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 MTOR 2475 broad.mit.edu 37 1 11188164 11188164 + Missense_Mutation SNP G G C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:11188164G>C ENST00000361445.4 - 43 6006 c.5930C>G c.(5929-5931)aCa>aGa p.T1977R MTOR_ENST00000376838.1_Missense_Mutation_p.T182R NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1977 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.T1977R(2)|p.T1977K(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 AGAAGCCACTGTCAGTGGGTA 0.478 10 112 --- --- --- --- RPE65 6121 broad.mit.edu 37 1 68906582 68906582 + Missense_Mutation SNP A A T rs141527042 TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:68906582A>T ENST00000262340.5 - 6 650 c.597T>A c.(595-597)aaT>aaA p.N199K NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 199 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.N199K(1) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 CAATTGAAAAATTTTTTCCAA 0.388 3 102 --- --- --- --- WDR77 79084 broad.mit.edu 37 1 111983947 111983947 + Missense_Mutation SNP G G C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:111983947G>C ENST00000235090.5 - 10 1140 c.934C>G c.(934-936)Ctg>Gtg p.L312V WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 312 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding p.L312V(1) NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GTGGTAAGCAGGGAGTGATTG 0.537 13 130 --- --- --- --- OR10T2 128360 broad.mit.edu 37 1 158368837 158368837 + Silent SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:158368837C>T ENST00000334438.1 - 1 419 c.420G>A c.(418-420)agG>agA p.R140R NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R140R(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CCAACCCCAGCCTTTTGTTTA 0.473 7 202 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158615313 158615313 + Missense_Mutation SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:158615313C>A ENST00000368147.4 - 28 4148 c.3968G>T c.(3967-3969)gGc>gTc p.G1323V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GATCTCTATGCCAGTTAAGTC 0.423 4 181 --- --- --- --- C1orf116 79098 broad.mit.edu 37 1 207195320 207195320 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:207195320C>T ENST00000359470.5 - 4 2038 c.1789G>A c.(1789-1791)Gga>Aga p.G597R C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 597 cytoplasm|plasma membrane receptor activity p.G597R(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TTCAACAGTCCCAGCTTCTTC 0.562 4 106 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969520 237969520 + Missense_Mutation SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr1:237969520C>A ENST00000366574.2 + 99 14552 c.14235C>A c.(14233-14235)gaC>gaA p.D4745E RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4745 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.D4745E(1)|p.D4743E(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACCTTCTCGACATTGCTATGG 0.393 27 77 --- --- --- --- COL3A1 1281 broad.mit.edu 37 2 189874962 189874962 + Silent SNP T T C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr2:189874962T>C ENST00000304636.3 + 49 4052 c.3882T>C c.(3880-3882)tgT>tgC p.C1294C COL3A1_ENST00000317840.5_Silent_p.C991C NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1294 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.C1294C(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGTATTCTGTAATATGGAAA 0.403 45 132 --- --- --- --- SEL1L3 23231 broad.mit.edu 37 4 25783976 25783976 + Missense_Mutation SNP T T C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr4:25783976T>C ENST00000399878.3 - 15 2467 c.2345A>G c.(2344-2346)aAa>aGa p.K782R SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 782 integral to membrane binding p.K782R(1)|p.K629R(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CTTTGCTGCTTTGGCGTAATT 0.418 58 110 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32087621 32087621 + Missense_Mutation SNP G G A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr5:32087621G>A ENST00000438447.1 + 20 4455 c.4067G>A c.(4066-4068)gGt>gAt p.G1356D PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D O15018 PDZD2_HUMAN PDZ domain containing 2 1356 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.G1356D(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGAGCTCCAGGTAACCACAGT 0.597 4 29 --- --- --- --- SLC27A6 28965 broad.mit.edu 37 5 128362928 128362928 + Missense_Mutation SNP T T A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr5:128362928T>A ENST00000262462.4 + 7 2368 c.1358T>A c.(1357-1359)tTt>tAt p.F453Y SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 453 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding p.F453Y(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGTGATGTTTTTAAGAAGGGA 0.393 96 222 --- --- --- --- FBXW11 23291 broad.mit.edu 37 5 171299983 171299983 + Silent SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr5:171299983C>A ENST00000296933.6 - 9 1501 c.1131G>T c.(1129-1131)acG>acT p.T377T FBXW11_ENST00000393802.2_Silent_p.T356T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000265094.5_Silent_p.T390T NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 390 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.T390T(1)|p.T377T(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CACAGGTGCTCGTGCTCCAGA 0.418 3 73 --- --- --- --- DPY19L1 23333 broad.mit.edu 37 7 34981489 34981489 + Missense_Mutation SNP T T A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr7:34981489T>A ENST00000310974.4 - 18 1502 c.1358A>T c.(1357-1359)tAc>tTc p.Y453F NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 453 integral to membrane p.Y453F(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 CAATGCATGGTAAACCAGCTG 0.363 6 203 --- --- --- --- WBSCR17 64409 broad.mit.edu 37 7 71130409 71130409 + Missense_Mutation SNP G G A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr7:71130409G>A ENST00000333538.5 + 7 1728 c.1094G>A c.