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 SHROOM2 357 broad.mit.edu 37 X 9900279 9900279 + Missense_Mutation SNP G G C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:9900279G>C ENST00000380913.3 + 6 3046 c.2956G>C c.(2956-2958)Gca>Cca p.A986P SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 986 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GAGTCAGAAGGCACCGAACCC 0.587000 8 168 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38923283 38923283 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr5:38923283C>T ENST00000274276.3 + 13 2199 c.1797C>T c.(1795-1797)ttC>ttT p.F599F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 599 Fibronectin type-III 3. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GATATGACTTCAGAATTTATG 0.328000 22 42 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116199848 116199848 + Splice_Site SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr10:116199848T>C ENST00000369252.4 - 20 2181 c.1879_splice c.e20-1 p.D627_splice ABLIM1_ENST00000369253.2_Splice_Site_p.D310_splice|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000277895.5_Splice_Site_p.D687_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.D364_splice NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 687 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TACCTGGTAATCTGAAAAGGA 0.403000 9 13 0 0 1 0 0 UGT1A3 0 broad.mit.edu 37 2 234638340 234638340 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:234638340C>T ENST00000482026.1 + 1 587 c.568C>T c.(568-570)Cct>Tct p.P190S UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) GTGTCCAAACCCTTCCTCCTA 0.453000 5 246 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628296 29628296 + Nonsense_Mutation SNP A A T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr20:29628296A>T ENST00000278882.3 + 6 678 c.298A>T c.(298-300)Aaa>Taa p.K100* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CATAGAAGCAAAAAGTAAAAC 0.363000 4 76 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31215747 31215747 + Missense_Mutation SNP G G A rs143970227 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:31215747G>A ENST00000349752.5 - 2 895 c.256C>T c.(256-258)Cgg>Tgg p.R86W GALNT14_ENST00000406653.1_Missense_Mutation_p.R66W|GALNT14_ENST00000420311.2_Missense_Mutation_p.R51W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R86W|GALNT14_ENST00000324589.5_Intron NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 86 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CTGGAGATCCGCTCACTCTCC 0.557000 13 131 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96781415 96781415 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:96781415C>T ENST00000409345.3 - 1 569 c.474G>A c.(472-474)ccG>ccA p.P158P NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 158 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGCGCCCGCGCGGCTGGGGGC 0.637000 10 52 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48327796 48327796 + Missense_Mutation SNP A A T rs141296827 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr18:48327796A>T ENST00000428869.2 - 7 766 c.508T>A c.(508-510)Ttt>Att p.F170I MRO_ENST00000256425.2_Missense_Mutation_p.F170I|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.F184I|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.F170I Q9BYG7 MSTRO_HUMAN maestro 170 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) CTGGTGAAAAATTTTTTCCAT 0.483000 80 101 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63987951 63987951 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:63987951C>T ENST00000279227.5 + 12 1462 c.1367C>T c.(1366-1368)tCc>tTc p.S456F FERMT3_ENST00000345728.5_Missense_Mutation_p.S452F NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 456 FERM.|PH. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CGCCTGGCCTCCAAAGGCCGC 0.682000 8 27 0 0 1 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560093 36560093 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr20:36560093A>G ENST00000373461.4 + 2 425 c.178A>G c.(178-180)Atg>Gtg p.M60V VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.M60V NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 60 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) GGACGTGGAGATGGCCTGCTC 0.632000 41 210 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280318 152280318 + Silent SNP G G A rs147071702 byFrequency TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:152280318G>A ENST00000368799.1 - 3 7079 c.7044C>T c.(7042-7044)caC>caT p.H2348H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2348 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGCTTGTCCGTGCCCAATGC 0.552000 Ichthyosis 6 636 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3339765 3339765 + Missense_Mutation SNP G G A rs149007034 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr16:3339765G>A ENST00000219069.5 + 6 2135 c.1259G>A c.(1258-1260)cGt>cAt p.R420H ZNF263_ENST00000538765.1_Missense_Mutation_p.R68H|ZNF263_ENST00000574253.1_3'UTR NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 420 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 GGGAACCCACGTTTCCTGTCA 0.493000 53 93 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47800597 47800597 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr18:47800597G>A ENST00000591416.1 - 11 1536 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C MBD1_ENST00000398488.1_Intron|MBD1_ENST00000588937.1_Missense_Mutation_p.R346C|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.R369C|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000436910.1_Missense_Mutation_p.R346C|MBD1_ENST00000585672.1_Missense_Mutation_p.R319C|MBD1_ENST00000457839.2_Missense_Mutation_p.R394C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.R420C|MBD1_ENST00000590208.1_Missense_Mutation_p.R369C|MBD1_ENST00000591535.1_Missense_Mutation_p.R346C|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000353909.3_Missense_Mutation_p.R320C|MBD1_ENST00000339998.6_Missense_Mutation_p.R369C|MBD1_ENST00000585595.1_Missense_Mutation_p.R394C|MBD1_ENST00000269471.5_Missense_Mutation_p.R346C|MBD1_ENST00000269468.5_Missense_Mutation_p.R369C Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 369 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CACTTCTGGCGCTTCTGGTTG 0.662000 25 175 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215972309 215972309 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:215972309C>A ENST00000366943.2 - 50 10284 c.9898G>T c.(9898-9900)Gtg>Ttg p.V3300L USH2A_ENST00000307340.3_Missense_Mutation_p.V3300L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3300 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCGTTGCTCACAATCTGTCTG 0.527000 HNSCC(13;0.011) 5 115 0.000602214 0.000634394 1 1 0 FLG 2312 broad.mit.edu 37 1 152285513 152285513 + Missense_Mutation SNP G G C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:152285513G>C ENST00000368799.1 - 3 1884 c.1849C>G c.