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 BCLAF1 9774 broad.mit.edu 37 6 136597082 136597082 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:136597082G>A ENST00000531224.1 - 5 1833 c.1581C>T c.(1579-1581)ttC>ttT p.F527F BCLAF1_ENST00000527536.1_Silent_p.F527F|BCLAF1_ENST00000392348.2_Silent_p.F525F|BCLAF1_ENST00000530767.1_Silent_p.F354F|BCLAF1_ENST00000527759.1_Silent_p.F525F|BCLAF1_ENST00000353331.4_Silent_p.F525F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 527 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTTCCTCTCTGAAGGTAGACT 0.443000 22 296 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197639559 197639559 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:197639559C>G ENST00000265239.6 - 9 1374 c.950G>C c.(949-951)aGa>aCa p.R317T IQCG_ENST00000455191.1_Missense_Mutation_p.R317T NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 317 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CTGCTCCTTTCTAAGGAACAT 0.413000 9 291 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111887861 111887861 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:111887861C>T ENST00000305815.5 - 25 3352 c.3100G>A c.(3100-3102)Gat>Aat p.D1034N SLC9C1_ENST00000487372.1_Missense_Mutation_p.D986N NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1034 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATTGGTATATCTACTACATAA 0.294000 12 60 0 0 1 0 0 FABP9 646480 broad.mit.edu 37 8 82370923 82370923 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:82370923C>G ENST00000379071.2 - 3 317 c.262G>C c.(262-264)Gag>Cag p.E88Q RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 88 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) GAGCCATTCTCTAATGTTATG 0.328000 23 42 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150555035 150555035 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:150555035G>T ENST00000493429.1 + 4 2061 c.1477G>T c.(1477-1479)Gag>Tag p.E493* AOC1_ENST00000360937.4_Nonsense_Mutation_p.E493*|AOC1_ENST00000467291.1_Nonsense_Mutation_p.E493*|AOC1_ENST00000416793.2_Nonsense_Mutation_p.E493*|AOC1_ENST00000480582.1_3'UTR amine oxidase, copper containing 1 CTACACCCCCGAGGGGCTGCG 0.567000 11 88 1.61879e-10 1.69438e-10 1 1 0 SAYSD1 55776 broad.mit.edu 37 6 39073546 39073546 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:39073546C>T ENST00000229903.4 - 2 313 c.214G>A c.(214-216)Gct>Act p.A72T SAYSD1_ENST00000373249.1_Missense_Mutation_p.A5T NM_018322.1 NP_060792.1 Q9NPB0 CF064_HUMAN SAYSVFN motif domain containing 1 72 integral to membrane TGGGGCTGAGCCGCTTCCTAG 0.463000 3 52 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231112765 231112765 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:231112765G>C ENST00000392045.3 + 8 991 c.877G>C c.(877-879)Gag>Cag p.E293Q SP140_ENST00000343805.6_Missense_Mutation_p.E267Q|SP140_ENST00000420434.3_Missense_Mutation_p.E293Q|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 293 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAGAGTCCAGAGGGAAGAGA 0.512000 9 29 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825348 8825348 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:8825348G>A ENST00000359865.3 + 15 3982 c.3840G>A c.(3838-3840)ttG>ttA p.L1280L SOGA2_ENST00000518815.1_Silent_p.L605L|SOGA2_ENST00000517570.1_Silent_p.L1239L|SOGA2_ENST00000400050.3_Silent_p.L1239L|SOGA2_ENST00000306329.11_Silent_p.L1599L|SOGA2_ENST00000306285.7_Silent_p.L605L NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1590 CCAAGAACTTGAGTGATGACA 0.602000 7 38 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227219120 227219120 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:227219120C>G ENST00000366769.3 - 27 4840 c.3549G>C c.(3547-3549)ctG>ctC p.L1183L CDC42BPA_ENST00000366767.3_Silent_p.L1102L|CDC42BPA_ENST00000535525.1_Silent_p.L1163L|CDC42BPA_ENST00000366766.2_Silent_p.L1218L|CDC42BPA_ENST00000334218.5_Silent_p.L1183L|CDC42BPA_ENST00000366764.2_Silent_p.L1155L|CDC42BPA_ENST00000366765.3_Silent_p.L1196L NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1196 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GCAATTCACTCAGCACTCCCA 0.423000 57 132 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100225578 100225578 + Silent SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:100225578G>T ENST00000462107.1 - 14 1844 c.1557C>A c.(1555-1557)gcC>gcA p.A519A TFR2_ENST00000544242.1_Silent_p.A60A|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.A519A Q9UP52 TFR2_HUMAN transferrin receptor 2 519 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGCTGGTCTTGGCATGAAACT 0.617000 32 91 5.60225e-13 5.89826e-13 1 1 0 ITGA2 3673 broad.mit.edu 37 5 52363045 52363045 + Missense_Mutation SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:52363045T>C ENST00000296585.5 + 16 2184 c.2041T>C c.(2041-2043)Ttc>Ctc p.F681L NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 681 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CAAACTCTGCTTCAGTGCAAA 0.373000 7 30 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212190357 212190357 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:212190357C>T ENST00000366994.3 - 4 484 c.380G>A c.(379-381)gGa>gAa p.G127E INTS7_ENST00000366992.3_Missense_Mutation_p.G127E|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.G78E|INTS7_ENST00000366993.3_Missense_Mutation_p.G127E NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 127 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TGCCAGACTTCCCAACATCCT 0.378000 14 84 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35467623 35467623 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:35467623G>C ENST00000237536.4 - 2 1250 c.909C>G c.(907-909)gtC>gtG p.V303V SOGA1_ENST00000357779.3_Silent_p.V65V|SOGA1_ENST00000279034.6_Silent_p.V65V NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 65 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GGCTGACCTTGACATCCTGCT 0.642000 40 80 0 0 1 0 0 OLA1 29789 broad.mit.edu 37 2 174946671 174946671 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:174946671C>T ENST00000284719.3 - 8 1096 c.850G>A c.(850-852)Gaa>Aaa p.E284K OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Missense_Mutation_p.E126K|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000409546.1_Missense_Mutation_p.E304K NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 284 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 ATGTTCGCTTCCAGATACTTC 0.403000 27 42 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39229850 39229850 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:39229850G>A ENST00000399820.3 + 16 1804 c.1650G>A c.(1648-1650)gaG>gaA p.E550E WDR19_ENST00000288634.7_Silent_p.E390E NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 550 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CTACCTATGAGATTCCAGATT 0.373000 12 20 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33475381 33475381 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:33475381G>A ENST00000268876.5 + 2 196 c.99G>A c.(97-99)ctG>ctA p.L33L UNC45B_ENST00000378449.1_Silent_p.L33L|UNC45B_ENST00000433649.1_Silent_p.L33L|UNC45B_ENST00000394570.2_Silent_p.L33L|UNC45B_ENST00000591048.1_Silent_p.L33L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 33 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GCCAGGCCCTGAAGCTGACCA 0.612000 11 52 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74239478 74239478 + Missense_Mutation SNP G G A rs141057976 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:74239478G>A ENST00000261921.7 + 4 1746 c.1420G>A c.(1420-1422)Gag>Aag p.E474K NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 474 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 GAAGGTGGCCGAGGGCCACAA 0.577000 7 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179452679 179452679 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:179452679C>T ENST00000589042.1 - 305 63679 c.63455G>A c.(63454-63456)gGt>gAt p.G21152D TTN_ENST00000591111.1_Missense_Mutation_p.G19511D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12212D|TTN_ENST00000460472.2_Missense_Mutation_p.G12087D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12279D|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18584D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19511 Fibronectin type-III 53. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGCCCAATACCAACTTGGTT 0.428000 3 41 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67265445 67265445 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:67265445G>C ENST00000356404.3 - 12 1950 c.1725C>G c.(1723-1725)ctC>ctG p.L575L PITPNM1_ENST00000534749.1_Silent_p.L575L|PITPNM1_ENST00000436757.2_Silent_p.L575L NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 575 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CACTGTGGCAGAGTGCATCAA 0.647000 6 24 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19166160 19166160 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:19166160G>A ENST00000535612.1 + 7 1542 c.1110G>A c.(1108-1110)acG>acA p.T370T ARMC6_ENST00000392335.2_Silent_p.T345T|ARMC6_ENST00000269932.6_Silent_p.T345T|ARMC6_ENST00000392336.3_Silent_p.T370T|ARMC6_ENST00000546344.1_Silent_p.T277T NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 370 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) CTGGTGGGACGGAGTCCATCG 0.612000 20 40 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 91957103 91957103 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:91957103G>T ENST00000265742.3 + 5 1052 c.676G>T c.(676-678)Gaa>Taa p.E226* NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 226 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAGCCATATGAAGGATTAAG 0.348000 5 13 0.000602214 0.000611304 1 1 0 ZMYM1 79830 broad.mit.edu 37 1 35579550 35579550 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:35579550G>A ENST00000373330.1 + 11 2293 c.2119G>A c.(2119-2121)Gat>Aat p.D707N ZMYM1_ENST00000359858.4_Missense_Mutation_p.D707N|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 707 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATTGGAGTTGATATGGATAA 0.358000 13 53 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576309 158576309 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:158576309C>G ENST00000361284.1 + 1 81 c.81C>G c.(79-81)ctC>ctG p.L27L NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGCTCCTTCTCTTTGCCTTGT 0.507000 24 56 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 85 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147084903 147084903 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:147084903G>C ENST00000234739.3 + 5 1015 c.275G>C c.(274-276)gGt>gCt p.G92A BCL9_ENST00000473292.1_Intron NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 92 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCTGGAAATGGTGCCAAGGGC 0.562000 T """IGH@, IGL@""" B-ALL 6 36 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411457 43411457 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43411457C>G ENST00000310826.5 - 3 2931 c.2748G>C c.(2746-2748)aaG>aaC p.K916N ZBTB21_ENST00000398499.1_Missense_Mutation_p.K916N|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K916N|ZBTB21_ENST00000398505.3_Missense_Mutation_p.K715N NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CCGTGAACATCTTCCCACACT 0.542000 15 68 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158257603 158257603 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:158257603C>T ENST00000296526.7 + 11 1873 c.1548C>T c.(1546-1548)ttC>ttT p.F516F GRIA2_ENST00000393815.2_Silent_p.F469F|GRIA2_ENST00000264426.9_Silent_p.F516F|GRIA2_ENST00000507898.1_Silent_p.F469F|GRIA2_ENST00000449365.1_Silent_p.F469F NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 516 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CAAAGCCCTTCATGAGCCTCG 0.408000 7 119 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553418 106553418 + Silent SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:106553418C>A ENST00000369096.4 + 5 1617 c.1383C>A c.