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 SNX25 83891 broad.mit.edu 37 4 186283809 186283809 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:186283809A>G ENST00000504273.1 + 18 2680 c.2386A>G c.(2386-2388)Ata>Gta p.I796V SNX25_ENST00000264694.8_Missense_Mutation_p.I796V|SNX25_ENST00000512853.1_3'UTR Q9H3E2 SNX25_HUMAN sorting nexin 25 796 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CCGCCACGGTATAATAAAAAT 0.388000 58 194 0 0 0.014410 0 0 C12orf52 84934 broad.mit.edu 37 12 113624689 113624689 + Silent SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:113624689G>A ENST00000548278.1 + 3 830 c.138G>A c.(136-138)cgG>cgA p.R46R RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.R46R|C12orf52_ENST00000552495.1_Silent_p.R70R NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 46 negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 CAGGCACCCGGCCTACCCCAC 0.642000 7 31 0 0 0.006214 0 0 SLC38A7 55238 broad.mit.edu 37 16 58705074 58705074 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr16:58705074C>A ENST00000570101.1 - 9 1989 c.1106G>T c.(1105-1107)cGg>cTg p.R369L SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.R280L|SLC38A7_ENST00000219320.4_Missense_Mutation_p.R369L Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 369 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 CAGCACTCGCCGCCGCCGCTC 0.667000 4 24 0.00909568 0.00983068 0.009096 1 0 OR5D18 219438 broad.mit.edu 37 11 55587567 55587567 + Silent SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:55587567C>G ENST00000333976.4 + 1 482 c.462C>G c.(460-462)gtC>gtG p.V154V NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CCTGGGGAGTCTCATGTTCCT 0.478000 34 138 0 0 0.013726 0 0 EPPK1 83481 broad.mit.edu 37 8 144940804 144940804 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:144940804C>T ENST00000525985.1 - 2 6689 c.6618G>A c.(6616-6618)acG>acA p.T2206T P58107 EPIPL_HUMAN epiplakin 1 2206 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCTTGCGTCGTGCTCCGTC 0.622000 49 196 0 0 0.014410 0 0 SLC2A12 154091 broad.mit.edu 37 6 134349644 134349644 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:134349644G>A ENST00000275230.5 - 2 1474 c.1319C>T c.(1318-1320)gCt>gTt p.A440V NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 440 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GCTTAATCCAGCATTTAGCAA 0.478000 21 73 0 0 0.002780 0 0 KMT2C 58508 broad.mit.edu 37 7 151970855 151970855 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr7:151970855G>C ENST00000355193.2 - 7 1165 c.947C>G c.(946-948)aCc>aGc p.T316S KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S lysine (K)-specific methyltransferase 2C p.T316S(2) ATCCTGAAAGGTGCCGGCTCC 0.433000 5 236 0 0 0.001168 0 0 AK4 205 broad.mit.edu 37 1 65684449 65684449 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:65684449C>T ENST00000395334.2 + 4 636 c.278C>T c.(277-279)aCa>aTa p.T93I AK4_ENST00000546702.1_Missense_Mutation_p.T41I|AK4_ENST00000327299.7_Missense_Mutation_p.T93I|AK4_ENST00000545314.1_Missense_Mutation_p.T93I|AK4_ENST00000470888.2_3'UTR NM_001005353.2 NP_001005353.1 P27144 KAD4_HUMAN adenylate kinase 4 93 mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 9 TTTCCTAGGACATTAGGACAA 0.388000 9 42 0 0 0.008291 0 0 NIM1K 167359 broad.mit.edu 37 5 43280501 43280501 + Silent SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr5:43280501G>C ENST00000512796.1 + 4 2480 c.981G>C c.(979-981)ggG>ggC p.G327G NIM1_ENST00000326035.2_Silent_p.G327G Q8IY84 NIM1_HUMAN 327 ATP binding|magnesium ion binding|protein serine/threonine kinase activity GGATGCAAGGGGTGCCATACC 0.502000 17 74 0 0 0.004990 0 0 STAB1 23166 broad.mit.edu 37 3 52557481 52557481 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr3:52557481C>A ENST00000321725.6 + 65 7255 c.7179C>A c.(7177-7179)aaC>aaA p.N2393K NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2393 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATGCCTCCAACGCCACCCTCC 0.617000 9 21 7.48243e-07 8.99573e-07 0.006214 1 0 HS3ST3B1 9953 broad.mit.edu 37 17 14205268 14205268 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:14205268G>T ENST00000360954.2 + 1 869 c.433G>T c.(433-435)Gtg>Ttg p.V145L NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 145 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CATCATCGGCGTGAAGAAGGG 0.667000 4 19 2.56e-06 3.01011e-06 0.009096 1 0 CCSER1 401145 broad.mit.edu 37 4 91229530 91229530 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:91229530C>T ENST00000509176.1 + 2 383 c.95C>T c.(94-96)tCa>tTa p.S32L CCSER1_ENST00000432775.2_Missense_Mutation_p.S32L|CCSER1_ENST00000333691.8_Missense_Mutation_p.S32L NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 CTTCCTTCTTCACCTTCTTCC 0.468000 6 34 0 0 0.001984 0 0 LINC00922 283867 broad.mit.edu 37 16 65319299 65319299 + RNA SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr16:65319299C>T ENST00000569736.1 - 0 862 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 GGATTGTAGCCTGGCTCCACA 0.473000 7 45 0 0 0.001984 0 0 TLN2 83660 broad.mit.edu 37 15 62989996 62989996 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr15:62989996G>A ENST00000561311.1 + 14 1632 c.1402G>A c.