(1849-1851)Cag>Gag p.Q617E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 617 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGATCCCTGGTTCCTACTT 0.552000 Ichthyosis 13 492 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12763077 12763077 + Missense_Mutation SNP C C T rs148661421 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:12763077C>T ENST00000456935.2 - 16 1976 c.1936G>A c.(1936-1938)Gcc>Acc p.A646T MAN2B1_ENST00000221363.4_Missense_Mutation_p.A645T NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 646 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTATACTGGCGTTGTACCTG 0.592000 7 105 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34971620 34971620 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:34971620C>T ENST00000242315.3 + 2 407 c.325C>T c.(325-327)Cgg>Tgg p.R109W KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R109W NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 109 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CCGCCCCACCCGGAAGCTGGA 0.602000 5 354 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480218 73480218 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr8:73480218C>T ENST00000523207.1 + 2 837 c.249C>T c.(247-249)aaC>aaT p.N83N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 83 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATAATCTGAACGAGAACGAGT 0.517000 33 66 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66974478 66974478 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr16:66974478G>A ENST00000317091.4 + 5 1872 c.888G>A c.(886-888)acG>acA p.T296T CES2_ENST00000417689.1_Silent_p.T296T NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 232 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CGGGTGGCACGAGTGTGTCTT 0.597000 54 78 0 0 1 0 0 RNASE8 122665 broad.mit.edu 37 14 21526423 21526423 + Missense_Mutation SNP C C G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:21526423C>G ENST00000308227.2 + 1 443 c.372C>G c.(370-372)caC>caG p.H124Q NDRG2_ENST00000403829.3_Intron NM_138331.1 NP_612204.1 Q8TDE3 RNAS8_HUMAN ribonuclease, RNase A family, 8 124 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0188) AAGAGAAGCACCTGAACACAC 0.537000 26 166 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227450 30227450 + RNA SNP C C G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr6:30227450C>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTTGGGGGCCCTGGCCCTGAC 0.716000 3 41 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77672047 77672047 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:77672047G>A ENST00000534064.1 - 5 643 c.609C>T c.(607-609)taC>taT p.Y203Y INTS4_ENST00000529807.1_Silent_p.Y203Y NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 203 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) GGTCACTGAAGTAATCCCCTA 0.428000 64 128 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677937 100677937 + Silent SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr7:100677937T>C ENST00000306151.4 + 3 3304 c.3240T>C c.(3238-3240)agT>agC p.S1080S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1080 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTCAAGCCAGTTCATCTTCTA 0.512000 7 1238 0 0 1 0 0 CHAC1 79094 broad.mit.edu 37 15 41247728 41247728 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:41247728C>T ENST00000446533.3 + 3 860 c.551C>T c.(550-552)gCc>gTc p.A184V CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Intron NM_001142776.1|NM_024111.3 NP_001136248.1|NP_077016.2 Q9BUX1 CHAC1_HUMAN ChaC, cation transport regulator homolog 1 (E. coli) 184 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding endometrium(1)|large_intestine(1)|skin(1) 3 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) AAGGCATTGGCCTATGTGGCC 0.597000 22 246 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681131 161681131 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:161681131C>T ENST00000540926.1 + 4 677 c.384C>T c.(382-384)ccC>ccT p.P128P FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367959.2_Silent_p.P145P|FCRLA_ENST00000349527.4_Silent_p.P122P|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Silent_p.P128P|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000236938.6_Silent_p.P139P|FCRLA_ENST00000309691.6_Intron Q7L513 FCRLA_HUMAN Fc receptor-like A 122 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TGGGTCCCCCCGGGCCTAACA 0.602000 31 72 0 0 1 0 0 UGT1A3 0 broad.mit.edu 37 2 234638622 234638622 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:234638622A>G ENST00000482026.1 + 1 869 c.850A>G c.(850-852)Agg>Ggg p.R284G UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTGTGCCAACAGGAAGCCACT 0.438000 5 160 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593161 11593161 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:11593161G>A ENST00000262442.3 + 20 4090 c.4022G>A c.(4021-4023)cGg>cAg p.R1341Q DNAH9_ENST00000454412.2_Missense_Mutation_p.R1341Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1341 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGTTTGCCCGGCATATCCGA 0.562000 13 19 0 0 1 0 0 FBRS 64319 broad.mit.edu 37 16 30680745 30680745 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr16:30680745G>A ENST00000356166.6 + 18 3810 c.2722G>A c.(2722-2724)Ggg>Agg p.G908R FBRS_ENST00000287468.5_Missense_Mutation_p.G388R|FBRS_ENST00000395073.2_Missense_Mutation_p.G300R|FBRS_ENST00000568722.1_Missense_Mutation_p.G300R Q9HAH7 FBRS_HUMAN fibrosin 388 ovary(1) 1 Colorectal(24;0.103) AACTGGACCCGGGGCCGTGGC 0.687000 78 98 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487943 63487943 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:63487943G>A ENST00000377819.5 + 3 2123 c.1969G>A c.(1969-1971)Gcc>Acc p.A657T RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.A545T|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.A638T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 657 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CCTGATAGCAGCCTTTACAGA 0.358000 5 76 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33533879 33533879 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr20:33533879G>A ENST00000216951.2 - 3 250 c.152C>T c.(151-153)aCg>aTg p.T51M GSS_ENST00000451957.2_Missense_Mutation_p.T51M|GSS_ENST00000541098.1_De_novo_Start_InFrame NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 51 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GGGGAAGAGCGTGAATGGGGC 0.567000 4 169 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12195065 12195065 + Missense_Mutation SNP G G A rs144326666 byFrequency TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr3:12195065G>A ENST00000287814.4 - 5 1135 c.625C>T c.(625-627)Cgg>Tgg p.R209W SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 209 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 AGGTGGCCCCGGTACCAGCTG 0.532000 5 181 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124385314 124385314 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr3:124385314G>A ENST00000360013.3 + 46 6488 c.6361G>A c.