(1381-1383)ctC>ctA p.L461L PRDM1_ENST00000369091.2_Silent_p.L425L|PRDM1_ENST00000369089.3_Silent_p.L327L NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 461 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) ACCCCATGCTCAACCCCACTT 0.642000 """D, N, Mis, F, S""" DLBCL 9 65 1.12685e-05 1.15256e-05 1 1 0 STAB1 23166 broad.mit.edu 37 3 52554285 52554285 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:52554285C>G ENST00000321725.6 + 52 5554 c.5478C>G c.(5476-5478)ttC>ttG p.F1826L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1826 FAS1 6. 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) CCATCTCTTTCTCCTGCAGCC 0.627000 11 99 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17639586 17639586 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:17639586C>T ENST00000377813.1 - 3 1870 c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.E523K Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 523 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TGAGCCCCTTCTGTCTTTTTA 0.552000 13 27 0 0 1 0 0 TEX33 339669 broad.mit.edu 37 22 37398159 37398159 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:37398159C>T ENST00000405091.2 - 4 459 c.208G>A c.(208-210)Gag>Aag p.E70K TEX33_ENST00000402860.3_5'UTR|TEX33_ENST00000381821.1_Missense_Mutation_p.E70K O43247 EAN57_HUMAN testis expressed 33 70 GGGGGAATCTCCTTCAAGTGG 0.632000 2 3 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46662724 46662724 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:46662724G>A ENST00000396420.3 - 3 789 c.153C>T c.(151-153)gtC>gtT p.V51V POMGNT1_ENST00000371984.3_Silent_p.V51V|POMGNT1_ENST00000371992.1_Silent_p.V51V|POMGNT1_ENST00000371986.3_Silent_p.V51V|POMGNT1_ENST00000535522.1_Silent_p.V29V Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 51 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) TATTGACAATGACAGTCACCA 0.527000 43 210 0 0 1 0 0 NSFL1C 55968 broad.mit.edu 37 20 1438861 1438861 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:1438861C>T ENST00000216879.4 - 3 1129 c.262G>A c.(262-264)Gaa>Aaa p.E88K NSFL1C_ENST00000350991.4_Missense_Mutation_p.E88K|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E88K|NSFL1C_ENST00000381658.4_Silent_p.R8R|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E88K NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 88 Poly-Glu. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 CCTTCCTCTTCCTCCTCATCT 0.478000 13 78 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531465 42531465 + Silent SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:42531465C>A ENST00000282030.5 + 4 2456 c.2160C>A c.(2158-2160)acC>acA p.T720T NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 720 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGAGGGGAACCATCTACATTG 0.562000 Schinzel-Giedion syndrome 12 33 0.010729 0.0108297 1 1 0 BCDIN3D 144233 broad.mit.edu 37 12 50236697 50236697 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:50236697G>A ENST00000333924.4 - 1 215 c.174C>T c.(172-174)ctC>ctT p.L58L NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 58 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 TCTCAGGAAAGAGCTGTCGAA 0.632000 12 86 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42907031 42907031 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:42907031C>G ENST00000244289.4 - 9 2971 c.2695G>C c.(2695-2697)Gag>Cag p.E899Q LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 899 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CTAAGTGTCTCAGCTGACAGC 0.577000 11 47 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47645105 47645105 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:47645105G>C ENST00000371917.4 + 37 4963 c.4963G>C c.(4963-4965)Gaa>Caa p.E1655Q NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1655 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) TCTAAAACAAGAAACCAGCAG 0.398000 16 63 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56487891 56487891 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:56487891G>C ENST00000267101.3 + 14 2062 c.1622G>C c.(1621-1623)cGa>cCa p.R541P ERBB3_ENST00000415288.2_Missense_Mutation_p.R482P|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 541 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGGGAGCCTCGAGAATTTGCC 0.567000 5 60 0 0 1 0 0 ARMC10 83787 broad.mit.edu 37 7 102738848 102738848 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:102738848G>C ENST00000323716.3 + 7 1272 c.880G>C c.(880-882)Gaa>Caa p.E294Q ARMC10_ENST00000454559.1_Missense_Mutation_p.E200Q|ARMC10_ENST00000425331.1_Missense_Mutation_p.E235Q|ARMC10_ENST00000428183.2_Missense_Mutation_p.E235Q|ARMC10_ENST00000441711.2_Missense_Mutation_p.E259Q|ARMC10_ENST00000541300.1_Missense_Mutation_p.E176Q NM_031905.4 NP_114111.2 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 294 regulation of growth endoplasmic reticulum membrane|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 CCTCAAAATAGAAGGCCATTT 0.393000 7 90 0 0 1 0 0 CLDN3 1365 broad.mit.edu 37 7 73184119 73184119 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:73184119G>A ENST00000395145.2 - 1 481 c.261C>T c.(259-261)atC>atT p.I87I NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 87 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) CGGCCAGCAGGATGGCCACCA 0.672000 13 20 0 0 1 0 0 MRPS5 64969 broad.mit.edu 37 2 95772194 95772194 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:95772194C>G ENST00000272418.2 - 6 854 c.646G>C c.(646-648)Gag>Cag p.E216Q NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 216 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TCAAAATCCTCATATGTTTCT 0.438000 8 51 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2744064 2744064 + Missense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:2744064G>T ENST00000510267.1 - 6 1316 c.889C>A c.(889-891)Cag>Aag p.Q297K TNIP2_ENST00000315423.7_Missense_Mutation_p.Q404K|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q321K NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 404 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGAGGGCACTGAAGGTCCCCC 0.677000 6 15 0.000157383 0.000160364 1 1 0 PCDH20 64881 broad.mit.edu 37 13 61987371 61987371 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:61987371C>G ENST00000409186.1 - 5 2966 c.861G>C c.(859-861)gtG>gtC p.V287V PCDH20_ENST00000409204.4_Silent_p.V287V Q8N6Y1 PCD20_HUMAN protocadherin 20 260 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGATGATGCTCACATACTGGT 0.517000 10 44 0 0 1 0 0 MRM1 79922 broad.mit.edu 37 17 34958243 34958243 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:34958243G>A ENST00000250156.7 + 1 243 c.4G>A c.(4-6)Gca>Aca p.A2T NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 2 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CTGCGCCATGGCATTGCTCTC 0.706000 7 36 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968496 69968496 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:69968496G>C ENST00000299293.2 + 10 1798 c.1288G>C c.(1288-1290)Gaa>Caa p.E430Q FRS2_ENST00000397997.2_Missense_Mutation_p.E430Q|FRS2_ENST00000550389.1_Missense_Mutation_p.E430Q|FRS2_ENST00000549921.1_Missense_Mutation_p.E430Q NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 430 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CCCAAGTTTAGAACACAGGCA 0.453000 6 37 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8587285 8587285 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:8587285C>T ENST00000338257.8 - 27 3463 c.3196G>A c.(3196-3198)Gag>Aag p.E1066K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 1066 SH3. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TCAATGACCTCGTTCACGTTG 0.627000 13 34 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11190601 11190601 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:11190601C>G ENST00000361445.4 - 39 5674 c.5598G>C c.(5596-5598)caG>caC p.Q1866H MTOR_ENST00000376838.1_Missense_Mutation_p.Q71H NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1866 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TGACCTTCTTCTGCAGCGGCG 0.572000 10 38 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117896444 117896444 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:117896444C>G ENST00000535237.1 - 4 775 c.546G>C c.(544-546)ttG>ttC p.L182F GOPC_ENST00000368498.2_Missense_Mutation_p.L182F|GOPC_ENST00000052569.6_Missense_Mutation_p.L174F golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TCTCTTTTCTCAACAATTTCA 0.378000 O ROS1 glioblastoma 14 55 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86278844 86278844 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:86278844G>A ENST00000394518.2 + 32 7590 c.7495G>A c.(7495-7497)Gat>Aat p.D2499N AKAP13_ENST00000361243.2_Missense_Mutation_p.D2503N|AKAP13_ENST00000394510.2_Missense_Mutation_p.D744N|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2499 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AACGGAATCAGATAGTGGCCT 0.358000 10 49 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67809586 67809586 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:67809586G>A ENST00000255674.6 - 19 2805 c.2519C>T c.(2518-2520)tCa>tTa p.S840L RTTN_ENST00000454359.1_Missense_Mutation_p.S840L|RTTN_ENST00000437017.1_Missense_Mutation_p.S840L NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 840 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AACATCATCTGAGGTGAAGAT 0.343000 3 33 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4718285 4718285 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:4718285C>T ENST00000399577.5 + 8 791 c.698C>T c.(697-699)tCt>tTt p.S233F MGRN1_ENST00000262370.7_Missense_Mutation_p.S233F|MGRN1_ENST00000586183.1_Missense_Mutation_p.S233F|MGRN1_ENST00000588994.1_Missense_Mutation_p.S233F|MGRN1_ENST00000415496.1_Missense_Mutation_p.S234F NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 233 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S233F(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 GGCAGCTTCTCTGTGAAGCCT 0.498000 19 46 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125369373 125369373 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:125369373G>A ENST00000275184.6 + 1 16 c.16G>A c.(16-18)Gag>Aag p.E6K RNF217_ENST00000521654.2_Intron|RNF217_ENST00000560949.1_Intron|RNF217_ENST00000359704.2_Intron|RNF217_ENST00000368414.2_Intron Q8TC41 RN217_HUMAN ring finger protein 217 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) ACCCTGTACTGAGACTAAGAT 0.393000 4 9 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111632326 111632326 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:111632326C>G ENST00000435970.1 - 31 9323 c.8507G>C c.(8506-8508)aGa>aCa p.R2836T RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.R2914T|REV3L_ENST00000368805.1_Missense_Mutation_p.R2914T|REV3L_ENST00000358835.3_Missense_Mutation_p.R2914T|REV3L_ENST00000462119.1_5'UTR O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2914 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAAACTTCCTCTGTATTCCTT 0.413000 DNA polymerases (catalytic subunits) 20 160 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33422418 33422418 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:33422418C>G ENST00000305768.5 - 9 1034 c.946G>C c.(946-948)Gat>Cat p.D316H CEP89_ENST00000590597.2_Missense_Mutation_p.D316H NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TTCAATCCATCATTTTCATCC 0.348000 17 36 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200958018 200958018 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:200958018C>T ENST00000332129.2 - 22 3490 c.3174G>A c.(3172-3174)ttG>ttA p.L1058L KIF21B_ENST00000422435.2_Silent_p.L1058L|KIF21B_ENST00000461742.2_Silent_p.L1058L|KIF21B_ENST00000360529.5_Silent_p.L1058L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1058 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GTCGGCCCTCCAACAGCCGGA 0.627000 5 21 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235920751 235920751 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:235920751C>T ENST00000389794.3 - 24 7063 c.6889G>A c.(6889-6891)Gaa>Aaa p.E2297K LYST_ENST00000389793.2_Missense_Mutation_p.E2297K Q99698 LYST_HUMAN lysosomal trafficking regulator 2297 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAACAGTCTTCAGTTACACTA 0.368000 9 58 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 322194 322194 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:322194G>A ENST00000390665.3 - 2 474 c.456C>T c.