(1402-1404)Gtt>Att p.V468I TLN2_ENST00000306829.6_Missense_Mutation_p.V468I Q9Y4G6 TLN2_HUMAN talin 2 468 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GACCTTCAACGTTGGCAGCAT 0.667000 17 25 0 0 0.004990 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 99 0 0 0.010729 0 0 ZNF99 7652 broad.mit.edu 37 19 22940099 22940099 + Missense_Mutation SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr19:22940099T>G ENST00000397104.3 - 6 2231 c.2232A>C c.(2230-2232)aaA>aaC p.K744N zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ATTTGTAGGGTTTCTTTCCAG 0.348000 12 55 0 0 0.003163 0 0 EPHB2 2048 broad.mit.edu 37 1 23219501 23219501 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:23219501G>A ENST00000400191.3 + 7 1571 c.1553G>A c.(1552-1554)cGc>cAc p.R518H EPHB2_ENST00000374632.3_Missense_Mutation_p.R518H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R518H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R513H NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 518 Fibronectin type-III 2. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGTTACGGGCGCTACAGCGGC 0.592000 19 50 0 0 0.008871 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999772 46999772 + Missense_Mutation SNP G G A rs148764984 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:46999772G>A ENST00000374314.4 + 1 1847 c.892G>A c.(892-894)Ggt>Agt p.G298S GPRIN2_ENST00000374317.1_Missense_Mutation_p.G298S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 298 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CCACCTTTGGGGTCCCGCTGG 0.612000 3 64 0 0 0.004672 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145724384 145724384 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:145724384C>T ENST00000292539.4 + 4 1333 c.416C>T c.(415-417)aCg>aTg p.T139M PPP1R16A_ENST00000435887.1_Missense_Mutation_p.T139M|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 139 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GAGTGCTGGACGCCTCTGCAT 0.622000 10 49 0 0 0.010729 0 0 IDO1 3620 broad.mit.edu 37 8 39785691 39785691 + Missense_Mutation SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:39785691T>G ENST00000518237.1 + 10 1838 c.1199T>G c.(1198-1200)tTg>tGg p.L400W IDO1_ENST00000522495.1_Missense_Mutation_p.L400W|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 400 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) AAATCCCTTTTGAAGGAAGGT 0.398000 4 15 0 0 0.009096 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870837 12870837 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:12870837G>A ENST00000378847.3 + 11 1446 c.1109G>A c.(1108-1110)cGg>cAg p.R370Q NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 370 calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) GGAGCCGAGCGGAGACCCAGG 0.642000 7 26 0 0 0.003080 0 0 GTF2E1 2960 broad.mit.edu 37 3 120469672 120469672 + Nonsense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr3:120469672C>G ENST00000283875.5 + 2 366 c.273C>G c.(271-273)taC>taG p.Y91* NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 91 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GCCATAACTACTACTTCATCA 0.398000 9 38 0 0 0.004482 0 0 REEP1 65055 broad.mit.edu 37 2 86459838 86459838 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:86459838C>T ENST00000165698.5 - 6 648 c.505G>A c.(505-507)Ggc>Agc p.G169S REEP1_ENST00000535845.1_Missense_Mutation_p.G142S|REEP1_ENST00000541910.1_Silent_p.R90R|REEP1_ENST00000540790.1_Missense_Mutation_p.G148S|REEP1_ENST00000538924.1_Missense_Mutation_p.G176S NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 169 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 GGTGGGGGGCCCGAGGGAGCA 0.647000 9 25 0 0 0.008291 0 0 PDCD11 22984 broad.mit.edu 37 10 105201732 105201732 + Splice_Site SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:105201732G>A ENST00000369797.3 + 31 4801 c.4707_splice c.e31+1 p.T1569_splice NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1569 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACCAAGCCACGGTGCTGTATT 0.572000 5 35 0 0 0.008291 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 13 0 0 0.004672 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 131 0 0 0.009096 0 0 FAM155A 728215 broad.mit.edu 37 13 107863084 107863084 + Missense_Mutation SNP A A T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr13:107863084A>T ENST00000375915.2 - 2 1073 c.935T>A c.