(6361-6363)Ggg>Agg p.G2121R KALRN_ENST00000428018.2_Missense_Mutation_p.G392R|KALRN_ENST00000393496.1_Missense_Mutation_p.G462R|KALRN_ENST00000291478.4_Missense_Mutation_p.G424R|KALRN_ENST00000459915.1_Missense_Mutation_p.G213R NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2120 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GACTGCTCAGGGGAAGCTGCT 0.572000 4 50 0 0 1 0 0 ABCB10 23456 broad.mit.edu 37 1 229666080 229666080 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:229666080C>T ENST00000344517.4 - 8 1553 c.1511G>A c.(1510-1512)cGc>cAc p.R504H NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 504 ABC transporter. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CACCTCTGGGCGAGCTGGATA 0.458000 51 174 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133470894 133470894 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:133470894C>A ENST00000319725.9 + 2 184 c.109C>A c.(109-111)Cct>Act p.P37T NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 37 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TGATTCAATTCCTCACTTGAA 0.413000 7 75 0.00198382 0.00207399 1 1 0 B3GNT4 79369 broad.mit.edu 37 12 122691360 122691360 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr12:122691360G>A ENST00000535274.1 + 1 2214 c.487G>A c.(487-489)Gag>Aag p.E163K B3GNT4_ENST00000546192.1_Missense_Mutation_p.E163K|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.E188K Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 188 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) GGACTTCACTGAGGACTTCTT 0.597000 31 58 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21971990 21971990 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:21971990G>A ENST00000298717.4 - 2 286 c.135C>T c.(133-135)acC>acT p.T45T METTL3_ENST00000538267.1_Silent_p.T45T NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 45 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CACTACGGAAGGTTGGAGACA 0.473000 12 101 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678887 100678887 + Missense_Mutation SNP C C T rs141608296 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr7:100678887C>T ENST00000306151.4 + 3 4254 c.4190C>T c.(4189-4191)cCg>cTg p.P1397L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1397 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGAACCACTCCGTTAACAAGT 0.507000 48 495 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065099 23065099 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr20:23065099G>A ENST00000246006.4 - 1 1878 c.1731C>T c.(1729-1731)gaC>gaT p.D577D NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 577 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCTTTTGCCCGTCAGTGCCAT 0.617000 45 104 0 0 1 0 0 UQCR11 10975 broad.mit.edu 37 19 1605408 1605408 + Translation_Start_Site SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:1605408T>C ENST00000262946.4 - 1 75 c.1A>G c.(1-3)Atg>Gtg p.M1V UQCR11_ENST00000591899.3_Start_Codon_SNP_p.M1V|UQCR11_ENST00000585671.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000589880.1_Start_Codon_SNP_p.M1V NM_006830.3 NP_006821.1 O14957 QCR10_HUMAN ubiquinol-cytochrome c reductase, complex III subunit XI 1 respiratory electron transport chain integral to membrane|mitochondrial inner membrane|respiratory chain electron carrier activity breast(1)|lung(2)|ovary(1)|prostate(1) 5 CGGGTCACCATCGCGGCGGAG 0.766000 4 12 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 150 0 0 1 0 0 HOXA11 3207 broad.mit.edu 37 7 27224590 27224590 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr7:27224590G>A ENST00000006015.3 - 1 245 c.174C>T c.(172-174)cgC>cgT p.R58R HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 58 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 AGGTCACTTCGCGCACGGGTT 0.612000 T NUP98 CML OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 141 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 4 97 0.00909568 0.00936719 1 1 0 PLD1 5337 broad.mit.edu 37 3 171455769 171455769 + Missense_Mutation SNP T T A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr3:171455769T>A ENST00000356327.5 - 2 143 c.73A>T c.(73-75)Ata>Tta p.I25L PLD1_ENST00000340989.4_Missense_Mutation_p.I25L|PLD1_ENST00000351298.4_Missense_Mutation_p.I25L|PLD1_ENST00000342215.6_Missense_Mutation_p.I25L NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 25 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGATTTTCTATGATATTACTC 0.458000 23 66 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515215 56515215 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:56515215C>A ENST00000390649.3 + 2 196 c.196C>A c.(196-198)Caa>Aaa p.Q66K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 66 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTACGGGCTGCAATGGTGTCT 0.418000 9 56 0.0692343 0.0702525 1 1 0 THEMIS2 9473 broad.mit.edu 37 1 28208811 28208811 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:28208811C>T ENST00000373921.3 + 4 980 c.976C>T c.(976-978)Cgg>Tgg p.R326W THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 CAAGCTGCGGCGGCGGCCAAG 0.677000 6 18 0 0 1 0 0 BSG 682 broad.mit.edu 37 19 579583 579583 + Missense_Mutation SNP A A T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:579583A>T ENST00000333511.3 + 3 569 c.499A>T c.(499-501)Aca>Tca p.T167S BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.T51S|BSG_ENST00000574970.1_3'UTR NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin 167 Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACAGAGGTCACAGGGCACCG 0.632000 8 85 0 0 1 0 0 CA12 771 broad.mit.edu 37 15 63637713 63637713 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:63637713G>A ENST00000178638.3 - 4 832 c.392C>T c.(391-393)tCt>tTt p.S131F CA12_ENST00000422263.2_Missense_Mutation_p.S71F|CA12_ENST00000344366.3_Missense_Mutation_p.S131F NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 131 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) GGTGTGCTCAGAGCCGTGCGG 0.647000 19 42 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23451447 23451447 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:23451447C>T ENST00000262713.2 - 1 404 c.29G>A c.(28-30)cGc>cAc p.R10H RP11-298I3.5_ENST00000555074.1_Silent_p.S7S|AJUBA_ENST00000361265.4_Missense_Mutation_p.R10H NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 10 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CTCCAGCAGGCGACTGGCTTT 0.697000 7 83 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330971 51330971 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:51330971G>A ENST00000326856.4 - 3 270 c.141C>T c.(139-141)ggC>ggT p.G47G KLK15_ENST00000301421.2_Silent_p.G48G|KLK15_ENST00000598239.1_Silent_p.G48G|KLK15_ENST00000596931.1_Silent_p.G47G|KLK15_ENST00000416184.1_Silent_p.G48G NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 48 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TGAGGGAAGCGCCACAGTTAA 0.632000 3 34 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063381 48063381 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:48063381A>G ENST00000316364.5 + 19 3060 c.2621A>G c.