(454-456)ttC>ttT p.F152F NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 152 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGAACCGGGCGAAGGTGCTCT 0.642000 9 76 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39358842 39358842 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:39358842G>C ENST00000280481.7 + 6 6132 c.5916G>C c.(5914-5916)gaG>gaC p.E1972D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1972 Calx-beta 2. E -> K (in FRASS; may impair calcium- binding in the 2nd Calx-beta domain). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTTTGTACGAGGAGGAGGAAA 0.493000 14 41 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126144827 126144827 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:126144827G>C ENST00000373624.2 - 22 2115 c.1914C>G c.(1912-1914)ctC>ctG p.L638L DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.L649L|DENND1A_ENST00000542603.1_Silent_p.L423L NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 638 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CCAGGCTCCAGAGCTTGTTGT 0.667000 29 35 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665955 8665955 + Nonsense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:8665955C>A ENST00000270328.4 - 5 933 c.667G>T c.(667-669)Gaa>Taa p.E223* ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.E223* Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 223 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CGCTCTGTTTCATTCCCCAGG 0.617000 14 50 1.05317e-09 1.10021e-09 1 1 0 YEATS2 55689 broad.mit.edu 37 3 183515778 183515778 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:183515778C>G ENST00000305135.5 + 22 3360 c.3165C>G c.(3163-3165)ctC>ctG p.L1055L NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1055 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCAGCCAGCTCAAACCACTCA 0.527000 5 70 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74772611 74772611 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:74772611C>T ENST00000588460.1 + 12 3215 c.1173C>T c.(1171-1173)ttC>ttT p.F391F MFSD11_ENST00000586622.1_Silent_p.F391F|MFSD11_ENST00000593181.1_Silent_p.F339F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Silent_p.F391F|MFSD11_ENST00000590514.1_Silent_p.F391F|MFSD11_ENST00000355954.3_Silent_p.F339F NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 391 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TTGCCATCTTCAAGTTTGTTC 0.438000 63 120 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42303748 42303748 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:42303748G>A ENST00000379310.3 - 23 2636 c.2568C>T c.(2566-2568)gtC>gtT p.V856V VWA8_ENST00000281496.6_Silent_p.V856V NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 AAATACACGTGACATTTGTTG 0.338000 33 81 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131482819 131482819 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:131482819C>T ENST00000291906.4 + 22 2997 c.2604C>T c.(2602-2604)ctC>ctT p.L868L NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 868 AGC-kinase C-terminal. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 ACAGCCTCCTCACTGCCCGCC 0.657000 18 37 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79684042 79684042 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:79684042G>A ENST00000331531.5 + 7 594 c.474G>A c.(472-474)agG>agA p.R158R SLC25A10_ENST00000350690.5_Silent_p.R158R|SLC25A10_ENST00000545862.1_Silent_p.R115R|SLC25A10_ENST00000571730.1_Silent_p.R313R|SLC25A10_ENST00000541223.1_Silent_p.R313R NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 158 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) AGGGTCTCAGGAGACTGTTCT 0.647000 5 22 0 0 1 0 0 CTRL 1506 broad.mit.edu 37 16 67965093 67965093 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:67965093G>A ENST00000574481.1 - 2 625 c.64C>T c.(64-66)Cct>Tct p.P22S CTRL_ENST00000576408.1_Intron|CTC-479C5.12_ENST00000573493.1_Intron NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 22 digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TTGATGGCAGGAATGCCGCAG 0.612000 10 21 0 0 1 0 0 PIGM 93183 broad.mit.edu 37 1 160001330 160001330 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:160001330G>T ENST00000368090.2 - 1 453 c.200C>A c.(199-201)tCg>tAg p.S67* NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 67 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGGTAAGGCGAGCGCCCCTC 0.592000 23 37 1.10923e-09 1.15652e-09 1 1 0 TAOK1 57551 broad.mit.edu 37 17 27829628 27829628 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:27829628G>C ENST00000261716.3 + 13 1744 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q TAOK1_ENST00000536202.1_Missense_Mutation_p.E409Q NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 409 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TTACAGAGAAGAGGGAGATCC 0.353000 10 32 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982262 61982262 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:61982262G>A ENST00000370263.4 - 5 722 c.501C>T c.(499-501)ttC>ttT p.F167F CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 167 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGAAGGGGAAGAAGGTGACGT 0.607000 25 81 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143905 55143905 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:55143905C>G ENST00000491143.2 + 2 1497 c.1465C>G c.(1465-1467)Ctg>Gtg p.L489V NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 489 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GCAAGACGATCTGAGCACAGG 0.577000 10 22 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10070396 10070396 + Missense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:10070396G>T ENST00000287647.3 + 2 148 c.55G>T c.(55-57)Gat>Tat p.D19Y FANCD2_ENST00000431693.1_Missense_Mutation_p.D19Y|FANCD2_ENST00000383806.1_Missense_Mutation_p.D19Y|FANCD2_ENST00000419585.1_Missense_Mutation_p.D19Y|FANCD2_ENST00000383807.1_Missense_Mutation_p.D19Y NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 19 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CCTGACAGAAGATGCCTCCAG 0.383000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 52 0.335167 0.335167 1 1 0 FABP9 646480 broad.mit.edu 37 8 82370865 82370865 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:82370865C>G ENST00000379071.2 - 3 375 c.320G>C c.(319-321)aGa>aCa p.R107T RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 107 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) CACAATTTTTCTTTTGATTGT 0.308000 19 34 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589070 140589070 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:140589070C>G ENST00000239450.2 + 1 780 c.591C>G c.(589-591)gaC>gaG p.D197E PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 197 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGTTCTGGACAAGGCGCTGG 0.488000 32 25 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104816706 104816706 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:104816706C>T ENST00000369878.4 + 4 2246 c.2058C>T c.(2056-2058)ttC>ttT p.F686F CNNM2_ENST00000433628.2_Silent_p.F686F NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TAGACTACTTCGTTCTCATTC 0.438000 24 121 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212251832 212251832 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:212251832C>T ENST00000342788.4 - 27 3537 c.3227G>A c.(3226-3228)gGa>gAa p.G1076E ERBB4_ENST00000402597.1_Missense_Mutation_p.G1066E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G1060E NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1076 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 p.G1076E(1) 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) CACAGACACTCCTTGTTCAGC 0.443000 TSP Lung(8;0.080) 12 59 0 0 1 0 0 CCL8 6355 broad.mit.edu 37 17 32647328 32647328 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:32647328C>T ENST00000394620.1 + 2 583 c.117C>T c.(115-117)atC>atT p.I39I NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 39 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TTAACGTGATCAATAGGAAAA 0.438000 15 40 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75290072 75290072 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:75290072G>A ENST00000339859.4 - 13 1757 c.1657C>T c.(1657-1659)Cgt>Tgt p.R553C USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R553C|USP54_ENST00000428547.1_Missense_Mutation_p.R403C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.R553C Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 553 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) TCCCAGTCACGAGAGTGTAAA 0.502000 26 76 0 0 1 0 0 PTK6 5753 broad.mit.edu 37 20 62162198 62162198 + Silent SNP C C T rs145525201 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:62162198C>T ENST00000217185.2 - 6 942 c.915G>A c.(913-915)tcG>tcA p.S305S PTK6_ENST00000542869.1_Silent_p.S204S NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 305 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) TGTAATTCTGCGACTCCAGGT 0.587000 7 38 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010559 59010559 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:59010559C>T ENST00000263093.2 - 8 1805 c.1696G>A c.(1696-1698)Gag>Aag p.E566K SLC27A5_ENST00000601355.1_Missense_Mutation_p.E482K|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000599700.1_5'UTR NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 566 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CCCTCCACCTCGTGCGTGGAC 0.632000 9 30 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112341725 112341725 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:112341725G>C ENST00000361804.4 + 9 718 c.592G>C c.(592-594)Gag>Cag p.E198Q SMC3_ENST00000462899.1_3'UTR NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 198 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATACATTGAAGAGAGATTACA 0.353000 38 80 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112443383 112443383 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:112443383G>C ENST00000230538.7 - 32 4706 c.4309C>G c.(4309-4311)Cct>Gct p.P1437A LAMA4_ENST00000424408.2_Missense_Mutation_p.P1430A|LAMA4_ENST00000389463.4_Missense_Mutation_p.P1430A|LAMA4_ENST00000522006.1_Missense_Mutation_p.P1430A NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1437 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCCCATGAAGGTGCATCTTTA 0.413000 18 48 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74422024 74422024 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:74422024G>A ENST00000376332.3 - 4 798 c.302C>T c.(301-303)cCc>cTc p.P101L CHRDL2_ENST00000263671.5_Missense_Mutation_p.P101L|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 101 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) GAGTCCAGAGGGAGTGTGAGG 0.537000 3 31 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150235593 150235593 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:150235593G>T ENST00000369111.4 + 7 1685 c.715G>T c.(715-717)Gaa>Taa p.E239* NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 239 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 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) GATTTCAATGGAACAGGTAAG 0.522000 20 89 1.01871e-10 1.06836e-10 1 1 0 NFIC 4782 broad.mit.edu 37 19 3452638 3452638 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:3452638G>A ENST00000589123.1 + 8 1336 c.1216G>A c.(1216-1218)Gac>Aac p.D406N NFIC_ENST00000443272.2_Missense_Mutation_p.D415N|NFIC_ENST00000346156.5_Missense_Mutation_p.D382N|NFIC_ENST00000395111.3_Missense_Mutation_p.D406N|NFIC_ENST00000590282.1_Missense_Mutation_p.D415N|NFIC_ENST00000341919.3_Missense_Mutation_p.D415N|NFIC_ENST00000586919.1_Missense_Mutation_p.D382N NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 415 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GCTGGCCTGCGACCCAGCCAG 0.682000 21 150 0 0 1 0 0 TMEM39B 55116 broad.mit.edu 37 1 32560490 32560490 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:32560490G>A ENST00000427288.1 + 8 1168 c.688G>A c.