(1093-1095)gGg>gAg p.G365E WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 365 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.G365E(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGGCTCTGTGGGGGCAGCATG 0.512 15 212 --- --- --- --- DGKI 9162 broad.mit.edu 37 7 137082144 137082144 + Nonsense_Mutation SNP A A T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr7:137082144A>T ENST00000453654.2 - 31 2506 c.1967T>A c.(1966-1968)tTg>tAg p.L656* DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000494390.1_5'UTR O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.L987*(1) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TGCCATATCCAATAACTCGGA 0.333 7 165 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70533358 70533358 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr8:70533358C>T ENST00000260128.4 + 14 2183 c.1466C>T c.(1465-1467)aCg>aTg p.T489M SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 489 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.T489M(1) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CGGCAGAGCACGCGGAACCTC 0.522 22 85 --- --- --- --- NCOA4 8031 broad.mit.edu 37 10 51584833 51584833 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr10:51584833C>T ENST00000452682.1 + 9 1232 c.980C>T c.(979-981)tCc>tTc p.S327F NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 311 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity p.S327F(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CCCCAGGAATCCCATAAGCTG 0.438 T RET papillary thyroid 43 82 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98762741 98762741 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr10:98762741C>T ENST00000266058.4 - 35 4119 c.3874G>A c.(3874-3876)Gtg>Atg p.V1292M SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1292 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.V1292M(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TTGACATCCACGGGCATCCCT 0.627 10 159 --- --- --- --- SFR1 119392 broad.mit.edu 37 10 105882676 105882676 + Silent SNP T T C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr10:105882676T>C ENST00000336358.5 + 1 672 c.153T>C c.(151-153)taT>taC p.Y51Y SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron Q86XK3 SFR1_HUMAN SWI5-dependent recombination repair 1 0 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding AAGTCGACTATAGAGAGGTGT 0.318 14 49 --- --- --- --- ADAM12 8038 broad.mit.edu 37 10 127737879 127737879 + Silent SNP G G A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr10:127737879G>A ENST00000368679.4 - 16 2178 c.1869C>T c.(1867-1869)ggC>ggT p.G623G ADAM12_ENST00000368676.4_Silent_p.G623G NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 623 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding p.G623G(4) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GCATGTCATCGCCCAAGTACA 0.532 139 266 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62286704 62286704 + Missense_Mutation SNP A A C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr11:62286704A>C ENST00000378024.4 - 5 15459 c.15185T>G c.(15184-15186)gTc>gGc p.V5062G AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5062 nervous system development nucleus protein binding p.V5062G(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGCGATGTTGACATCTACATC 0.463 7 408 --- --- --- --- B3GAT3 26229 broad.mit.edu 37 11 62389399 62389399 + Missense_Mutation SNP G G T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr11:62389399G>T ENST00000531383.1 - 1 227 c.21C>A c.(19-21)aaC>aaA p.N7K B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 7 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding p.N7K(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 CGAGAAACACGTTCTTCAGCT 0.726 9 19 --- --- --- --- MAP6 4135 broad.mit.edu 37 11 75316878 75316878 + Missense_Mutation SNP T T G TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr11:75316878T>G ENST00000434603.2 - 3 1355 c.1291A>C c.(1291-1293)Aac>Cac p.N431H MAP6_ENST00000526740.1_Missense_Mutation_p.N102H|MAP6_ENST00000304771.3_Missense_Mutation_p.N431H NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 431 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding p.N431H(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) AGTTTATTGTTCATCTCTTTG 0.488 5 257 --- --- --- --- RPGRIP1 57096 broad.mit.edu 37 14 21796693 21796693 + Nonsense_Mutation SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr14:21796693C>A ENST00000206660.6 + 18 3006 c.3006C>A c.(3004-3006)taC>taA p.Y1002* RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964* Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 1002 Interaction with RPGR. response to stimulus|visual perception cilium p.Y618*(1)|p.Y1002*(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TTGTGAGCTACTCAAGAAGAA 0.428 3 110 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256543 69256543 + Missense_Mutation SNP T T C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr14:69256543T>C ENST00000439696.2 - 2 1025 c.724A>G c.(724-726)Acc>Gcc p.T242A ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 242 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T242A(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGGGCAGGGTAGGTGAGCCC 0.677 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 179 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105406624 105406624 + Missense_Mutation SNP C C G TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr14:105406624C>G ENST00000333244.5 - 7 15283 c.15164G>C c.(15163-15165)gGg>gCg p.G5055A AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5055 nucleus p.G25A(1)|p.G5055A(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAAGCTACCCCCTGCTGTGGC 0.547 6 180 --- --- --- --- DET1 55070 broad.mit.edu 37 15 89074369 89074369 + Missense_Mutation SNP C C G TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr15:89074369C>G ENST00000564406.1 - 3 761 c.601G>C c.