(934-936)cTc>cAc p.L312H NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 312 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTGGGAACAGAGCCAGGCTTT 0.413000 OREG0022506 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 41 0 0 0.001984 0 0 ACYP1 97 broad.mit.edu 37 14 75520263 75520263 + Missense_Mutation SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr14:75520263T>C ENST00000555463.1 - 3 465 c.274A>G c.(274-276)Atg>Gtg p.M92V ACYP1_ENST00000238618.3_Missense_Mutation_p.M62V|ACYP1_ENST00000357971.3_3'UTR|ACYP1_ENST00000555694.1_Missense_Mutation_p.M62V P07311 ACYP1_HUMAN acylphosphatase 1, erythrocyte (common) type 62 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.00646) CATTCCTGCATATGACGCACC 0.468000 49 138 0 0 0.014410 0 0 OTOGL 283310 broad.mit.edu 37 12 80655768 80655768 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:80655768G>A ENST00000458043.2 + 18 1888 c.1882G>A c.(1882-1884)Gaa>Aaa p.E628K OTOGL_ENST00000547103.1_Missense_Mutation_p.E628K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGGCATGATAGAAGGTACACC 0.398000 11 58 0 0 0.013537 0 0 GRM8 2918 broad.mit.edu 37 7 126746588 126746588 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr7:126746588C>T ENST00000339582.2 - 3 1497 c.689G>A c.(688-690)aGc>aAc p.S230N GRM8_ENST00000358373.3_Missense_Mutation_p.S230N|GRM8_ENST00000444921.2_Missense_Mutation_p.S230N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S230N O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 230 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTCCACACCGCTCTCACCATA 0.507000 HNSCC(24;0.065) 10 35 0 0 0.006214 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551063 100551063 + RNA SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:100551063G>A ENST00000397112.4 - 0 1893 AC010203.1_ENST00000408843.1_RNA NR_036632.1 large_intestine(1)|lung(3) 4 CAGACGCTGGGGCCCCTCTGA 0.607000 17 62 0 0 0.004990 0 0 LCLAT1 253558 broad.mit.edu 37 2 30790956 30790956 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:30790956C>T ENST00000309052.4 + 6 865 c.656C>T c.(655-657)gCt>gTt p.A219V LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219V|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219V|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181V|LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181V NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 219 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 AATGCATTTGCTGAAAAAAAT 0.338000 10 54 0 0 0.006214 0 0 C1orf173 127254 broad.mit.edu 37 1 75072553 75072553 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:75072553C>T ENST00000326665.5 - 10 1439 c.1221G>A c.(1219-1221)ccG>ccA p.P407P C1orf173_ENST00000420661.2_Silent_p.P210P|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 407 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCGGCAAAGACGGTTTTTTGT 0.418000 23 115 0 0 0.003954 0 0 PELP1 27043 broad.mit.edu 37 17 4607440 4607440 + Silent SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:4607440T>C ENST00000572293.1 - 1 180 c.117A>G c.(115-117)tcA>tcG p.S39S PELP1_ENST00000301396.4_5'UTR|PELP1_ENST00000269230.7_5'UTR NM_014389.2 NP_055204.3 Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 662 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CGTGGCGCGATGACGCAAACA 0.726000 4 11 0 0 0.009096 0 0 MAOA 4128 broad.mit.edu 37 X 43590580 43590580 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chrX:43590580C>T ENST00000338702.3 + 7 861 c.738C>T c.(736-738)caC>caT p.H246H MAOA_ENST00000542639.1_Silent_p.H113H|MAOA_ENST00000497485.1_3'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 246 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) CTGTCACTCACGTTGACCAGT 0.453000 22 14 0 0 0.014323 0 0 PER1 5187 broad.mit.edu 37 17 8047139 8047139 + Silent SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:8047139G>A ENST00000317276.4 - 19 2754 c.2517C>T c.(2515-2517)gcC>gcT p.A839A PER1_ENST00000581082.1_Silent_p.A816A|PER1_ENST00000578089.1_5'UTR NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 839 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTGAGCGCTTGGCTTTGGATC 0.672000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 16 35 0 0 0.012319 0 0 ZNF767 79970 broad.mit.edu 37 7 149255890 149255890 + RNA SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr7:149255890G>C ENST00000463567.1 - 0 640 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) gtgacaactcgcataagttac 0.488000 8 53 0 0 0.006214 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951241 30951241 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr22:30951241C>A ENST00000402321.1 - 3 1288 c.971G>T c.(970-972)cGg>cTg p.R324L GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R324L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R324L Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 324 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CATGCGCTCCCGCCCGAAGGC 0.711000 5 10 3.59834e-05 4.05286e-05 0.001168 1 0 BAGE2 85319 broad.mit.edu 37 21 11039224 11039224 + RNA SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr21:11039224T>C ENST00000470054.1 - 0 979 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTGATTCTTCTTTGGATACCA 0.423000 11 246 0 0 0.008291 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47591350 47591350 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr20:47591350C>T ENST00000371917.4 + 13 1713 c.1713C>T c.