(688-690)Gac>Aac p.D230N TMEM39B_ENST00000373634.4_Missense_Mutation_p.D146N|TMEM39B_ENST00000336294.5_Missense_Mutation_p.D345N|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_3'UTR Q9GZU3 TM39B_HUMAN transmembrane protein 39B 345 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAGCTACTGTGACCTGCTGCA 0.607000 11 45 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73142264 73142264 + Silent SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:73142264T>C ENST00000545377.1 + 12 1775 c.1599T>C c.(1597-1599)gcT>gcC p.A533A ARHGEF28_ENST00000437974.1_Silent_p.A533A|ARHGEF28_ENST00000296799.4_Silent_p.A220A|ARHGEF28_ENST00000426542.2_Silent_p.A533A|ARHGEF28_ENST00000513042.2_Silent_p.A533A|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296794.6_Silent_p.A533A|ARHGEF28_ENST00000287898.5_Silent_p.A533A NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 TCTCCAGGGCTGAATCCCTTC 0.418000 4 42 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25969102 25969102 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:25969102C>T ENST00000356865.6 - 6 1157 c.1046G>A c.(1045-1047)gGa>gAa p.G349E NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 349 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TAAGGAGCTTCCATCAGACTT 0.373000 26 57 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 6 53 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52553378 52553378 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:52553378C>T ENST00000321725.6 + 49 5209 c.5133C>T c.(5131-5133)ccC>ccT p.P1711P NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1711 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) TGCTGCCCCCCGAGGCGCTGC 0.637000 24 132 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2328306 2328306 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:2328306G>A ENST00000301732.5 - 30 5401 c.4701C>T c.(4699-4701)atC>atT p.I1567I ABCA3_ENST00000382381.3_Silent_p.I1509I NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1567 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGGTGATGATGATGGCCTTGC 0.642000 23 41 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871618 149871618 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:149871618G>A ENST00000369153.2 + 3 670 c.6G>A c.(4-6)ctG>ctA p.L2L BOLA1_ENST00000369152.5_Silent_p.L2L|BOLA1_ENST00000369150.1_Silent_p.L2L|BOLA1_ENST00000476344.1_Intron Q9Y3E2 BOLA1_HUMAN bolA family member 1 2 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AGCCCATGCTGAGTGGGCGGC 0.687000 9 45 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11533470 11533470 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:11533470C>G ENST00000356392.4 - 9 1263 c.1176G>C c.(1174-1176)aaG>aaC p.K392N CCDC151_ENST00000591179.1_Missense_Mutation_p.K332N|CCDC151_ENST00000586836.1_Missense_Mutation_p.K201N|CCDC151_ENST00000545100.1_Missense_Mutation_p.K338N NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 392 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CGTTCTCGCTCTTGAGCGTCT 0.647000 5 31 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18259470 18259470 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:18259470G>C ENST00000251900.4 - 15 2163 c.2004C>G c.(2002-2004)ctC>ctG p.L668L SCML2_ENST00000398048.3_3'UTR NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 668 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CATCACTCTTGAGTAGGAACA 0.343000 17 54 0 0 1 0 0 ZNF774 342132 broad.mit.edu 37 15 90903739 90903739 + Nonsense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:90903739C>T ENST00000354377.3 + 4 862 c.676C>T c.(676-678)Cag>Tag p.Q226* ZNF774_ENST00000379090.5_Intron NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CATCAAACATCAGAGAACCCA 0.517000 11 55 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96116562 96116562 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:96116562C>T ENST00000278520.5 - 4 1290 c.862G>A c.(862-864)Gaa>Aaa p.E288K CCDC82_ENST00000423339.2_Missense_Mutation_p.E288K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E288K Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 288 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) tctccatcttcatcagattca 0.348000 17 18 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30878929 30878929 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:30878929G>C ENST00000251071.5 - 9 2626 c.1876C>G c.(1876-1878)Cag>Gag p.Q626E CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q293E|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Q626E|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q626E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q626E NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 626 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCTTGAATCTGAGTCATCAGA 0.398000 33 51 0 0 1 0 0 METTL24 728464 broad.mit.edu 37 6 110567253 110567253 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:110567253G>A ENST00000338882.4 - 5 996 c.997C>T c.(997-999)Cac>Tac p.H333Y CDC40_ENST00000368930.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 333 extracellular region TTGTAACTGTGAAAAAGCCTG 0.428000 12 83 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113354534 113354534 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:113354534C>T ENST00000452357.2 + 4 1065 c.875C>T c.(874-876)aCg>aTg p.T292M OAS1_ENST00000445409.2_Missense_Mutation_p.T292M|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.T292M|OAS1_ENST00000202917.5_Missense_Mutation_p.T292M NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 292 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 AGGCAGCTCACGAAACCCAGG 0.448000 15 49 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20552067 20552067 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:20552067G>A ENST00000329697.6 - 13 1706 c.1538C>T c.(1537-1539)tCg>tTg p.S513L ACSM2B_ENST00000565322.1_Missense_Mutation_p.S434L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S513L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S513L NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 513 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.S513L(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TAGGAACTGCGAGGCCAGGAT 0.478000 4 144 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67266470 67266470 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:67266470G>A ENST00000356404.3 - 9 1399 c.1174C>T c.(1174-1176)Cct>Tct p.P392S PITPNM1_ENST00000534749.1_Missense_Mutation_p.P392S|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P392S NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 392 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 TCGGCTCCAGGCTCTGCAGGG 0.622000 8 33 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143324151 143324151 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:143324151G>C ENST00000513000.1 - 8 745 c.312C>G c.(310-312)atC>atG p.I104M INPP4B_ENST00000308502.4_Missense_Mutation_p.I104M|INPP4B_ENST00000506217.1_Missense_Mutation_p.I104M|INPP4B_ENST00000509777.1_Missense_Mutation_p.I104M|INPP4B_ENST00000508116.1_Missense_Mutation_p.I104M|INPP4B_ENST00000262992.4_Missense_Mutation_p.I104M NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 104 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TCTCCTCATAGATGGGATACT 0.403000 15 61 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99038473 99038473 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:99038473C>G ENST00000299157.4 - 1 380 c.7G>C c.(7-9)Gag>Cag p.E3Q IKBIP_ENST00000420861.1_5'UTR|IKBIP_ENST00000342502.2_Missense_Mutation_p.E3Q|IKBIP_ENST00000393042.3_Missense_Mutation_p.E3Q NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 3 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 CTCTTCACCTCAGACATGTCT 0.697000 6 19 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30034044 30034044 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:30034044G>C ENST00000328224.6 - 2 1415 c.182C>G c.(181-183)tCc>tGc p.S61C NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 61 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.S61F(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GTGGTGGTGGGAGCCCCCACC 0.662000 29 32 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2308867 2308867 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:2308867C>T ENST00000381458.5 + 9 1252 c.1189C>T c.(1189-1191)Cgc>Tgc p.R397C NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 397 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.R397S(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) TAATGCCGACCGCATCACCTG 0.562000 6 69 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63217961 63217961 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:63217961G>C ENST00000263991.5 + 18 3414 c.2932G>C c.(2932-2934)Gag>Cag p.E978Q EHBP1_ENST00000354487.3_Missense_Mutation_p.E943Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.E943Q|EHBP1_ENST00000431489.1_Missense_Mutation_p.E907Q|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.E907Q NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 978 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TGAGAGCTCAGAGCAGGACAT 0.418000 9 55 0 0 1 0 0 BSG 682 broad.mit.edu 37 19 571558 571558 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:571558C>G ENST00000346916.4 + 1 262 c.11C>G c.(10-12)tCg>tGg p.S4W AC009005.2_ENST00000588908.1_RNA|AC009005.2_ENST00000589457.1_RNA|BSG_ENST00000545507.2_5'UTR|AC009005.2_ENST00000590292.1_RNA|AC009005.2_ENST00000588290.1_RNA NM_198591.2 NP_940993.1 P35613 BASI_HUMAN basigin 180 blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) atgaagcagtcggacgcgtct 0.602000 11 36 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785590 1785590 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:1785590G>A ENST00000539485.1 - 26 3534 c.3301C>T c.(3301-3303)Ctg>Ttg p.L1101L ATP8B3_ENST00000310127.6_Silent_p.L1091L|ATP8B3_ENST00000525591.1_Silent_p.L1054L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1091 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGTTGACCAGAGAGGTGGTC 0.612000 17 34 0 0 1 0 0 ZBTB48 3104 broad.mit.edu 37 1 6648248 6648248 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:6648248G>C ENST00000377674.4 + 8 1666 c.1508G>C c.(1507-1509)cGa>cCa p.R503P NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 503 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) AAGACCTTCCGAACCCAAGGT 0.632000 6 31 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874290 31874290 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:31874290C>T ENST00000334151.2 - 1 145 c.119G>A c.(118-120)gGc>gAc p.G40D NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 40 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 GCCTCCGTAGCCACCGCCATA 0.567000 18 136 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555578 155555578 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:155555578C>T ENST00000295101.2 + 1 768 c.291C>T c.(289-291)ttC>ttT p.F97F KCNJ3_ENST00000544049.1_Silent_p.F97F NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 97 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CCTGGCTTTTCATGGCGTCCA 0.572000 14 48 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9091998 9091998 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:9091998C>G ENST00000433083.2 + 14 2968 c.2823C>G c.(2821-2823)atC>atG p.I941M PHC1_ENST00000544916.1_Missense_Mutation_p.I986M|PHC1_ENST00000543824.1_Missense_Mutation_p.I986M|PHC1_ENST00000536844.1_Missense_Mutation_p.I592M P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 986 SAM. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CCATGAACATCAAGCTGGGCC 0.488000 11 35 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33137446 33137446 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:33137446C>G ENST00000306065.4 - 4 447 c.289G>C c.(289-291)Gaa>Caa p.E97Q ANKRD27_ENST00000587352.1_Missense_Mutation_p.E97Q NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 97 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) AAAGTTTCTTCAAAGAGAATG 0.408000 25 44 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141551359 141551359 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:141551359G>A ENST00000220592.5 - 15 2050 c.1938C>T c.