(601-603)Gac>Cac p.D201H DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.D190H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 190 nucleus p.D201H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) AGGGAATAGTCTTCTAGAGGG 0.522 23 46 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9858281 9858281 + Missense_Mutation SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr16:9858281C>A ENST00000396573.2 - 14 3429 c.3120G>T c.(3118-3120)gaG>gaT p.E1040D GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1040 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1040D(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGTCCTATTCTCTGCTGTTG 0.532 100 232 --- --- --- --- ZNF276 92822 broad.mit.edu 37 16 89804607 89804607 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr16:89804607C>T ENST00000289816.5 + 11 1885 c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000568064.1_3'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P525S(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GCCACCGAGCCCCTCTGTGAC 0.647 3 8 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15976858 15976858 + Silent SNP A A C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr17:15976858A>C ENST00000268712.3 - 28 3953 c.3696T>G c.(3694-3696)acT>acG p.T1232T NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1232 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.T1232T(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TTGGACTCCTAGTCCCTTCTC 0.393 10 131 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18052094 18052094 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr17:18052094C>T ENST00000205890.5 + 33 7122 c.6784C>T c.(6784-6786)Cgc>Tgc p.R2262C NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2262 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.R2262C(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGATGGCTGGCGCGGCTGGAC 0.602 4 3 --- --- --- --- KRT25 147183 broad.mit.edu 37 17 38906791 38906791 + Missense_Mutation SNP G G A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr17:38906791G>A ENST00000312150.4 - 6 1076 c.1016C>T c.(1015-1017)gCg>gTg p.A339V NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 339 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity p.A339V(1) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CTGGATCTGCGCCAGCTGCGC 0.562 7 349 --- --- --- --- RABAC1 10567 broad.mit.edu 37 19 42463023 42463023 + Missense_Mutation SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr19:42463023C>A ENST00000222008.6 - 2 231 c.134G>T c.(133-135)tGg>tTg p.W45L RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L|RABAC1_ENST00000601078.1_5'UTR NM_006423.2 NP_006414.2 Q9UI14 PRAF1_HUMAN Rab acceptor 1 (prenylated) 45 Required for interaction with prenylated RAB3A and VAMP2 (By similarity). cell junction|Golgi apparatus|integral to membrane|synaptic vesicle identical protein binding p.W45L(1) central_nervous_system(1)|kidney(1)|prostate(1) 3 GAAGGTGCTCCAGGGCCGGAT 0.692 2 3 --- --- --- --- KLK3 354 broad.mit.edu 37 19 51361384 51361384 + Missense_Mutation SNP T T G TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr19:51361384T>G ENST00000360617.3 + 3 306 c.306T>G c.(304-306)gaT>gaG p.D102E KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E P07288 KLK3_HUMAN kallikrein-related peptidase 3 102 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.D102E(2) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CGCTCTACGATATGAGCCTCC 0.577 27 33 --- --- --- --- SFI1 9814 broad.mit.edu 37 22 31971261 31971261 + Missense_Mutation SNP T T C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr22:31971261T>C ENST00000432498.1 + 10 1360 c.967T>C c.(967-969)Ttc>Ctc p.F323L SFI1_ENST00000400288.2_Missense_Mutation_p.F323L|SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 323 G2/M transition of mitotic cell cycle centriole|cytosol p.F323L(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CCAGATATACTTCTGTGACTG 0.547 3 94 --- --- --- --- TXN2 25828 broad.mit.edu 37 22 36876770 36876770 + Missense_Mutation SNP G G A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr22:36876770G>A ENST00000216185.2 - 2 581 c.115C>T c.(115-117)Cct>Tct p.P39S TXN2_ENST00000403313.1_Missense_Mutation_p.P39S|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR Q99757 THIOM_HUMAN thioredoxin 2 39 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity p.P39S(1) breast(1)|lung(1)|prostate(1) 3 AGGCCACCAGGACTGCATTGT 0.552 35 86 --- --- --- --- CDPF1 150383 broad.mit.edu 37 22 46643050 46643050 + Missense_Mutation SNP C C T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chr22:46643050C>T ENST00000314567.3 - 3 605 c.182G>A c.(181-183)gGc>gAc p.G61D CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron NM_207327.4 NP_997210.3 cysteine-rich, DPF motif domain containing 1 p.G61D(1) GCAGCACGAGCCGAGGACCAG 0.597 3 24 --- --- --- --- TEX11 56159 broad.mit.edu 37 X 69844762 69844762 + Missense_Mutation SNP T T C TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chrX:69844762T>C ENST00000395889.2 - 20 1821 c.1666A>G c.(1666-1668)Att>Gtt p.I556V TEX11_ENST00000374320.2_Missense_Mutation_p.I231V|TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 556 protein binding p.I541V(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCTGCCACAATTTGTTGTCCA 0.318 4 39 --- --- --- --- SMARCA1 6594 broad.mit.edu 37 X 128599698 128599698 + Nonsense_Mutation SNP G G T TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2aa9195-5cd4-4032-941e-90a1f724382c 5b3c1e73-475c-4b3b-a49a-0f11810c5223 g.chrX:128599698G>T ENST00000371122.4 - 23 2958 c.2829C>A c.(2827-2829)taC>taA p.Y943* SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 943 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.Y943*(2) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ATGGAGCCTTGTATCTTGCAA 0.328 69 20 --- --- --- ---