 0.418000 73 144 2.23852e-25 2.77743e-25 1 1 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170018 20170018 + RNA SNP C C G rs140304162 by1000genomes TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr15:20170018C>G ENST00000338912.5 - 0 253 p.G85A(1) GGTGACTCTGCCCTGGAACTT 0.547000 3 153 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76532380 76532380 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:76532380C>T ENST00000429927.2 - 4 1232 c.529G>A c.(529-531)Gtc>Atc p.V177I CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 177 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CCATACTTGACATCACCAACC 0.418000 41 54 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61891049 61891049 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr16:61891049G>T ENST00000577390.1 - 4 1595 c.641C>A c.(640-642)cCt>cAt p.P214H CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 214 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGAAAAATAAGGCTGCCCTTC 0.403000 8 43 0.0477658 0.0507985 1 1 0 GIMAP8 155038 broad.mit.edu 37 7 150174547 150174547 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr7:150174547C>T ENST00000307271.3 + 5 2251 c.1677C>T c.(1675-1677)taC>taT p.Y559Y NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 559 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TTACGAAATACGCGATTATGC 0.473000 7 114 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13697085 13697085 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:13697085C>T ENST00000011619.3 - 2 673 c.615G>A c.(613-615)acG>acA p.T205T NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 205 B30.2/SPRY. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) GTATTGGATGCGTGGCTCGAA 0.403000 5 129 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21564710 21564710 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr1:21564710C>A ENST00000415912.2 - 11 1383 c.1258G>T c.(1258-1260)Gtg>Ttg p.V420L ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Missense_Mutation_p.V436L|ECE1_ENST00000436918.2_Missense_Mutation_p.V436L|ECE1_ENST00000357071.4_Missense_Mutation_p.V424L|ECE1_ENST00000264205.6_Missense_Mutation_p.V433L NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 436 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GTGTCACTCACGCAAAACTTC 0.552000 3 33 0.150653 0.155289 1 1 0 DOK1 1796 broad.mit.edu 37 2 74783766 74783766 + Missense_Mutation SNP C C G TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:74783766C>G ENST00000233668.5 + 5 1640 c.971C>G c.(970-972)gCt>gGt p.A324G DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 324 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGCACGTCTGCTCAGGCAGGA 0.567000 26 100 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766321 27766321 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chrX:27766321C>A ENST00000451261.2 + 5 1708 c.1309C>A c.(1309-1311)Ctg>Atg p.L437M NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TGGCACAGAGCTGCTAGCCAG 0.428000 3 42 0.184627 0.187425 1 1 0 DLG4 1742 broad.mit.edu 37 17 7096378 7096378 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:7096378C>T ENST00000399510.2 - 19 2733 c.1881G>A c.(1879-1881)tcG>tcA p.S627S DLG4_ENST00000399506.2_Silent_p.S584S|DLG4_ENST00000302955.6_Silent_p.S581S NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 584 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TCTCCCGGGACGACACAAAGT 0.567000 55 39 0 0 1 0 0 PLSCR1 5359 broad.mit.edu 37 3 146246434 146246434 + Silent SNP T T C TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:146246434T>C ENST00000342435.4 - 4 689 c.279A>G c.(277-279)ttA>ttG p.L93L PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 93 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GTGGACAGTTTAATGGAGGCT 0.428000 65 99 0 0 1 0 0 CARD18 59082 broad.mit.edu 37 11 105009575 105009575 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:105009575C>A ENST00000530950.1 - 2 237 c.238G>T c.(238-240)Gac>Tac p.D80Y CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 80 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 AGTTGAGGGTCTTCTTCACAG 0.408000 24 179 1.32003e-05 1.49902e-05 1 1 0 OTX1 5013 broad.mit.edu 37 2 63282957 63282957 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:63282957G>A ENST00000282549.2 + 5 847 c.571G>A c.(571-573)Gtg>Atg p.V191M OTX1_ENST00000366671.3_Missense_Mutation_p.V191M NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 191 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) GCCCGCGTCCGTGTCGGTGCC 0.682000 3 16 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27692213 27692213 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr10:27692213C>T ENST00000438700.3 - 3 1402 c.1285G>A c.(1285-1287)Ggc>Agc p.G429S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 429 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AGGCCAAAGCCGCTCACCACT 0.453000 8 95 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101154018 101154018 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr8:101154018C>T ENST00000428847.2 - 2 780 c.464G>A c.(463-465)cGc>cAc p.R155H NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 155 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CAACCTTCTGCGAGGTAAACA 0.343000 47 70 0 0 1 0 0 FIBP 9158 broad.mit.edu 37 11 65652991 65652991 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:65652991G>A ENST00000338369.2 - 5 768 c.656C>T c.