(1711-1713)ctC>ctT p.L571L NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 571 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGTCCATTCTCAAGTGCATGG 0.507000 8 17 0 0 0.013537 0 0 GPR22 2845 broad.mit.edu 37 7 107114861 107114861 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr7:107114861A>G ENST00000304402.4 + 3 1699 c.356A>G c.(355-357)gAg>gGg p.E119G COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 119 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 TGTTTCCATGAGGCTTGTGTA 0.388000 28 81 0 0 0.007291 0 0 ATF1 466 broad.mit.edu 37 12 51173954 51173954 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:51173954C>T ENST00000262053.3 + 2 48 c.26C>T c.(25-27)aCg>aTg p.T9M ATF1_ENST00000539132.1_5'UTR NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 9 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 AAGAGTACCACGTCAGAGACA 0.408000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 68 177 0 0 0.014410 0 0 ATP2A2 488 broad.mit.edu 37 12 110783837 110783837 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:110783837C>T ENST00000395494.2 + 18 3255 c.2692C>T c.(2692-2694)Ccc>Tcc p.P898S ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P925S P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 925 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GCTGAGGATGCCCCCCTGGGA 0.577000 4 83 0 0 0.009096 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756943 56756943 + Silent SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:56756943T>G ENST00000326855.2 + 1 597 c.555T>G c.(553-555)ctT>ctG p.L185L NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CCCCTATTCTTGCTCTTTCAT 0.403000 48 221 0 0 0.014410 0 0 FOXB1 27023 broad.mit.edu 37 15 60297484 60297484 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr15:60297484C>A ENST00000396057.4 + 2 801 c.322C>A c.(322-324)Cgc>Agc p.R108S FOXB1_ENST00000560857.1_Intron NM_012182.2 NP_036314.2 Q99853 FOXB1_HUMAN forkhead box B1 108 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 GCGCCGCAAGCGCTTCAAGGT 0.706000 10 17 6.40141e-05 7.13491e-05 0.010729 1 0 MC5R 4161 broad.mit.edu 37 18 13826449 13826449 + Silent SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr18:13826449C>A ENST00000324750.3 + 1 907 c.685C>A c.(685-687)Cgg>Agg p.R229R NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 229 ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.R229W(1) 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 CAGCTCTGCGCGGCAGAGGAC 0.617000 35 137 3.03874e-20 3.87078e-20 0.003271 1 0 RXFP2 122042 broad.mit.edu 37 13 32371542 32371542 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr13:32371542G>A ENST00000298386.2 + 17 2062 c.1991G>A c.(1990-1992)cGg>cAg p.R664Q RXFP2_ENST00000380314.1_Missense_Mutation_p.R640Q NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 664 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TCCCTCTTCCGGGTGGAAATA 0.423000 3 88 0 0 0.004672 0 0 KRT31 3881 broad.mit.edu 37 17 39551520 39551520 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:39551520C>G ENST00000251645.2 - 5 905 c.853G>C c.(853-855)Gag>Cag p.E285Q NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 285 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCCTGCAGCTCGATCTCCAGG 0.607000 14 64 0 0 0.003163 0 0 ERBB4 2066 broad.mit.edu 37 2 212426697 212426697 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:212426697C>G ENST00000342788.4 - 20 2728 c.2418G>C c.(2416-2418)gaG>gaC p.E806D ERBB4_ENST00000402597.1_Missense_Mutation_p.E796D|ERBB4_ENST00000436443.1_Missense_Mutation_p.E806D NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 806 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGTGGACATACTCCAACAGGC 0.483000 TSP Lung(8;0.080) 27 107 0 0 0.010818 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564673 33564673 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:33564673G>C ENST00000321505.4 + 1 853 c.673G>C c.(673-675)Gaa>Caa p.E225Q KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E225Q|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E225Q KIAA1549-like TCCTGTGCCAGAAATGCCCAC 0.537000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 74 0 0 0.004990 0 0 VPS52 6293 broad.mit.edu 37 6 33234453 33234453 + Missense_Mutation SNP C C T rs146611103 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:33234453C>T ENST00000445902.2 - 12 1380 c.1162G>A c.