(2620-2622)gAt>gGt p.D874G SEMA6D_ENST00000358066.4_Missense_Mutation_p.D812G|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D855G|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D831G|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D874G|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D799G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D818G|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D812G NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 874 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) CGTTCTGTTGATTCCAGAAAT 0.438000 9 122 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160062140 160062140 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:160062140G>A ENST00000368086.1 - 5 1874 c.1658C>T c.(1657-1659)gCc>gTc p.A553V IGSF8_ENST00000314485.7_Missense_Mutation_p.A553V Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 553 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.A553V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCTGTAGTCGGCATGCTGCAC 0.647000 4 165 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155989 22155989 + Missense_Mutation SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:22155989T>C ENST00000397126.4 - 4 1995 c.1847A>G c.(1846-1848)aAa>aGa p.K616R 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) ACTAAAGGTTTTGCCACATTC 0.368000 6 60 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 42 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531834 42531834 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr18:42531834C>T ENST00000282030.5 + 4 2825 c.2529C>T c.(2527-2529)tgC>tgT p.C843C NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 843 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACACCTGTGCGAGATTGGCT 0.552000 Schinzel-Giedion syndrome 6 68 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139404348 139404348 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:139404348C>A ENST00000277541.6 - 18 2881 c.2806G>T c.(2806-2808)Ggc>Tgc p.G936C NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 936 EGF-like 24. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCCCGGAAGCCGGGCAGGCAG 0.647000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 70 93 5.96624e-29 6.63985e-29 1 1 0 FUBP1 8880 broad.mit.edu 37 1 78432436 78432436 + Splice_Site SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:78432436C>T ENST00000370767.1 - 7 503 c.e7-1 FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CCACCACTGTCTACAATTTAA 0.318000 """F, N""" oligodendroglioma 9 14 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61949673 61949673 + Missense_Mutation SNP T T A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:61949673T>A ENST00000392886.2 - 5 618 c.467A>T c.(466-468)gAc>gTc p.D156V CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.D99V|CSH2_ENST00000345366.7_Missense_Mutation_p.D61V NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 156 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 GCGGCTGCCGTCTTCCAGCCT 0.557000 17 146 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41075260 41075260 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:41075260G>A ENST00000324545.7 + 35 6073 c.5440G>A c.(5440-5442)Gat>Aat p.D1814N USP9X_ENST00000378308.2_Missense_Mutation_p.D1814N NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1814 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CAAGTTCAATGATTATTTTGA 0.408000 16 91 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106224616 106224616 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:106224616C>A ENST00000355610.4 - 6 1040 c.766G>T c.(766-768)Ggt>Tgt p.G256C MORC4_ENST00000535534.1_Missense_Mutation_p.G4C|MORC4_ENST00000255495.7_Missense_Mutation_p.G256C NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 256 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GAGGTAACACCGCCAGTCATT 0.353000 12 117 1.08611e-07 1.18018e-07 1 1 0 SLC5A7 60482 broad.mit.edu 37 2 108604713 108604713 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:108604713C>T ENST00000264047.2 + 2 378 c.102C>T c.(100-102)agC>agT p.S34S SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Silent_p.S34S NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 34 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ACAGTGGCAGCGCAGAAGAGC 0.502000 30 75 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78513090 78513090 + Silent SNP T T G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr12:78513090T>G ENST00000397909.2 + 15 3287 c.3114T>G c.(3112-3114)ccT>ccG p.P1038P NAV3_ENST00000266692.7_Silent_p.P1038P|NAV3_ENST00000228327.6_Silent_p.P1038P|NAV3_ENST00000536525.2_Silent_p.P1038P Q8IVL0 NAV3_HUMAN neuron navigator 3 1038 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAAGATCTCCTTCAGATGCAG 0.438000 HNSCC(70;0.22) 4 164 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25932758 25932758 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:25932758A>G ENST00000398988.3 + 16 2013 c.1568A>G c.(1567-1569)aAc>aGc p.N523S KSR1_ENST00000268763.6_Missense_Mutation_p.N523S|KSR1_ENST00000509603.2_Missense_Mutation_p.N638S|KSR1_ENST00000319524.6_Missense_Mutation_p.N660S NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 658 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GAGGTGATGAACTACCGGCAG 0.617000 4 39 0 0 1 0 0 REPS2 9185 broad.mit.edu 37 X 17065569 17065569 + Nonsense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:17065569C>T ENST00000357277.3 + 6 1042 c.871C>T c.(871-873)Cga>Tga p.R291* REPS2_ENST00000303843.7_Nonsense_Mutation_p.R290*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.R151* NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 291 EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) CAATCAGTTCCGATCCCTTCA 0.488000 72 137 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68873234 68873234 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:68873234G>A ENST00000303786.3 + 2 701 c.281G>A c.(280-282)cGc>cAc p.R94H PROKR1_ENST00000394342.2_Missense_Mutation_p.R94H Q8TCW9 PKR1_HUMAN prokineticin receptor 1 94 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AAGAAACTGCGCAACCTCACC 0.557000 18 212 0 0 1 0 0 AC007040.8 0 broad.mit.edu 37 2 71256288 71256288 + RNA SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:71256288C>T ENST00000434990.1 - 0 61 ACCTCGGCCACGGTTCCCAAG 0.547000 5 19 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152226308 152226308 + Missense_Mutation SNP G G T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:152226308G>T ENST00000447306.1 + 2 1232 c.896G>T c.(895-897)aGt>aTt p.S299I PNMA3_ENST00000370265.4_Missense_Mutation_p.S299I|PNMA3_ENST00000370264.4_Missense_Mutation_p.S299I NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 299 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) cgagtcttaagtggggccacc 0.502000 12 77 2.27111e-07 2.42956e-07 1 1 0 TRIM71 131405 broad.mit.edu 37 3 32932670 32932670 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr3:32932670C>T ENST00000383763.4 + 4 2037 c.1974C>T c.