(1936-1938)gtC>gtT p.V646V AGO2_ENST00000519980.1_Silent_p.V646V NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GGAGCTCGCGGACCATGGCGG 0.632000 3 11 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38695943 38695943 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:38695943C>T ENST00000396832.1 - 6 953 c.693G>A c.(691-693)aaG>aaA p.K231K CSNK1E_ENST00000359867.3_Silent_p.K231K|CSNK1E_ENST00000405675.3_Silent_p.K231K|CSNK1E_ENST00000403904.1_Silent_p.K231K|CSNK1E_ENST00000413574.2_Silent_p.K231K|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Silent_p.K231K NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 231 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) TTGACATCTTCTTCTCGCTGA 0.607000 27 111 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361368 105361368 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:105361368C>T ENST00000297581.2 + 2 637 c.588C>T c.(586-588)gtC>gtT p.V196V DCSTAMP_ENST00000517991.1_Silent_p.V196V|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 196 osteoclast differentiation cell surface|integral to membrane|plasma membrane TCCTGAGCGTCTTGTACCAGA 0.547000 38 91 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68736324 68736324 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:68736324G>C ENST00000325631.5 + 6 1625 c.1551G>C c.(1549-1551)aaG>aaC p.K517N MARVELD2_ENST00000413223.2_Missense_Mutation_p.K401N NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 517 Poly-Lys. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AGAAAAAAAAGAATGTGAGTA 0.264000 24 25 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186643848 186643848 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:186643848G>C ENST00000367468.5 - 10 1588 c.1452C>G c.(1450-1452)atC>atG p.I484M PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 484 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) CCACAGCATCGATGTCACCAT 0.458000 345 70 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151874176 151874176 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:151874176G>A ENST00000355193.2 - 38 8580 c.8362C>T c.(8362-8364)Cag>Tag p.Q2788* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2788* lysine (K)-specific methyltransferase 2C GATACACACTGATTATCTAAC 0.338000 33 65 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19930021 19930021 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:19930021G>A ENST00000295824.9 - 10 2009 c.1848C>T c.(1846-1848)ttC>ttT p.F616F EFHB_ENST00000344838.4_Silent_p.F486F NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 616 EF-hand 2. signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 GATAGTTAATGAAGCCATCAT 0.378000 5 10 0 0 1 0 0 TMEFF1 8577 broad.mit.edu 37 9 103279025 103279025 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:103279025G>A ENST00000374879.4 + 5 964 c.532G>A c.(532-534)Gag>Aag p.E178K MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.*141*|TMEFF1_ENST00000334943.6_Missense_Mutation_p.E139K NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) ATATAAAGCTGAGTGTGATGA 0.383000 18 26 0 0 1 0 0 CCT6A 908 broad.mit.edu 37 7 56125778 56125778 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:56125778C>T ENST00000275603.4 + 6 926 c.707C>T c.(706-708)tCa>tTa p.S236L CCT6A_ENST00000335503.3_Missense_Mutation_p.S191L|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205L NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 236 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGTAACGTGTCATTAGAGTAT 0.408000 10 36 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242496 4242496 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:4242496G>A ENST00000399609.3 - 6 1092 c.1080C>T c.(1078-1080)ttC>ttT p.F360F SRL_ENST00000537996.1_Silent_p.F318F NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 819 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CATCACTGAAGAAGGTCATTT 0.488000 32 96 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123008685 123008685 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:123008685G>C ENST00000462833.1 - 19 4656 c.3444C>G c.(3442-3444)atC>atG p.I1148M ADCY5_ENST00000309879.5_Missense_Mutation_p.I798M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I806M NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1148 Guanylate cyclase 2. activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCAGTGCCTTGATGTGGGTCT 0.552000 63 70 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67293582 67293582 + Silent SNP G G A rs151194061 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:67293582G>A ENST00000371026.3 - 14 2080 c.2025C>T c.(2023-2025)atC>atT p.I675I WDR78_ENST00000431318.1_Intron|RP11-342H21.2_ENST00000456389.1_RNA NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 675 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CAGCCAAATAGATATTTGTGT 0.308000 39 151 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43445631 43445631 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:43445631C>G ENST00000282041.5 - 39 6749 c.6715G>C c.(6715-6717)Gaa>Caa p.E2239Q EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2239 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATTTCCTGTTCTAGGACTGCT 0.438000 38 83 0 0 1 0 0 MVB12B 89853 broad.mit.edu 37 9 129148844 129148844 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:129148844C>T ENST00000361171.3 + 4 397 c.316C>T c.(316-318)Cat>Tat p.H106Y MVB12B_ENST00000545391.1_Missense_Mutation_p.H106Y|MVB12B_ENST00000535766.1_Missense_Mutation_p.H99Y|MVB12B_ENST00000436593.3_Missense_Mutation_p.H91Y NM_033446.2 NP_258257.1 multivesicular body subunit 12B TCCCAAGAGTCATCTGGGGAA 0.443000 27 15 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769250 31769250 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:31769250C>G ENST00000240587.4 - 2 1776 c.1449G>C c.(1447-1449)gaG>gaC p.E483D NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 483 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GCTTAGGTTTCTCGTCAGTGA 0.478000 64 219 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 77 0 0 1 0 0 IGFBP3 3486 broad.mit.edu 37 7 45956914 45956914 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:45956914C>G ENST00000275521.6 - 2 661 c.528G>C c.(526-528)aaG>aaC p.K176N IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.K182N|IGFBP3_ENST00000381086.5_Missense_Mutation_p.K79N NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 176 negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) CATGCCCTTTCTTGATGATGA 0.552000 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 87 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16250072 16250072 + Nonsense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:16250072C>A ENST00000339732.5 + 4 1477 c.974C>A c.(973-975)tCa>tAa p.S325* GALNT15_ENST00000437509.1_Nonsense_Mutation_p.S325* NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TATTACCCCTCAAAGGACCTG 0.522000 45 83 6.1207e-33 6.54659e-33 1 1 0 DNAJC13 23317 broad.mit.edu 37 3 132166763 132166763 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:132166763G>A ENST00000260818.6 + 5 564 c.316G>A c.(316-318)Gag>Aag p.E106K DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 106 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGATTTTTCAGAGGGAAAAAT 0.318000 20 114 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170592181 170592181 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:170592181C>G ENST00000392647.2 + 2 901 c.657C>G c.(655-657)ctC>ctG p.L219L KLHL23_ENST00000272797.4_Silent_p.L219L|KLHL23_ENST00000602521.1_Intron NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 219 BACK. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 TTGAATGCCTCTATAATCTAC 0.383000 16 33 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41362667 41362667 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:41362667C>T ENST00000361937.3 - 13 2108 c.1684G>A c.(1684-1686)Gag>Aag p.E562K INO80_ENST00000401393.3_Missense_Mutation_p.E562K Q9ULG1 INO80_HUMAN INO80 complex subunit 562 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CTACCCACCTCAGCCAGATGG 0.408000 13 50 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239025622 239025622 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:239025622G>A ENST00000343063.3 + 5 1197 c.934G>A c.(934-936)Gag>Aag p.E312K ESPNL_ENST00000409169.1_Intron NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 312 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGACCTGGCGGAGTACCATGG 0.677000 4 17 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72700197 72700197 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:72700197G>C ENST00000341689.3 + 5 839 c.785G>C c.(784-786)aGa>aCa p.R262T TMEM202_ENST00000567679.1_3'UTR NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 262 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CTAAGTGTGAGAGAGAAAAAT 0.458000 9 52 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56488222 56488222 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:56488222G>C ENST00000267101.3 + 15 2181 c.1741G>C c.(1741-1743)Gat>Cat p.D581H ERBB3_ENST00000415288.2_Missense_Mutation_p.D522H|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 581 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCATTTTCGAGATGGGCCCCA 0.532000 19 67 0 0 1 0 0 MAB21L2 10586 broad.mit.edu 37 4 151505122 151505122 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:151505122G>A ENST00000317605.4 + 1 2046 c.941G>A c.(940-942)cGc>cAc p.R314H LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 314 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CTGCAGTGCCGCCGCTGCCCT 0.642000 11 27 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160086612 160086612 + Nonsense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:160086612C>T ENST00000263635.6 + 27 4912 c.4675C>T c.(4675-4677)Cag>Tag p.Q1559* TANC1_ENST00000454300.1_Nonsense_Mutation_p.Q1453* NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1559 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GATCTCTTCTCAGAACCCTCC 0.557000 9 69 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122552163 122552163 + Splice_Site SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:122552163G>C ENST00000261038.5 + 4 1101 c.e4-1 NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) TTTTCTTTCAGAATTTGGAGT 0.418000 95 150 0 0 1 0 0 POGK 57645 broad.mit.edu 37 1 166818872 166818872 + Silent SNP G G A rs143821995 byFrequency TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:166818872G>A ENST00000367875.1 + 5 1416 c.1056G>A c.(1054-1056)gcG>gcA p.A352A POGK_ENST00000537173.1_Silent_p.A234A|POGK_ENST00000536514.1_Silent_p.A267A|POGK_ENST00000367876.4_Silent_p.A352A Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 352 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 TGCGCAGGGCGCATGACTATG 0.557000 4 250 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57719746 57719746 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:57719746C>G ENST00000333493.4 + 11 1609 c.1448C>G c.(1447-1449)tCg>tGg p.S483W RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.S363W|GPR97_ENST00000327655.6_Missense_Mutation_p.S273W NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 483 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTGGGCCTCTCGAGCCTGGTG 0.607000 18 46 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136708386 136708386 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:136708386G>C ENST00000329582.4 + 4 759 c.510G>C c.(508-510)tgG>tgC p.W170C IL20RB_ENST00000309741.5_Missense_Mutation_p.W123C NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 170 Fibronectin type-III 2. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGGCCTACTGGAGGAGGGAGC 0.582000 24 42 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122768973 122768973 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:122768973G>A ENST00000194130.2 - 10 1098 c.1059C>T c.