(1162-1164)Gcc>Acc p.A388T VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.A263T|VPS52_ENST00000482399.1_3'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 388 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TCTAGGAGGGCGTAGTGCTGG 0.522000 7 51 0 0 0.001984 0 0 HELZ 9931 broad.mit.edu 37 17 65174905 65174905 + Missense_Mutation SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:65174905T>C ENST00000358691.5 - 13 1466 c.1300A>G c.(1300-1302)Att>Gtt p.I434V HELZ_ENST00000580168.1_Missense_Mutation_p.I434V NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GAGAGGGGAATTTGGTATCTG 0.383000 5 102 0 0 0.001168 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 48 0 0 0.001855 0 0 BCORL1 63035 broad.mit.edu 37 X 129147297 129147297 + Silent SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chrX:129147297C>A ENST00000540052.1 + 3 593 c.549C>A c.(547-549)gtC>gtA p.V183V BCORL1_ENST00000359304.2_Silent_p.V183V|BCORL1_ENST00000218147.7_Silent_p.V183V|BCORL1_ENST00000303743.5_Silent_p.V183V NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 183 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GAACTGGAGTCCCTGTGGAGG 0.577000 9 30 0.000978159 0.001079 0.010729 1 0 DDX58 23586 broad.mit.edu 37 9 32488812 32488812 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr9:32488812C>T ENST00000379882.1 - 6 895 c.738G>A c.(736-738)ggG>ggA p.G246G DDX58_ENST00000379883.2_Silent_p.G291G|DDX58_ENST00000542096.1_Silent_p.G220G|DDX58_ENST00000545044.1_Silent_p.G88G|DDX58_ENST00000379868.1_Silent_p.G88G O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 291 detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) AGACAACTTTCCCCTTTTGTC 0.338000 10 29 0 0 0.006214 0 0 DUSP22 56940 broad.mit.edu 37 6 348863 348863 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:348863G>T ENST00000604971.1 + 4 1334 c.221G>T c.(220-222)cGc>cTc p.R74L DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.R177L|DUSP22_ENST00000603453.1_Missense_Mutation_p.R74L|DUSP22_ENST00000605315.1_Missense_Mutation_p.R74L|DUSP22_ENST00000605035.1_3'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 0 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GAGCAAGGGCGCACAGAGCCC 0.552000 3 31 0.004672 0.00510106 0.004672 1 0 TAS2R1 50834 broad.mit.edu 37 5 9629960 9629960 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr5:9629960A>G ENST00000382492.2 - 1 503 c.185T>C c.(184-186)aTc>aCc p.I62T CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 62 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AACGTAGAAGATGAACAACTG 0.368000 22 28 0 0 0.003330 0 0 PICALM 8301 broad.mit.edu 37 11 85779753 85779753 + Missense_Mutation SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr11:85779753T>G ENST00000526033.1 - 1 386 c.70A>C c.(70-72)Aag>Cag p.K24Q PICALM_ENST00000532317.1_Missense_Mutation_p.K24Q|PICALM_ENST00000393346.3_Missense_Mutation_p.K24Q|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000356360.5_Missense_Mutation_p.K24Q|PICALM_ENST00000528398.1_Intron NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 24 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CATACTGTCTTGGATACGGCA 0.662000 T """MLLT10, MLL""" """TALL, AML, """ 10 16 0 0 0.013537 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664505 50664505 + Missense_Mutation SNP T T A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr22:50664505T>A ENST00000439308.2 - 9 2299 c.1807A>T c.(1807-1809)Aac>Tac p.N603Y TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.N603Y NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 603 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCAGCAGGTTAATGGTCTTT 0.582000 6 140 0 0 0.001168 0 0 SGK3 23678 broad.mit.edu 37 8 67771691 67771691 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:67771691G>C ENST00000396596.1 + 17 1580 c.1366G>C c.(1366-1368)Gaa>Caa p.E456Q C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.E456Q|SGK3_ENST00000521198.2_Missense_Mutation_p.E456Q|SGK3_ENST00000520976.1_Missense_Mutation_p.E424Q|SGK3_ENST00000345714.4_Missense_Mutation_p.E456Q|SGK3_ENST00000522398.1_Missense_Mutation_p.E456Q NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 456 AGC-kinase C-terminal. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATTTACAGAAGAAACAGTTCC 0.363000 36 72 0 0 0.003755 0 0 OR12D2 26529 broad.mit.edu 37 6 29365111 29365111 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:29365111C>T ENST00000383555.2 + 1 696 c.635C>T c.(634-636)aCa>aTa p.T212I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TTCTTTCTGACACTTCTCTCC 0.468000 22 147 0 0 0.012319 0 0 OR10R2 343406 broad.mit.edu 37 1 158450102 158450102 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:158450102C>T ENST00000368152.1 + 1 435 c.435C>T c.(433-435)gcC>gcT p.A145A RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GCTATGCTGCCATTTGTCACC 0.488000 45 205 0 0 0.014410 0 0 PCNXL2 80003 broad.mit.edu 37 1 233313598 233313598 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:233313598G>T ENST00000258229.8 - 17 3457 c.3223C>A c.