(655-657)cCc>cTc p.P219L FIBP_ENST00000357519.4_Intron|FIBP_ENST00000533045.1_Intron NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 219 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) TGGGTCAGTGGGGGCCTCACC 0.582000 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 130 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170885949 170885949 + Missense_Mutation SNP T T A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:170885949T>A ENST00000272793.5 + 31 4597 c.4547T>A c.(4546-4548)aTg>aAg p.M1516K UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1516 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTAGAAGAGATGAATCCACAG 0.318000 13 33 0 0 1 0 0 NTMT1 28989 broad.mit.edu 37 9 132397600 132397600 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr9:132397600G>T ENST00000372486.1 + 4 878 c.529G>T c.(529-531)Gac>Tac p.D177Y NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y N-terminal Xaa-Pro-Lys N-methyltransferase 1 CGTGATTCTGGACGACGTGGA 0.642000 40 78 7.88023e-25 9.59955e-25 1 1 0 HFM1 164045 broad.mit.edu 37 1 91859724 91859724 + Missense_Mutation SNP C C G TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr1:91859724C>G ENST00000370425.3 - 4 518 c.420G>C c.(418-420)aaG>aaC p.K140N HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 140 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CAGGAACACTCTTCTCAGGTG 0.333000 21 66 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129899951 129899951 + Silent SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr10:129899951G>A ENST00000368654.3 - 14 9651 c.9276C>T c.(9274-9276)cgC>cgT p.R3092R MKI67_ENST00000368653.3_Silent_p.R2732R NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3092 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGCGTCTGGAGCGCAGGGATA 0.363000 3 30 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94519560 94519560 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr9:94519560G>A ENST00000375708.3 - 3 655 c.457C>T c.(457-459)Cgg>Tgg p.R153W ROR2_ENST00000375715.1_Missense_Mutation_p.R13W|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 153 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCACCCAGCCGCACAAACAGG 0.537000 3 106 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976777 106976777 + Silent SNP C C T rs143982937 byFrequency TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr10:106976777C>T ENST00000369701.3 + 19 2858 c.2631C>T c.(2629-2631)gaC>gaT p.D877D SORCS3_ENST00000369699.4_Silent_p.D163D NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 877 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCATCGAGGACGGCATCAAGC 0.527000 9 71 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9754286 9754286 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:9754286C>T ENST00000383832.3 + 8 629 c.439C>T c.(439-441)Cgg>Tgg p.R147W CPNE9_ENST00000383831.3_Missense_Mutation_p.R147W NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 147 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) TAGCAATTGTCGGGTCAGTAA 0.532000 44 71 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048456 6048456 + Missense_Mutation SNP G G A rs145606510 byFrequency TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:6048456G>A ENST00000316650.5 - 1 515 c.479C>T c.(478-480)gCg>gTg p.A160V NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTAAGAAGCGCATTCCGCAC 0.493000 8 124 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 3 36 0.115264 0.120667 1 1 0 CAPN3 825 broad.mit.edu 37 15 42679977 42679977 + Silent SNP C C T rs144383442 byFrequency TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr15:42679977C>T ENST00000397163.3 + 4 744 c.525C>T c.(523-525)gaC>gaT p.D175D RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.D175D|CAPN3_ENST00000356316.3_Silent_p.D88D|CAPN3_ENST00000349748.3_Silent_p.D175D|CAPN3_ENST00000318023.7_Silent_p.D175D NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 175 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AGTGGGTGGACGTGGTTATAG 0.493000 35 160 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677690 37677690 + Missense_Mutation SNP G G A rs147861258 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:37677690G>A ENST00000532828.2 - 5 1000 c.749C>T c.(748-750)gCg>gTg p.A250V ZNF585B_ENST00000531805.1_Missense_Mutation_p.A195V|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTGTGTGAACGCTTTGCCACA 0.428000 12 139 0 0 1 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307581 146307581 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:146307581C>T ENST00000443512.1 - 6 1639 c.636G>A c.(634-636)aaG>aaA p.K212K PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5_ENST00000482567.1_Silent_p.K200K NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 212 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CAATTGTAAGCTTTTCATTAA 0.328000 3 53 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:7578555C>T ENST00000420246.2 - 5 508 c.e5-1 TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGAGTACTGTAGGAAGA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 6 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8668748 8668748 + Silent SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:8668748G>A ENST00000270328.4 - 4 722 c.456C>T c.