(1972-1974)ggC>ggT p.G658G NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 658 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GACCAGCCGGCGTGGCCTGTG 0.622000 26 62 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5437298 5437298 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:5437298C>T ENST00000345221.3 - 9 3525 c.2971G>A c.(2971-2973)Gtg>Atg p.V991M NLRP1_ENST00000354411.3_Missense_Mutation_p.V961M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V991M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V961M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V991M|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.V991M NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 991 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GGGGTCATCACACTTGGTTTC 0.498000 14 303 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17394316 17394316 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:17394316G>A ENST00000380060.3 + 1 774 c.436G>A c.(436-438)Gct>Act p.A146T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 146 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GGCCCGGCACGCTTGCAGCCT 0.726000 10 13 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174777827 174777827 + Missense_Mutation SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:174777827T>C ENST00000310015.6 - 6 2530 c.2000A>G c.(1999-2001)gAa>gGa p.E667G SP3_ENST00000418194.2_Missense_Mutation_p.E599G|SP3_ENST00000455789.2_Missense_Mutation_p.E614G NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 667 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CCTCTGTAATTCATCACTTCG 0.378000 11 44 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227449 30227449 + RNA SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr6:30227449C>A ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA TCTTGGGGGCCCTGGCCCTGA 0.716000 3 41 0.150653 0.150653 1 1 0 MYH4 4622 broad.mit.edu 37 17 10368903 10368903 + Missense_Mutation SNP G G T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:10368903G>T ENST00000255381.2 - 5 471 c.361C>A c.(361-363)Ctc>Atc p.L121I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 121 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ACACAGAAGAGGCCCGAGTAG 0.552000 17 138 1.99824e-07 2.15435e-07 1 1 0 IRS4 8471 broad.mit.edu 37 X 107978515 107978515 + Missense_Mutation SNP G G T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:107978515G>T ENST00000372129.2 - 1 1136 c.1060C>A c.(1060-1062)Ctg>Atg p.L354M NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 354 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GCGGACAGCAGGGTTAACAGG 0.612000 5 415 0.014758 0.0150859 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154395932 154395932 + Missense_Mutation SNP A A T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr5:154395932A>T ENST00000435029.4 + 1 2673 c.2513A>T c.(2512-2514)cAg>cTg p.Q838L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 838 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCTGACCTACAGCAGAAGCTG 0.433000 4 59 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3898784 3898784 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:3898784C>T ENST00000324333.10 - 6 1763 c.1570G>A c.(1570-1572)Gtg>Atg p.V524M GLIS3-AS1_ENST00000451340.2_RNA|GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.V679M NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 524 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AGGGACTGCACGGTGAGGCAA 0.592000 10 63 0 0 1 0 0 RPA1 6117 broad.mit.edu 37 17 1798390 1798390 + Splice_Site SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:1798390G>A ENST00000254719.5 + 16 1856 c.e16+1 NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 GACCTACAACGTAAGTAAGGG 0.493000 Nucleotide excision repair (NER) 40 64 0 0 1 0 0 MRPL50 54534 broad.mit.edu 37 9 104160861 104160861 + Missense_Mutation SNP G G C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:104160861G>C ENST00000374865.4 - 1 35 c.14C>G c.(13-15)tCt>tGt p.S5C MRPL50_ENST00000539624.1_Missense_Mutation_p.S5C NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 5 mitochondrion|ribosome large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) GCCCGACACAGATCGCGCCGC 0.547000 14 97 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101598285 101598285 + Missense_Mutation SNP T T A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:101598285T>A ENST00000284395.5 + 30 5009 c.4609T>A c.(4609-4611)Ttc>Atc p.F1537I RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.F1540I Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1540 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCAGACAGCCTTCTTCTCATC 0.577000 4 87 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67266176 67266176 + Missense_Mutation SNP C C T rs151117956 by1000genomes TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:67266176C>T ENST00000356404.3 - 10 1600 c.1375G>A c.(1375-1377)Gcc>Acc p.A459T PITPNM1_ENST00000534749.1_Missense_Mutation_p.A459T|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A459T NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 459 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GCCTCGAAGGCGGAGCTCAGC 0.662000 56 92 0 0 1 0 0 GPM6B 2824 broad.mit.edu 37 X 13795537 13795537 + Silent SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:13795537A>G ENST00000454189.2 - 5 655 c.528T>C c.(526-528)atT>atC p.I176I GPM6B_ENST00000398361.3_Silent_p.I109I|GPM6B_ENST00000355135.2_Silent_p.I235I|GPM6B_ENST00000316715.4_Silent_p.I235I|GPM6B_ENST00000356942.5_Silent_p.I195I|GPM6B_ENST00000493677.1_Silent_p.I209I NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 195 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 CATTCCAAGGAATGATACCTG 0.438000 3 37 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33444650 33444650 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:33444650C>T ENST00000305768.4 - 4 451 c.363G>A c.(361-363)ctG>ctA p.L121L CEP89_ENST00000590597.1_Silent_p.L121L NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 121 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CCCCATAGTCCAGTGTTTCAA 0.478000 6 62 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150160 34150160 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:34150160G>A ENST00000346193.3 - 1 287 c.236C>T c.(235-237)cCc>cTc p.P79L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 79 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGATATTTTGGGGAGTAAAAA 0.532000 45 100 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631823 32631823 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:32631823C>T ENST00000242310.4 - 1 3844 c.3755G>A c.(3754-3756)cGg>cAg p.R1252Q NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1252 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCGCTTAAGCCGCCTCAGTTG 0.448000 15 74 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124740574 124740574 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:124740574C>T ENST00000397801.1 + 6 1175 c.983C>T c.