(3223-3225)Ctg>Atg p.L1075M PCNXL2_ENST00000488780.2_Missense_Mutation_p.L208M NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1075 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GACTCTGCCAGATTTTGATGT 0.428000 4 52 1.23904e-05 1.42556e-05 0.000602 1 0 FOXJ2 55810 broad.mit.edu 37 12 8200482 8200482 + Missense_Mutation SNP T T A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:8200482T>A ENST00000162391.3 + 7 1967 c.822T>A c.(820-822)ttT>ttA p.F274L FOXJ2_ENST00000428177.2_Missense_Mutation_p.F274L NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 274 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) CTGCAGGCTTTTCTTCTCTCC 0.532000 18 67 0 0 0.008871 0 0 RIC8B 55188 broad.mit.edu 37 12 107254159 107254159 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:107254159G>T ENST00000392837.4 + 8 1571 c.1420G>T c.(1420-1422)Gac>Tac p.D474Y RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Missense_Mutation_p.D434Y|RIC8B_ENST00000392839.2_Missense_Mutation_p.D474Y Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 474 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 TGAGGACACAGACACTGAAGA 0.438000 6 31 3.59834e-05 4.05286e-05 0.001168 1 0 CSMD1 64478 broad.mit.edu 37 8 3351179 3351179 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:3351179C>T ENST00000520002.1 - 12 1972 c.1417G>A c.(1417-1419)Ggg>Agg p.G473R CSMD1_ENST00000537824.1_Missense_Mutation_p.G472R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G472R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G473R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G473R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G473R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G472R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 473 CUB 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCACCTTCCCAGCATCACCA 0.507000 4 9 0 0 0.000602 0 0 SON 6651 broad.mit.edu 37 21 34931551 34931551 + Missense_Mutation SNP G G A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr21:34931551G>A ENST00000356577.4 + 5 6812 c.6337G>A c.(6337-6339)Gca>Aca p.A2113T SON_ENST00000300278.4_Missense_Mutation_p.A2113T|SON_ENST00000290239.6_Missense_Mutation_p.A2113T|SON_ENST00000381692.2_Missense_Mutation_p.A141T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 2113 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TAAACAGATCGCACAGAGTAA 0.308000 12 42 0 0 0.013537 0 0 TEX15 56154 broad.mit.edu 37 8 30703495 30703495 + Silent SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:30703495T>C ENST00000256246.2 - 1 3113 c.3039A>G c.(3037-3039)acA>acG p.T1013T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1013 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTGCAAAGATGTGTGAACTC 0.343000 42 98 0 0 0.014410 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033054 52033054 + Silent SNP T T G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr19:52033054T>G ENST00000346477.3 - 4 956 c.888A>C c.(886-888)gcA>gcC p.A296A SIGLEC6_ENST00000436458.1_Silent_p.A260A|SIGLEC6_ENST00000425629.3_Silent_p.A312A|SIGLEC6_ENST00000343300.4_Silent_p.A312A|SIGLEC6_ENST00000391797.3_Silent_p.A301A|SIGLEC6_ENST00000359982.4_Silent_p.A323A NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 312 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTCCTTCTTCTGCAGACCCTA 0.607000 14 32 0 0 0.002450 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819421 50819421 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:50819421G>C ENST00000374115.3 + 1 1075 c.635G>C c.(634-636)cGt>cCt p.R212P CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 212 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GAGCGCAGTCGTGCACTGGGC 0.672000 4 13 0 0 0.009096 0 0 MARK3 4140 broad.mit.edu 37 14 103958157 103958157 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr14:103958157A>G ENST00000429436.2 + 15 2140 c.1630A>G c.(1630-1632)Atc>Gtc p.I544V MARK3_ENST00000335102.5_Missense_Mutation_p.I567V|MARK3_ENST00000303622.9_Missense_Mutation_p.I544V|MARK3_ENST00000440884.3_Missense_Mutation_p.I465V|MARK3_ENST00000216288.7_Missense_Mutation_p.I528V|MARK3_ENST00000553942.1_Missense_Mutation_p.I544V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.I567V NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 544 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) AACACACAGTATCAGTAGTGC 0.488000 11 45 0 0 0.008291 0 0 C1orf51 148523 broad.mit.edu 37 1 150255844 150255844 + Missense_Mutation SNP G G C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:150255844G>C ENST00000290363.5 + 1 616 c.167G>C c.(166-168)cGg>cCg p.R56P C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56P NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 56 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGAGGTTCACGGCCCAGCCCG 0.602000 8 170 0 0 0.006214 0 0 MEPE 56955 broad.mit.edu 37 4 88755893 88755893 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:88755893C>T ENST00000395102.4 + 2 137 c.27C>T c.