(1057-1059)ctC>ctT p.L353L SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 353 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TTATAATGAAGAGGACCAAGG 0.408000 7 33 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58519788 58519788 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:58519788G>C ENST00000302819.5 - 4 699 c.408C>G c.(406-408)gcC>gcG p.A136A ACOX2_ENST00000459701.2_Silent_p.A136A NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 136 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GGTCCCATTTGGCAATCTGCT 0.527000 38 113 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412801 43412801 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43412801C>T ENST00000310826.5 - 3 1587 c.1404G>A c.(1402-1404)ctG>ctA p.L468L ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.L468L|ZBTB21_ENST00000398511.3_Silent_p.L468L|ZBTB21_ENST00000398505.3_Silent_p.L468L NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CTTCTGTTTTCAGAGACAGGT 0.527000 20 80 0 0 1 0 0 SRM 6723 broad.mit.edu 37 1 11115981 11115981 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:11115981C>G ENST00000376957.2 - 6 702 c.622G>C c.(622-624)Gag>Cag p.E208Q NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 208 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) CACTGGCACTCGCCTGGGGGC 0.682000 8 7 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81372765 81372765 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:81372765C>T ENST00000222390.5 - 7 995 c.769G>A c.(769-771)Gat>Aat p.D257N HGF_ENST00000444829.2_Missense_Mutation_p.D257N|HGF_ENST00000453411.1_Missense_Mutation_p.D252N|HGF_ENST00000457544.2_Missense_Mutation_p.D252N NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 257 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CAATAATTATCATCAAAGCCC 0.488000 12 33 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968430 69968430 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:69968430G>C ENST00000299293.2 + 10 1732 c.1222G>C c.(1222-1224)Gaa>Caa p.E408Q FRS2_ENST00000397997.2_Missense_Mutation_p.E408Q|FRS2_ENST00000550389.1_Missense_Mutation_p.E408Q|FRS2_ENST00000549921.1_Missense_Mutation_p.E408Q NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 408 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity p.E408Q(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCACAAAATAGAATATTCAAG 0.388000 10 38 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400847 49400847 + Nonsense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:49400847G>C ENST00000374201.3 - 16 2347 c.2045C>G c.(2044-2046)tCa>tGa p.S682* FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.S657*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.S650* NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 682 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CTCGTTTTCTGAGCATGACAA 0.493000 24 73 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:7576855G>A ENST00000420246.2 - 9 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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) CTTAGTACCTGAAGGGTGAAA 0.448000 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) 18 27 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99697331 99697331 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:99697331C>G ENST00000303887.5 - 3 802 c.157G>C c.(157-159)Gac>Cac p.D53H MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D53H NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 53 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCTACGTCGTCCAGGTCCACA 0.562000 33 76 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102763275 102763275 + Silent SNP G G A rs151215972 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:102763275G>A ENST00000370220.1 + 2 3483 c.420G>A c.(418-420)aaG>aaA p.K140K LZTS2_ENST00000370223.3_Silent_p.K140K Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 140 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) ACATGGAGAAGATCCTGATCC 0.602000 33 86 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118984802 118984802 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:118984802C>G ENST00000336702.3 + 13 1998 c.1639C>G c.(1639-1641)Cag>Gag p.Q547E C2CD2L_ENST00000528586.1_Missense_Mutation_p.Q294E NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 546 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GCCCATTGCTCAGGACGAGTT 0.622000 56 62 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662285 227662285 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:227662285G>A ENST00000305123.5 - 1 2190 c.1170C>T c.(1168-1170)gtC>gtT p.V390V NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity p.V390V(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ACGACAGACTGACCGGGCTGG 0.682000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57281431 57281431 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:57281431C>G ENST00000288266.3 + 9 777 c.630C>G c.(628-630)ttC>ttG p.F210L NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 210 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) AGATAAGTTTCTTTAAGATGG 0.308000 14 59 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179648835 179648835 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:179648835C>T ENST00000589042.1 - 16 2961 c.2737G>A c.(2737-2739)Gaa>Aaa p.E913K TTN_ENST00000591111.1_Missense_Mutation_p.E913K|TTN_ENST00000360870.5_Missense_Mutation_p.E913K|TTN_ENST00000359218.5_Missense_Mutation_p.E867K|TTN_ENST00000460472.2_Missense_Mutation_p.E867K|TTN_ENST00000342175.6_Missense_Mutation_p.E867K|TTN_ENST00000342992.6_Missense_Mutation_p.E913K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 913 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGCGCTCTTCACGGACGGTG 0.552000 33 48 0 0 1 0 0 KCNK3 3777 broad.mit.edu 37 2 26950605 26950605 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:26950605C>T ENST00000302909.3 + 2 479 c.354C>T c.(352-354)atC>atT p.I118I NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 118 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGGGCATCCCGCTCACGC 0.642000 42 64 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29391520 29391520 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:29391520C>T ENST00000343067.4 + 16 2161 c.2034C>T c.(2032-2034)atC>atT p.I678I EPB41_ENST00000373798.1_Silent_p.I678I|EPB41_ENST00000398863.2_Silent_p.I624I|EPB41_ENST00000373800.3_Silent_p.I436I|EPB41_ENST00000347529.3_Silent_p.I589I|EPB41_ENST00000349460.4_Silent_p.I455I|EPB41_ENST00000373797.1_Silent_p.I664I|EPB41_ENST00000356093.2_Silent_p.I645I NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 678 Spectrin--actin-binding. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAGAGGAGATCAAAAAACATC 0.423000 19 35 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117870633 117870633 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:117870633C>T ENST00000297338.2 - 5 726 c.439G>A c.(439-441)Gaa>Aaa p.E147K RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 147 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CCAACTTCTTCTCTCATGGTT 0.323000 19 60 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205033502 205033502 + Silent SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:205033502C>A ENST00000331830.4 + 11 1577 c.1293C>A c.(1291-1293)gcC>gcA p.A431A NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 431 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCCCCGCGGCCCGCGGGGGAG 0.607000 59 132 1.95512e-22 2.08701e-22 1 1 0 USP33 23032 broad.mit.edu 37 1 78204948 78204948 + Splice_Site SNP A A G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:78204948A>G ENST00000370793.1 - 6 791 c.e6+1 USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370792.3_Splice_Site|USP33_ENST00000370794.3_Splice_Site NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 CTAGATTATTACCTGGACACT 0.363000 23 77 0 0 1 0 0 SPAG1 6674 broad.mit.edu 37 8 101252921 101252921 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:101252921G>A ENST00000388798.2 + 18 2762 c.2571G>A c.(2569-2571)ctG>ctA p.L857L SPAG1_ENST00000251809.3_Silent_p.L857L NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 857 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TTCAGTCTCTGAAAAATAATC 0.358000 7 56 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). 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 ggaatggaatcgaatcgaatc 0.373000 2 2 0 0 1 0 0 MBNL2 10150 broad.mit.edu 37 13 97999220 97999220 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:97999220C>T ENST00000345429.6 + 5 1484 c.703C>T c.(703-705)Cac>Tac p.H235Y MBNL2_ENST00000397601.1_Missense_Mutation_p.H235Y|MBNL2_ENST00000376673.3_Missense_Mutation_p.H235Y|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.H235Y NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 235 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) CAAATATTTTCACCCTCCTGC 0.562000 19 52 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204423823 204423823 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:204423823G>A ENST00000367187.3 - 13 2596 c.2040C>T c.(2038-2040)ctC>ctT p.L680L PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Silent_p.L680L NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 680 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGAGGTGGAAGAGGTACTTGG 0.582000 48 90 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665875 8665875 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:8665875C>T ENST00000270328.4 - 5 1013 c.747G>A c.(745-747)aaG>aaA p.K249K ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.K249K Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 249 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCACCATCATCTTGTCAGCCA 0.627000 18 70 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102555640 102555640 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:102555640C>T ENST00000251808.3 + 2 530 c.192C>T c.(190-192)ctC>ctT p.L64L GRHL2_ENST00000395927.1_Silent_p.L48L NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 64 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CTGCTGCCCTCGGCCTGCTCT 0.527000 19 49 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38753798 38753798 + Missense_Mutation SNP C C T rs147640811 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:38753798C>T ENST00000449082.2 - 22 3942 c.3943G>A c.(3943-3945)Gat>Aat p.D1315N NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1315 sensory perception voltage-gated sodium channel complex p.D1315N(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AACTCTCCATCGGTATAGTTG 0.463000 23 116 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169772311 169772311 + Splice_Site SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:169772311C>G ENST00000286031.6 + 5 873 c.173C>G c.(172-174)aCa>aGa p.T58R C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Splice_Site_p.T29R|C1orf112_ENST00000456684.1_Splice_Site_p.T116R|C1orf112_ENST00000359326.4_Splice_Site_p.T58R NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 58 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TATTCACAGACAATGGTGCAG 0.403000 8 24 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72396861 72396861 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:72396861C>G ENST00000434423.2 + 2 706 c.706C>G c.(706-708)Cag>Gag p.Q236E POM121_ENST00000257622.4_5'UTR|POM121_ENST00000358357.3_5'UTR|POM121_ENST00000395270.1_5'UTR|POM121_ENST00000446813.1_5'UTR Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 236 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TCCGATCCATCAGGCCCAGTA 0.502000 3 21 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 53254300 53254300 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:53254300C>G ENST00000354452.3 - 2 659 c.48G>C c.(46-48)ctG>ctC p.L16L TCF4_ENST00000566279.1_Silent_p.L16L|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000564403.2_Silent_p.L16L|TCF4_ENST00000565018.2_Silent_p.L16L|TCF4_ENST00000356073.4_Silent_p.L16L|TCF4_ENST00000564999.1_Silent_p.L16L|TCF4_ENST00000567880.1_Silent_p.L16L|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000398339.1_Silent_p.L118L NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 16 Essential for MYOD1 inhibition (By similarity). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GTAAATCACTCAGCTCTTTGT 0.403000 7 40 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74516507 74516507 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr14:74516507C>G ENST00000394009.3 + 8 1018 c.895C>G c.(895-897)Ctg>Gtg p.L299V CCDC176_ENST00000553773.1_Missense_Mutation_p.L24V|AC005484.5_ENST00000492026.1_RNA NM_025057.2 NP_079333.2 coiled-coil domain containing 176 GGAGACTGCTCTGAGTTACAT 0.408000 12 26 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001997 27001997 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:27001997C>T ENST00000314616.6 + 5 638 c.355C>T c.(355-357)Cgg>Tgg p.R119W SUPT6H_ENST00000347486.4_Missense_Mutation_p.R119W NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 119 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GCAAAAGTACCGGCGTGTCAA 0.478000 11 22 0 0 1 0 0 SPRTN 83932 broad.mit.edu 37 1 231489045 231489045 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:231489045G>A ENST00000295050.7 + 5 1744 c.1408G>A c.(1408-1410)Gag>Aag p.E470K NM_001010984.2|NM_032018.5 NP_001010984.1|NP_114407.3 SprT-like N-terminal domain TCAGATTAATGAGCACTTGGA 0.413000 9 46 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50217863 50217863 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:50217863G>C ENST00000216267.8 - 1 589 c.103C>G c.(103-105)Caa>Gaa p.Q35E BRD1_ENST00000404760.1_Missense_Mutation_p.Q35E|BRD1_ENST00000404034.1_Missense_Mutation_p.Q35E|BRD1_ENST00000457780.2_Missense_Mutation_p.Q35E NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 35 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTTTGAGCTTGAGCGTAGGTC 0.502000 43 86 0 0 1 0 0 KIAA0020 9933 broad.mit.edu 37 9 2837277 2837277 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:2837277C>G ENST00000397885.2 - 3 413 c.207G>C c.(205-207)aaG>aaC p.K69N NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 69 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) GCTGCTTATTCTTGAACTGCT 0.398000 136 104 0 0 1 0 0 GHITM 27069 broad.mit.edu 37 10 85903753 85903753 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:85903753G>A ENST00000372134.3 + 4 425 c.232G>A c.(232-234)Gat>Aat p.D78N NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 78 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TTCTGCAGTTGATCAGATGGG 0.418000 9 61 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47694615 47694615 + Nonsense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:47694615C>G ENST00000455779.1 + 23 2245 c.2060C>G c.(2059-2061)tCa>tGa p.S687* PHKB_ENST00000566044.1_Nonsense_Mutation_p.S687*|PHKB_ENST00000323584.5_Nonsense_Mutation_p.S694*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.S694* Q93100 KPBB_HUMAN phosphorylase kinase, beta 694 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CCCAAACATTCAAAAGTCAAA 0.398000 36 82 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45811300 45811300 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:45811300C>T ENST00000397928.1 + 11 2031 c.1586C>T c.(1585-1587)tCc>tTc p.S529F TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.S529F|TRPM2_ENST00000300481.9_Missense_Mutation_p.S529F|TRPM2_ENST00000397932.2_Missense_Mutation_p.S529F NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 529 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTGGACCCCTCCTGCCTGTTC 0.637000 12 106 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6772887 6772887 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:6772887G>C ENST00000304076.2 + 1 163 c.69G>C c.(67-69)gtG>gtC p.V23V VAV1_ENST00000602142.1_Silent_p.V23V|VAV1_ENST00000596764.1_Silent_p.V23V NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 23 CH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCCACCGCGTGACCTGGGATG 0.667000 21 53 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127318260 127318260 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:127318260G>A ENST00000265056.7 + 2 350 c.106G>A c.(106-108)Gat>Aat p.D36N NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 36 Interaction with MYST2 (By similarity). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CCGGCGTACTGATGCCCTCAC 0.637000 77 127 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412228 43412228 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43412228C>G ENST00000310826.5 - 3 2160 c.1977G>C c.(1975-1977)aaG>aaC p.K659N ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.K659N|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K659N|ZBTB21_ENST00000398505.3_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 TCAAGTTCCTCTTGATGACTT 0.448000 20 95 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17373641 17373641 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:17373641C>G ENST00000242057.4 + 7 1454 c.811C>G c.(811-813)Cca>Gca p.P271A NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 271 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GATAGCTACTCCACTTCAGCC 0.393000 11 88 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205033503 205033503 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:205033503C>G ENST00000331830.4 + 11 1578 c.1294C>G c.(1294-1296)Cgc>Ggc p.R432G NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 432 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCCCGCGGCCCGCGGGGGAGA 0.607000 61 130 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95229847 95229847 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:95229847C>A ENST00000295256.5 - 4 364 c.274G>T c.(274-276)Gtg>Ttg p.V92L HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 92 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) AGAGTGTCCACAATAGCATCA 0.343000 7 57 0.00448238 0.00453293 1 1 0 C1orf87 127795 broad.mit.edu 37 1 60463291 60463291 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:60463291C>G ENST00000371201.3 - 11 1577 c.1470G>C c.(1468-1470)ctG>ctC p.L490L C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.L261L|C1orf87_ENST00000395552.1_Silent_p.L124L NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 490 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGTGTTACTCAGATCACACA 0.438000 7 52 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19956145 19956145 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:19956145C>T ENST00000255006.6 + 8 1772 c.1623C>T c.(1621-1623)ctC>ctT p.L541L RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 492 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TGCCCAAGCTCGTCAAGTCCC 0.597000 32 98 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42843855 42843855 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:42843855G>C ENST00000398585.3 - 10 1124 c.1064C>G c.(1063-1065)tCt>tGt p.S355C TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S318C|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.S318C NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 318 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GAACATGAAAGATTGTCTCAA 0.438000 T """ERG, ETV1, ETV4, ETV5""" prostate 24 62 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154767857 154767857 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:154767857G>A ENST00000404141.1 - 6 777 c.623C>T c.(622-624)tCt>tTt p.S208F PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S208F Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 208 DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CTCATTCTGAGAAtcttgttc 0.433000 3 7 0 0 1 0 0 HSPB7 27129 broad.mit.edu 37 1 16344385 16344385 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:16344385G>C ENST00000311890.9 - 1 900 c.74C>G c.(73-75)tCc>tGc p.S25C HSPB7_ENST00000487046.1_Missense_Mutation_p.S25C|HSPB7_ENST00000545268.1_Missense_Mutation_p.S25C|HSPB7_ENST00000406363.2_Missense_Mutation_p.S25C|HSPB7_ENST00000411503.1_Missense_Mutation_p.S25C|HSPB7_ENST00000375718.4_Intron NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 25 Poly-Ser.|Required for localization to SC35 splicing speckles. regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) ggaggaggtggaagaggagga 0.637000 4 21 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9107729 9107729 + Missense_Mutation SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:9107729T>C ENST00000377424.4 - 4 537 c.358A>G c.(358-360)Aga>Gga p.R120G SLC2A5_ENST00000535586.1_Missense_Mutation_p.R5G|SLC2A5_ENST00000377414.3_Missense_Mutation_p.R120G|SLC2A5_ENST00000536305.1_Missense_Mutation_p.R61G NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 120 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GTGGCGACTCTGCTGCATCCC 0.428000 64 77 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 11 20 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17688078 17688078 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:17688078G>A ENST00000252599.4 + 7 1144 c.1024G>A c.(1024-1026)Gag>Aag p.E342K NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 GGGCTTCGACGAGGTGAGCTG 0.667000 11 20 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95665003 95665003 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:95665003G>A ENST00000324972.6 + 13 1547 c.1354G>A c.(1354-1356)Gtc>Atc p.V452I DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415I|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415I|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432I|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435I|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435I NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 452 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AACGGGAGACGTCAATAACTT 0.468000 56 141 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24538026 24538026 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:24538026G>C ENST00000355123.4 - 3 542 c.99C>G c.(97-99)ctC>ctG p.L33L ITSN2_ENST00000361999.3_Silent_p.L33L|ITSN2_ENST00000406921.3_Silent_p.L33L|ITSN2_ENST00000407704.1_5'UTR NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 33 EH 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGAAGGTTTGAGGTTATCAA 0.338000 19 55 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472094 47472094 + Missense_Mutation SNP A A G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:47472094A>G ENST00000266581.4 - 2 1158 c.692T>C c.(691-693)gTc>gCc p.V231A AMIGO2_ENST00000321382.3_Missense_Mutation_p.V231A|AMIGO2_ENST00000429635.1_Missense_Mutation_p.V231A|AMIGO2_ENST00000550413.1_Missense_Mutation_p.V231A NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 231 LRRCT. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) ACAGTCACAGACAAATGGGTT 0.443000 5 23 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110740069 110740069 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:110740069G>A ENST00000331565.4 + 11 2148 c.1663G>A c.(1663-1665)Gag>Aag p.E555K NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 555 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GTTCATGCAGGAGCTGACGGA 0.562000 OREG0013652 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 98 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46298716 46298716 + Splice_Site SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:46298716G>A ENST00000334344.6 + 21 5535 c.e21-1 ARID2_ENST00000457135.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTTTTTGCAGATTGTTAAAG 0.328000 """N, S, F""" hepatocellular carcinoma 3 31 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104474764 104474764 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr14:104474764G>A ENST00000409874.4 + 20 2115 c.2067G>A c.(2065-2067)tgG>tgA p.W689* TDRD9_ENST00000339063.5_Nonsense_Mutation_p.W689* NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 689 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) AACTTAATTGGGGACGGTTAA 0.254000 16 33 0 0 1 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32122491 32122491 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:32122491C>G ENST00000422437.1 + 2 311 c.120C>G c.