(982-984)gCg>gTg p.A328V ROBO3_ENST00000538940.1_Missense_Mutation_p.A306V NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 328 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) ACCTGTGTGGCGGAGAACAGT 0.602000 3 35 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 26 0 0 1 0 0 KLHL20 27252 broad.mit.edu 37 1 173726268 173726268 + Missense_Mutation SNP A A T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:173726268A>T ENST00000209884.4 + 7 1257 c.1121A>T c.(1120-1122)gAt>gTt p.D374V KLHL20_ENST00000546011.1_Missense_Mutation_p.D185V NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 374 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GGAGGCCATGATGGATCCTCT 0.383000 4 121 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:102304883C>G ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 4 27 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674159 3674159 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr20:3674159C>A ENST00000344754.4 - 13 3442 c.3443G>T c.(3442-3444)cGc>cTc p.R1148L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1148 Ig-like C2-type 11. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CACACCGCAGCGGTAGGAGGT 0.657000 3 40 0.115264 0.116105 1 1 0 TRMT5 57570 broad.mit.edu 37 14 61446302 61446302 + Missense_Mutation SNP A A C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:61446302A>C ENST00000261249.6 - 2 698 c.314T>G c.(313-315)aTa>aGa p.I105R RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 105 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TTTACTGACTATTTCTTTCCT 0.408000 19 136 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G A rs143982735 by1000genomes TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:102304884G>A ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 4 25 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120594273 120594273 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr12:120594273C>T ENST00000300648.6 - 28 3316 c.3304G>A c.(3304-3306)Gtg>Atg p.V1102M NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1102 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCCGGAGCACGGTTTCCCGC 0.577000 13 60 0 0 1 0 0 RABL3 285282 broad.mit.edu 37 3 120417392 120417392 + Missense_Mutation SNP T T A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr3:120417392T>A ENST00000273375.3 - 5 441 c.412A>T c.(412-414)Aac>Tac p.N138Y RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.N138Y NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 138 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) GGTATTTGGTTATCAGCAAAC 0.363000 73 157 0 0 1 0 0 GJB6 0 broad.mit.edu 37 13 20797370 20797370 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr13:20797370C>T ENST00000356192.6 - 5 870 c.250G>A c.(250-252)Gtc>Atc p.V84I GJB6_ENST00000400066.3_Missense_Mutation_p.V84I|GJB6_ENST00000241124.6_Missense_Mutation_p.V84I|GJB6_ENST00000400065.3_Missense_Mutation_p.V84I NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 84 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) GGGGTGGAGACGAAGATCAGC 0.552000 8 43 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337523 104337523 + Nonsense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr8:104337523C>T ENST00000358755.4 + 4 1506 c.1189C>T c.(1189-1191)Cga>Tga p.R397* FZD6_ENST00000522566.1_Nonsense_Mutation_p.R397*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.R365*|FZD6_ENST00000540287.1_Nonsense_Mutation_p.R92* NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 397 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) AAATCATGTTCGACAAGTCAT 0.418000 5 202 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105187664 105187664 + Nonsense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr7:105187664G>A ENST00000257700.2 + 6 954 c.723G>A c.(721-723)tgG>tgA p.W241* NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 241 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGCTTCATTGGCCATTCATCG 0.433000 5 151 0 0 1 0 0 CCNB1IP1 57820 broad.mit.edu 37 14 20779890 20779890 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:20779890A>G ENST00000398169.3 - 7 1269 c.653T>C c.(652-654)tTg>tCg p.L218S CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.L218S Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 218 chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) TGTATTATCCAAAGGAAACTT 0.388000 T HMGA2 leiomyoma 37 42 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630950 74630950 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:74630950G>A ENST00000358632.4 - 8 1617 c.922C>T c.(922-924)Cgg>Tgg p.R308W CYP11A1_ENST00000268053.6_Missense_Mutation_p.R466W|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R308W NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 466 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TCAGCGATCCGCCGTCCCAGA 0.557000 4 156 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957836 49957836 + Missense_Mutation SNP G G T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chrX:49957836G>T ENST00000376056.2 - 5 1651 c.1501C>A c.(1501-1503)Caa>Aaa p.Q501K AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 510 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CCTTGCTTTTGGTTCCAGATG 0.453000 7 147 0.00307968 0.00319546 1 1 0 PRPF8 10594 broad.mit.edu 37 17 1578465 1578465 + Missense_Mutation SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:1578465T>C ENST00000572621.1 - 19 3306 c.3041A>G c.(3040-3042)aAc>aGc p.N1014S PRPF8_ENST00000304992.6_Missense_Mutation_p.N1014S Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1014 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GATGACGACGTTGTTCTTGGC 0.507000 17 39 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47571515 47571515 + Missense_Mutation SNP C C T rs142358848 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr21:47571515C>T ENST00000397748.1 - 5 636 c.593G>A c.(592-594)cGc>cAc p.R198H FTCD_ENST00000397743.1_Missense_Mutation_p.R198H|FTCD_ENST00000355384.2_Missense_Mutation_p.R198H|FTCD_ENST00000397746.3_Missense_Mutation_p.R198H|FTCD_ENST00000359679.2_Missense_Mutation_p.R198H|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Missense_Mutation_p.R198H O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 198 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GAGCGCGATGCGGTGGGCTTG 0.642000 4 129 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10529180 10529180 + Silent SNP G G A rs142352495 by1000genomes TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr6:10529180G>A ENST00000379597.3 + 1 592 c.36G>A c.(34-36)gcG>gcA p.A12A GCNT2_ENST00000495262.1_Silent_p.A12A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 12 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TTTTTAGCGCGTCTCTTATCT 0.388000 11 90 0 0 1 0 0 GTPBP8 29083 broad.mit.edu 37 3 112709901 112709901 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr3:112709901G>A ENST00000383677.3 + 1 70 c.55G>A c.