(25-27)ctC>ctT p.L9L MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Silent_p.L9L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000424957.3_Silent_p.L9L|MEPE_ENST00000511670.1_Silent_p.L9L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_5'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 9 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TGGGACTACTCCTTTTCAGTG 0.368000 17 76 0 0 0.012319 0 0 PKIG 11142 broad.mit.edu 37 20 43246985 43246985 + Missense_Mutation SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr20:43246985G>T ENST00000372889.1 + 6 796 c.211G>T c.(211-213)Gat>Tat p.D71Y Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372891.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372886.1_Missense_Mutation_p.D71Y|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000349959.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372892.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372894.3_Missense_Mutation_p.D71Y Q9Y2B9 IPKG_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor gamma 71 cAMP-dependent protein kinase inhibitor activity|protein binding breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CCAGAGCAGCGATGGGACCAC 0.587000 37 132 9.62906e-15 1.18426e-14 0.006230 1 0 PCSK5 5125 broad.mit.edu 37 9 78969062 78969062 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr9:78969062C>T ENST00000545128.1 + 36 5638 c.5100C>T c.(5098-5100)agC>agT p.S1700S NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 765 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGGACGACAGCCACTGCCTCC 0.602000 3 10 0 0 0.004672 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 4 67 0 0 0.009096 0 0 LATS1 9113 broad.mit.edu 37 6 150001304 150001304 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:150001304C>A ENST00000543571.1 - 5 2847 c.2300G>T c.(2299-2301)cGt>cTt p.R767L LATS1_ENST00000253339.5_Missense_Mutation_p.R767L|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 767 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATAATATAGACGAACTACCCA 0.373000 22 58 3.7963e-18 4.72331e-18 0.003330 1 0 HIST1H2AG 8969 broad.mit.edu 37 6 27100994 27100994 + Silent SNP G G T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr6:27100994G>T ENST00000359193.2 + 1 163 c.144G>T c.(142-144)gcG>gcT p.A48A NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 48 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 GGGCCGGCGCGCCGGTGTATC 0.682000 14 58 9.31168e-06 1.08299e-05 0.001855 1 0 TACR2 6865 broad.mit.edu 37 10 71175838 71175838 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr10:71175838C>T ENST00000373306.4 - 1 785 c.242G>A c.(241-243)tGc>tAc p.C81Y NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 81 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) GGCAGCCATGCAGAGGTCAGC 0.547000 11 16 0 0 0.008291 0 0 MOGS 7841 broad.mit.edu 37 2 74689540 74689540 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:74689540A>G ENST00000233616.4 - 4 1538 c.1376T>C c.(1375-1377)gTt>gCt p.V459A MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.V353A NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 459 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CCACCGCTGAACCACCAGCTG 0.597000 6 34 0 0 0.001168 0 0 PCDH10 57575 broad.mit.edu 37 4 134072815 134072815 + Missense_Mutation SNP T T C TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr4:134072815T>C ENST00000264360.4 + 1 2346 c.1520T>C c.(1519-1521)aTc>aCc p.I507T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 507 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GAGTGCCAGATCCAGGGCATG 0.577000 22 71 0 0 0.014323 0 0 COL4A2 1284 broad.mit.edu 37 13 111117869 111117869 + Missense_Mutation SNP C C T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr13:111117869C>T ENST00000360467.5 + 25 2200 c.1894C>T c.(1894-1896)Cgt>Tgt p.R632C NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 632 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAAAGGCCAACGTGGTTTCCC 0.632000 9 34 0 0 0.004482 0 0 WIPF1 7456 broad.mit.edu 37 2 175437112 175437112 + Missense_Mutation SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:175437112A>G ENST00000392547.2 - 5 520 c.421T>C c.(421-423)Ttt>Ctt p.F141L WIPF1_ENST00000392546.2_Missense_Mutation_p.F141L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.F141L|WIPF1_ENST00000409415.3_Missense_Mutation_p.F141L|WIPF1_ENST00000359761.3_Missense_Mutation_p.F141L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F141L NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 141 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGGGGTGAAAAGGGTTTCGCA 0.562000 3 51 0 0 0.004672 0 0 GJC1 10052 broad.mit.edu 37 17 42882699 42882699 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr17:42882699C>A ENST00000426548.1 - 3 756 c.487G>T c.