(454-456)gaC>gaT p.D152D ADAMTS10_ENST00000597188.1_Silent_p.D152D|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 152 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 ACTCTTCCTCGTCTGCCACGA 0.572000 11 48 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028507 102028507 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr14:102028507G>A ENST00000359323.3 + 1 820 c.596G>A c.(595-597)cGg>cAg p.R199Q DIO3_ENST00000510508.4_Missense_Mutation_p.R225Q NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 199 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CTGGAGGACCGGGTCAGCGCA 0.642000 8 101 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18863892 18863892 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:18863892G>A ENST00000317977.6 + 5 783 c.212G>A c.(211-213)cGc>cAc p.R71H SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 127 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 ATTCAGAAGCGCTACGGGGGC 0.607000 OREG0024231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 248 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 4 68 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132177694 132177694 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:132177694G>A ENST00000374786.1 + 4 1117 c.638G>A c.(637-639)cGg>cAg p.R213Q NTM_ENST00000374791.3_Missense_Mutation_p.R213Q|NTM_ENST00000539799.1_Missense_Mutation_p.R213Q|NTM_ENST00000374784.1_Missense_Mutation_p.R213Q|NTM_ENST00000425719.2_Missense_Mutation_p.R213Q|NTM_ENST00000427481.2_Missense_Mutation_p.R204Q|NTM_ENST00000474900.1_3'UTR NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 213 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CCCGTGGTACGGAGAGTAAAG 0.582000 7 30 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 27 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 4 6 --- --- --- --- HTT 3064 broad.mit.edu 37 4 3076673 3076675 + In_Frame_Del DEL CCG CCG - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:3076673_3076675delCCG ENST00000355072.5 + 1 266_268 c.121_123delCCG c.(121-123)del p.P49del NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 49 Poly-Pro. establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) acagccgccaccgccgccgccgc 0.744 2 4 --- --- --- --- CTD-2194D22.4 0 broad.mit.edu 37 5 1888283 1888283 + RNA DEL A A - rs260408 by1000genomes TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:1888283delA ENST00000514569.1 + 0 38 TGCCCCCGCCACCTCGCCCCC 0.697 2 4 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 4 5 --- --- --- --- HSPA9 3313 broad.mit.edu 37 5 137892208 137892209 + Frame_Shift_Del DEL TT TT - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:137892208_137892209delTT ENST00000297185.3 - 16 2019_2020 c.1894_1895delAA c.(1894-1896)tfs p.N632fs HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 632 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGTCTAATATTTTCTCCTGTT 0.401 86 100 --- --- --- --- SRSF3 6428 broad.mit.edu 37 6 36566669 36566670 + Frame_Shift_Ins INS - - A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:36566669_36566670insA ENST00000373715.6 + 3 366_367 c.250_251insA c.(250-252)aaafs p.K84fs SRSF3_ENST00000339436.7_Frame_Shift_Ins_p.K84fs NM_003017.4 NP_003008.1 P84103 SRSF3_HUMAN serine/arginine-rich splicing factor 3 84 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2) 7 GTCGAATGGTGAAAAAAGAAGT 0.485 31 106 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 5 2 --- --- --- --- RP11-276H19.2 0 broad.mit.edu 37 9 89628124 89628125 + RNA INS - - A rs35998235 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr9:89628124_89628125insA ENST00000602579.1 - 0 256 NR_027471.1 TGTCTCCCTTCAAAAAAAAAAA 0.366 4 5 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 7 273 --- --- --- --- LINC00558 0 broad.mit.edu 37 13 54394435 54394437 + RNA DEL CAC CAC - rs71826979 TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr13:54394435_54394437delCAC ENST00000569422.1 + 0 75 NR_047488.1 TGAAAaccatcaccaccaccacc 0.374 4 4 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr14:93761193delT ENST00000334746.5 - 3 480 c.173delA c.(172-174)agfs p.K58fs BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGAGGTTCTCTTTTTTTTGTC 0.438 9 104 --- --- --- --- RUNDC1 146923 broad.mit.edu 37 17 41132963 41132963 + Frame_Shift_Del DEL C C - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:41132963delC ENST00000361677.1 + 1 382 c.370delC c.(370-372)ggfs p.R124fs NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 124 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GCGCCTTCTGCGGGAGCTCGA 0.726 2 4 --- --- --- --- YIF1B 90522 broad.mit.edu 37 19 38806529 38806531 + In_Frame_Del DEL GCC GCC - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:38806529_38806531delGCC ENST00000337679.8 - 1 32_34 c.27_29delGGC c.(25-30)gct>gc p.AA9del YIF1B_ENST00000591755.1_In_Frame_Del_p.AA9del|YIF1B_ENST00000592694.1_5'UTR|YIF1B_ENST00000339413.6_In_Frame_Del_p.AA9del NM_001145463.1 NP_001138935.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) 9 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGTCCCCGCAGCCGCCGCCGCCA 0.788 2 4 --- --- --- ---