(55-57)Gtg>Atg p.V19M GTPBP8_ENST00000383678.2_Missense_Mutation_p.V19M NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 19 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 AATGCCTGCGGTGCTAGAGCG 0.607000 38 37 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35198139 35198139 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:35198139C>T ENST00000263398.6 + 2 519 c.85C>T c.(85-87)Cgc>Tgc p.R29C CD44_ENST00000278386.6_Missense_Mutation_p.R29C|CD44_ENST00000526669.2_Missense_Mutation_p.R29C|CD44_ENST00000526025.1_Missense_Mutation_p.R29C|CD44_ENST00000352818.4_Missense_Mutation_p.R29C|CD44_ENST00000433892.2_Missense_Mutation_p.R29C|CD44_ENST00000449691.2_Missense_Mutation_p.R29C|CD44_ENST00000415148.2_Missense_Mutation_p.R29C|CD44_ENST00000433354.2_Missense_Mutation_p.R29C|CD44_ENST00000360158.4_Missense_Mutation_p.R29C|CD44_ENST00000434472.2_Missense_Mutation_p.R29C|CD44_ENST00000428726.2_Missense_Mutation_p.R29C|CD44_ENST00000437706.2_Missense_Mutation_p.R29C NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 29 cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TATAACCTGCCGCTTTGCAGG 0.433000 19 29 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75441910 75441910 + Splice_Site SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr9:75441910T>C ENST00000297784.5 + 21 2669 c.2129_splice c.e21+1 p.V710_splice TMC1_ENST00000340019.3_Splice_Site_p.V710_splice|TMC1_ENST00000396237.3_Splice_Site_p.V710_splice|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 710 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TTGGTGATGGTGTATGTGCTT 0.473000 35 230 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533908 55533908 + Missense_Mutation SNP C C G rs147116231 byFrequency TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr8:55533908C>G ENST00000220676.1 + 2 530 c.382C>G c.(382-384)Ctc>Gtc p.L128V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 128 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCGGCCCTGGCTCAGCAGCCG 0.697000 6 184 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24791275 24791275 + Silent SNP G G A rs79119787 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:24791275G>A ENST00000310677.4 - 21 2696 c.2583C>T c.(2581-2583)aaC>aaT p.N861N ADCY4_ENST00000554068.2_Silent_p.N861N|ADCY4_ENST00000418030.2_Silent_p.N861N NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 861 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|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GAGTCACCTCGTTGCGCCGGT 0.587000 6 164 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235199 100235199 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr4:100235199C>T ENST00000305046.8 - 6 674 c.607G>A c.(607-609)Ggg>Agg p.G203R ADH1B_ENST00000394887.3_Missense_Mutation_p.G163R P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 203 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AGGCCGACCCCTCCCAGGCCA 0.468000 6 309 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31318363 31318363 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr15:31318363C>T ENST00000542188.1 - 26 3972 c.3659G>A c.(3658-3660)cGc>cAc p.R1220H TRPM1_ENST00000397795.2_Missense_Mutation_p.R1181H|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1203H|RP11-348B17.1_ENST00000561299.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1181 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GACCCGGATGCGCTCGTCGCT 0.632000 7 61 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72613294 72613294 + Silent SNP G G A rs77873791 by1000genomes TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:72613294G>A ENST00000392619.1 - 2 467 c.432C>T c.(430-432)cgC>cgT p.R144R CD300E_ENST00000426295.2_Silent_p.R158R|CD300E_ENST00000328630.3_Silent_p.R117R NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 117 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 CCGAGGGATCGCGTGACCATG 0.537000 5 102 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 31 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160136482 160136482 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:160136482C>T ENST00000368081.4 + 8 1683 c.1212C>T c.(1210-1212)acC>acT p.T404T NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 404 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGATATGACCGTGTATGAGG 0.562000 7 139 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8167703 8167703 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr7:8167703C>T ENST00000402384.3 - 13 1396 c.1130G>A c.(1129-1131)aGt>aAt p.S377N ICA1_ENST00000265577.7_Missense_Mutation_p.S376N|ICA1_ENST00000422063.2_Missense_Mutation_p.S406N|ICA1_ENST00000406470.2_Missense_Mutation_p.S377N|ICA1_ENST00000396675.3_Missense_Mutation_p.S377N|ICA1_ENST00000401396.1_Missense_Mutation_p.S365N Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 377 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) GAAGATCTCACTCAACAGCAG 0.542000 5 221 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 80 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186092329 186092329 + Missense_Mutation SNP C C G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:186092329C>G ENST00000271588.4 + 81 12705 c.12476C>G c.(12475-12477)aCa>aGa p.T4159R HMCN1_ENST00000367492.2_Missense_Mutation_p.T4159R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4159 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCAAGCAGCACAAGCACCAAG 0.493000 7 25 0 0 1 0 0 HLA-F 3134 broad.mit.edu 37 6 29692052 29692052 + Missense_Mutation SNP C C G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr6:29692052C>G ENST00000440587.2 + 3 442 c.83C>G c.(82-84)tCc>tGc p.S28C HLA-F_ENST00000434407.2_Missense_Mutation_p.S146C|HLA-F_ENST00000334668.4_Missense_Mutation_p.S146C|HLA-F_ENST00000259951.7_Missense_Mutation_p.S146C|HLA-F_ENST00000376861.1_Missense_Mutation_p.S146C P30511 HLAF_HUMAN major histocompatibility complex, class I, F 146 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 GATTACATCTCCCTGAACGAG 0.622000 8 178 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140710720 140710720 + Missense_Mutation SNP G G T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr5:140710720G>T ENST00000517417.1 + 1 469 c.469G>T c.(469-471)Ggg>Tgg p.G157W PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G157W NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGCCTTTTGGGCAAGACCT 0.458000 23 134 1.55795e-14 1.70632e-14 1 1 0 TINAG 27283 broad.mit.edu 37 6 54173456 54173456 + Silent SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr6:54173456T>C ENST00000259782.4 + 1 204 c.108T>C c.(106-108)acT>acC p.T36T TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Silent_p.T32T|TINAG_ENST00000370864.3_Silent_p.T18T NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 36 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CTTATTTCACTAGGAATCACA 0.393000 14 107 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6701875 6701875 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr12:6701875G>A ENST00000309577.6 - 18 2924 c.2761C>T c.