(487-489)Gat>Tat p.D163Y GJC1_ENST00000330514.4_Missense_Mutation_p.D163Y|GJC1_ENST00000590758.1_Missense_Mutation_p.D163Y|GJC1_ENST00000592524.1_Missense_Mutation_p.D163Y NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 163 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) CGTCGGCCATCATGCTTAGGT 0.478000 27 127 6.12954e-19 7.716e-19 0.004656 1 0 ABRA 137735 broad.mit.edu 37 8 107782152 107782152 + Silent SNP A A G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr8:107782152A>G ENST00000311955.3 - 1 321 c.267T>C c.(265-267)caT>caC p.H89H NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 89 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTCCATCTCCATGTCCTTCTG 0.532000 13 129 0 0 0.001855 0 0 TRMT13 54482 broad.mit.edu 37 1 100602603 100602603 + Missense_Mutation SNP C C A TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:100602603C>A ENST00000370141.2 + 3 229 c.223C>A c.(223-225)Cat>Aat p.H75N TRMT13_ENST00000370143.1_Missense_Mutation_p.H75N|TRMT13_ENST00000370139.1_Missense_Mutation_p.H44N NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) ACTAGCAAAGCATTTGAAAAA 0.328000 10 55 2.80697e-09 3.41303e-09 0.010729 1 0 MCM8 84515 broad.mit.edu 37 20 5974238 5974238 + Missense_Mutation SNP C C G TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr20:5974238C>G ENST00000378896.3 + 18 2704 c.2327C>G c.(2326-2328)gCg>gGg p.A776G MCM8_ENST00000378883.1_Missense_Mutation_p.A729G|MCM8_ENST00000265187.4_Missense_Mutation_p.A760G|MCM8_ENST00000378886.2_Missense_Mutation_p.A816G NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 776 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 AGGTCAACAGCGAAAAGATTT 0.368000 18 93 0 0 0.006122 0 0 NRD1 4898 broad.mit.edu 37 1 52256303 52256304 + Frame_Shift_Ins INS - - CC TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:52256303_52256304insCC ENST00000354831.7 - 31 3462_3463 c.3273_3274insGG c.(3271-3276)aatgaafs p.NE1091fs NRD1_ENST00000539524.1_Frame_Shift_Ins_p.NE959fs|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.NE1023fs|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 1022 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 CACTCCTTCAGCTTGATGAGAG 0.545 14 67 --- --- --- --- RBM15 64783 broad.mit.edu 37 1 110884597 110884598 + Frame_Shift_Ins INS - - T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:110884597_110884598insT ENST00000369784.3 + 1 3470_3471 c.2570_2571insT c.(2569-2571)tgcfs p.C857fs RBM15_ENST00000487146.2_Frame_Shift_Ins_p.C857fs|RBM15_ENST00000602849.1_Frame_Shift_Ins_p.C857fs NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 857 SPOC. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCAATGGTTATGCCATTCTTT 0.540 T MKL1 acute megakaryocytic leukemia 53 111 --- --- --- --- ZNF687 57592 broad.mit.edu 37 1 151261022 151261023 + Frame_Shift_Ins INS - - T TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr1:151261022_151261023insT ENST00000368879.2 + 3 2232_2233 c.2134_2135insT c.(2134-2136)gatfs p.D712fs NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AACCTGCCCCATGATGCTCCCC 0.574 16 50 --- --- --- --- TGOLN2 10618 broad.mit.edu 37 2 85554626 85554627 + In_Frame_Ins INS - - GGT rs76078295 TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr2:85554626_85554627insGGT ENST00000377386.3 - 2 690_691 c.228_229insACC c.(226-231)accaga>acACCcaga p.76_77TR>TPR TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000398263.2_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000409232.3_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000444342.2_In_Frame_Ins_p.76_77TR>TPR O43493 TGON2_HUMAN trans-golgi network protein 2 76 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding GTGTCTTCTGGGGTCTGCGCCT 0.599 33 299 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 8 455 --- --- --- --- ZBTB25 7597 broad.mit.edu 37 14 64954345 64954345 + Frame_Shift_Del DEL A A - TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chr14:64954345delA ENST00000394715.1 - 6 1305 c.604delT c.(604-606)ccfs p.S202fs ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000261683.2_Frame_Shift_Del_p.S202fs P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 202 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TGCTTGATGGAAACTGGGGGC 0.567 61 221 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41088557 41088563 + Frame_Shift_Del DEL CACAATC CACAATC - TCGA-D6-6517-01A-11D-1870-08 TCGA-D6-6517-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c553e4a2-cbea-43d6-8937-a48836856b5a ee72db3d-dee6-4565-baa2-810612583853 g.chrX:41088557_41088563delCACAATC ENST00000324545.7 + 42 7746_7752 c.7113_7119delCACAATC c.(7111-7119)gafs p.DTI2371fs USP9X_ENST00000378308.2_Frame_Shift_Del_p.DTI2371fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2371 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 GGCTGTTTGACACAATCCAGCGCTCTA 0.362 5 5 --- --- --- ---