(2761-2763)Ccc>Tcc p.P921S CHD4_ENST00000544040.1_Missense_Mutation_p.P914S|CHD4_ENST00000544484.1_Missense_Mutation_p.P918S|CHD4_ENST00000357008.2_Missense_Mutation_p.P921S Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 921 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AACCTCTCGGGGGTGAGAAAG 0.433000 9 84 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91503566 91503566 + Splice_Site SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr10:91503566T>C ENST00000416354.1 + 22 4079 c.4005_splice c.e22-1 p.V1336_splice KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Splice_Site_p.V1266_splice|KIF20B_ENST00000394289.2_Splice_Site_p.V1306_splice|KIF20B_ENST00000371728.3_Splice_Site_p.V1306_splice Q96Q89 KI20B_HUMAN kinesin family member 20B 1306 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 ATTTTGTAGGTATCTGTAATG 0.284000 3 38 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824906 124824906 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr12:124824906G>A ENST00000356219.3 - 37 5598 c.5443C>T c.(5443-5445)Cgg>Tgg p.R1815W NCOR2_ENST00000429285.2_Missense_Mutation_p.R1798W|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1808W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1798W|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1369W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1799W NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1816 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCCCGCTCCCGATCCCGGTCC 0.647000 25 43 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20907004 20907004 + Missense_Mutation SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr11:20907004T>C ENST00000298925.5 + 6 758 c.605T>C c.(604-606)gTg>gCg p.V202A NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000357134.5_Missense_Mutation_p.V174A Q92832 NELL1_HUMAN NEL-like 1 (chicken) 174 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TATGAGCGTGTGATAGACCCT 0.433000 20 32 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45291949 45291949 + Silent SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:45291949G>A ENST00000447098.2 - 19 3098 c.3087C>T c.(3085-3087)ggC>ggT p.G1029G PTCH2_ENST00000372192.3_Silent_p.G1029G NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 1029 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TGAACTCAACGCCAATGCCTA 0.542000 Basal Cell Nevus syndrome 20 20 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85952327 85952327 + Silent SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr16:85952327C>T ENST00000268638.5 + 7 1328 c.906C>T c.(904-906)aaC>aaT p.N302N IRF8_ENST00000562492.1_Silent_p.N98N NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 302 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GCAGCGGCAACGCCGTGGTGT 0.657000 8 45 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826500 13826500 + Missense_Mutation SNP G G A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr18:13826500G>A ENST00000324750.3 + 1 958 c.736G>A c.(736-738)Gtg>Atg p.V246M NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 246 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCTGCTGGGCGTGTTTACCGT 0.597000 9 169 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028371 59028371 + Missense_Mutation SNP C C T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:59028371C>T ENST00000594051.1 - 2 1150 c.670G>A c.(670-672)Gaa>Aaa p.E224K ZBTB45_ENST00000354590.3_Missense_Mutation_p.E224K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E224K Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CCGCCACCTTCGCCATCCTCG 0.662000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 332 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66361141 66361141 + Missense_Mutation SNP C C A TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr4:66361141C>A ENST00000273854.3 - 4 1631 c.1031G>T c.(1030-1032)aGg>aTg p.R344M EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R344M|EPHA5_ENST00000354839.4_Missense_Mutation_p.R344M NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 344 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AGACTCTCTCCTGAAATAATC 0.463000 TSP Lung(17;0.13) 15 140 5.3912e-06 5.72297e-06 1 1 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 256 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409585 159409586 + Frame_Shift_Del DEL AA AA - TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr1:159409585_159409586delAA ENST00000423932.3 + 1 74_75 c.37_38delAA c.(37-39)afs p.K13fs RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 13 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CCAATCCATGAAAAGAGAGAAC 0.386 13 85 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67327780 67327781 + Frame_Shift_Ins INS - - G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr16:67327780_67327781insG ENST00000304372.5 - 12 1939_1940 c.1884_1885insC c.(1882-1887)ccccacfs p.H629fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 629 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ATGGGAGTGGCGGGAGGGTCTT 0.540 7 334 --- --- --- --- GGNBP2 79893 broad.mit.edu 37 17 34901690 34901691 + Frame_Shift_Ins INS - - C TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr17:34901690_34901691insC ENST00000485685.2 + 2 409_410 c.117_118insC c.(115-120)ggccgcfs p.R40fs GGNBP2_ENST00000304718.4_Intron Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 0 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) gccgggctgggcccgccgcTCC 0.678 5 6 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42793215 42793218 + Frame_Shift_Del DEL CAGT CAGT - TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:42793215_42793218delCAGT ENST00000572681.2 + 8 3902_3905 c.3834_3837delCAGT c.(3832-3837)gafs p.DS1278fs CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 369 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GAGAAGTAGACAGTCAGGCGCTAC 0.667 """Mis, F, S""" oligodendroglioma 69 61 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 48994758 48994758 + Frame_Shift_Del DEL G G - TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr19:48994758delG ENST00000600059.1 - 13 4358 c.4131delC c.(4129-4131)ccfs p.P1377fs LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1406fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TGTCCCCCTCGGGGGGGGCCT 0.662 2 4 --- --- --- --- KCNJ15 3772 broad.mit.edu 37 21 39671497 39671497 + Frame_Shift_Del DEL C C - rs148451839 byFrequency TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx d76920e6-de91-44c6-a5ba-98d68160b97b 48f07e33-5a95-4c81-bc74-94f9238ae1c9 g.chr21:39671497delC ENST00000398930.1 + 4 668 c.314delC c.(313-315)acfs p.T105fs KCNJ15_ENST00000398932.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398938.2_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000328656.3_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398934.1_Frame_Shift_Del_p.T105fs Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 105 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TCAAATCATACCCCCTGCATC 0.488 15 135 --- --- --- ---