(118-120)atC>atG p.I40M PPT2_ENST00000375143.2_Missense_Mutation_p.I40M|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.I40M|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000324816.6_Missense_Mutation_p.I40M|PPT2_ENST00000361568.2_Missense_Mutation_p.I46M|PPT2_ENST00000375137.2_Missense_Mutation_p.I40M|PPT2_ENST00000395523.1_Missense_Mutation_p.I40M AGCCGGTCATCGTGGTGCATG 0.657000 35 59 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3783952 3783952 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:3783952C>T ENST00000310132.6 - 6 840 c.442G>A c.(442-444)Gag>Aag p.E148K MATK_ENST00000585778.1_Missense_Mutation_p.E148K|MATK_ENST00000395040.2_Missense_Mutation_p.E107K|MATK_ENST00000395045.2_Missense_Mutation_p.E149K NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 148 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CGCGCGGACTCCCGCACCAGG 0.687000 4 29 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39888326 39888326 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:39888326G>A ENST00000393939.2 - 4 768 c.759C>T c.(757-759)ctC>ctT p.L253L HAP1_ENST00000310778.5_Silent_p.L253L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.L253L|HAP1_ENST00000341193.5_Silent_p.L261L P54257 HAP1_HUMAN huntingtin-associated protein 1 253 HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) AGTAGAGCTGGAGGAGCTCAT 0.527000 7 32 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167938 161167938 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:161167938G>A ENST00000367996.5 - 1 908 c.480C>T c.(478-480)ctC>ctT p.L160L ADAMTS4_ENST00000367995.3_Silent_p.L160L NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCTGGAGGTGGAGTTCAGCCC 0.622000 21 720 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20102612 20102612 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:20102612G>C ENST00000541730.1 - 12 1541 c.946C>G c.(946-948)Ctc>Gtc p.L316V MBOAT1_ENST00000324607.7_Missense_Mutation_p.L465V Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 465 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ATTATCAGGAGACTTATGATG 0.338000 45 71 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31850318 31850318 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:31850318G>A ENST00000397525.1 - 10 1547 c.1324C>T c.(1324-1326)Ctg>Ttg p.L442L EIF4ENIF1_ENST00000344710.5_Silent_p.L279L|EIF4ENIF1_ENST00000330125.5_Silent_p.L442L|EIF4ENIF1_ENST00000382180.2_Silent_p.L121L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Silent_p.L442L NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 442 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AAGCCCTTCAGACCTGCTTCT 0.463000 5 47 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13759060 13759060 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:13759060G>A ENST00000265104.4 - 61 10418 c.10314C>T c.(10312-10314)ctC>ctT p.L3438L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3438 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCATGGCCAGGAGATGGCGAT 0.542000 Kartagener syndrome 49 91 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142225954 142225954 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:142225954G>A ENST00000519067.1 - 6 1995 c.1692C>T c.(1690-1692)taC>taT p.Y564Y SLC45A4_ENST00000517878.1_Silent_p.Y615Y|SLC45A4_ENST00000433583.2_Silent_p.Y557Y|SLC45A4_ENST00000024061.3_Silent_p.Y564Y Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 615 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCATGGCGACGTAGACGTTGG 0.592000 12 67 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140728821 140728821 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:140728821C>T ENST00000460843.1 + 26 3588 c.3561C>T c.(3559-3561)atC>atT p.I1187I NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1187 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) TTTACTGCATCGACGCGCGGT 0.677000 8 33 0 0 1 0 0 CLDN3 1365 broad.mit.edu 37 7 73183942 73183942 + Missense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:73183942G>T ENST00000395145.2 - 1 658 c.438C>A c.(436-438)ttC>ttA p.F146L NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 146 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) CGGGGTTGTAGAAGTCCCGGA 0.701000 7 14 5.18039e-06 5.3188e-06 1 1 0 UNC13B 10497 broad.mit.edu 37 9 35389933 35389933 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:35389933G>A ENST00000378495.3 + 24 3160 c.2938G>A c.(2938-2940)Gag>Aag p.E980K UNC13B_ENST00000396787.1_Missense_Mutation_p.E992K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E980K NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 980 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTCAATCATAGAGGAAGATAA 0.498000 67 58 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564297 140564297 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:140564297G>A ENST00000361016.2 + 1 3318 c.2163G>A c.(2161-2163)tcG>tcA p.S721S NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 721 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCTCGGTGGGCCGCT 0.662000 56 119 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411420 43411420 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43411420C>G ENST00000310826.5 - 3 2968 c.2785G>C c.(2785-2787)Gag>Cag p.E929Q ZBTB21_ENST00000398499.1_Missense_Mutation_p.E929Q|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E929Q|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E728Q NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CACAGAAGCTCCTGGTGACGC 0.512000 9 52 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119413985 119413985 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:119413985G>A ENST00000313400.4 - 17 2994 c.2894C>T c.(2893-2895)tCa>tTa p.S965L ASTN2_ENST00000361477.3_Missense_Mutation_p.S17L|ASTN2_ENST00000358637.4_Missense_Mutation_p.S17L|ASTN2_ENST00000373996.3_Missense_Mutation_p.S961L|ASTN2_ENST00000288520.5_Missense_Mutation_p.S66L|ASTN2_ENST00000341734.4_Missense_Mutation_p.S17L|ASTN2_ENST00000361209.2_Missense_Mutation_p.S914L O75129 ASTN2_HUMAN astrotactin 2 965 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTGGTCATCTGACAGCATCTG 0.577000 14 51 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52523606 52523606 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:52523606C>T ENST00000345716.4 + 17 3502 c.3368C>T c.(3367-3369)tCg>tTg p.S1123L NISCH_ENST00000479054.1_Missense_Mutation_p.S1123L NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1123 S -> P (in Ref. 8; AAH38102). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CAGATCCCCTCGCACTTGCCT 0.687000 18 87 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163297 32163297 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:32163297C>T ENST00000375023.3 - 30 6067 c.5929G>A c.(5929-5931)Gag>Aag p.E1977K GPSM3_ENST00000375043.3_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1977 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.E1977Q(2)|p.E1977K(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GATCCCCGCTCCGGGGACGGA 0.567000 22 75 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160920404 160920404 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:160920404C>T ENST00000368029.3 - 5 596 c.539G>A c.(538-540)aGg>aAg p.R180K ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 180 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGTGCGGTACCTCAGCAGGGC 0.577000 531 90 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128122945 128122945 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:128122945G>A ENST00000470056.1 + 24 4262 c.4102G>A c.(4102-4104)Gag>Aag p.E1368K GAPVD1_ENST00000495955.1_Missense_Mutation_p.E1413K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1395K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1347K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1413K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1374K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1387K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1422K Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1413 VPS9. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCTGGCCAATGAGGACTCTGT 0.473000 43 55 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097728 85097728 + Nonsense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:85097728G>C ENST00000335459.5 - 2 495 c.290C>G c.(289-291)tCa>tGa p.S97* TRABD2A_ENST00000409520.2_Nonsense_Mutation_p.S97*|TRABD2A_ENST00000409133.1_Nonsense_Mutation_p.S97* NM_001080824.1 NP_001074293.1 TraB domain containing 2A GGTGAGAGCTGAGATGGTATA 0.552000 3 22 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30734595 30734595 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:30734595G>C ENST00000217315.5 + 9 1180 c.840G>C c.(838-840)ctG>ctC p.L280L TM9SF4_ENST00000398022.2_Silent_p.L297L Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 297 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAGGTATCCTGAGCATGATTA 0.517000 9 21 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61997290 61997290 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr14:61997290G>C ENST00000332981.5 + 12 2123 c.1738G>C c.(1738-1740)Gat>Cat p.D580H PRKCH_ENST00000555082.1_Missense_Mutation_p.D419H|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.K84N NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 580 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GCTCCATGAAGATGCCACAGG 0.478000 22 30 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30704790 30704790 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:30704790G>A ENST00000471646.1 - 5 856 c.439C>T c.(439-441)Ctg>Ttg p.L147L CRHR2_ENST00000341843.4_Silent_p.L133L|CRHR2_ENST00000348438.4_Silent_p.L174L|CRHR2_ENST00000506074.2_Silent_p.L147L NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 147 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACATTCCGCAGACAGCGAATG 0.567000 7 18 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52531671 52531671 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:52531671C>T ENST00000242839.4 - 9 2584 c.2428G>A c.(2428-2430)Gag>Aag p.E810K ATP7B_ENST00000448424.2_Missense_Mutation_p.E732K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E648K|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.E82K|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.E810K|ATP7B_ENST00000400366.3_Missense_Mutation_p.E699K NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 810 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) AAATTGTCCTCACCAAGGGTC 0.433000 Wilson disease 11 90 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127898409 127898409 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:127898409G>T ENST00000329722.7 + 1 91 c.79G>T c.(79-81)Gag>Tag p.E27* C6orf58_ENST00000498112.1_Intron NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 27 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CAATCTCTCAGAGACAGAGCC 0.502000 35 76 1.21669e-08 1.26611e-08 1 1 0 ZNF217 7764 broad.mit.edu 37 20 52192921 52192921 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:52192921C>T ENST00000371471.2 - 4 2807 c.2382G>A c.(2380-2382)caG>caA p.Q794Q ZNF217_ENST00000302342.3_Silent_p.Q794Q O75362 ZN217_HUMAN zinc finger protein 217 794 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CAGGAGGGCTCTGCTTCCCCT 0.562000 8 53 0 0 1 0 0 GDF7 151449 broad.mit.edu 37 2 20870915 20870915 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:20870915C>T ENST00000272224.3 + 2 1659 c.1083C>T c.(1081-1083)ctC>ctT p.L361L NM_182828.2 NP_878248.2 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 361 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAAGGAGCTCGGCTGGGACG 0.716000 5 31 0 0 1 0 0 GPR17 2840 broad.mit.edu 37 2 128409308 128409308 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:128409308G>A ENST00000544369.1 + 4 1694 c.1083G>A c.(1081-1083)ctG>ctA p.L361L LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.L361L|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.L361L|LIMS2_ENST00000409808.2_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 361 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) AGAGCTCGCTGAGTGCCAAGT 0.627000 25 46 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245772807 245772807 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:245772807G>A ENST00000366518.4 + 5 852 c.748G>A c.(748-750)Gag>Aag p.E250K KIF26B_ENST00000407071.2_Missense_Mutation_p.E631K Q2KJY2 KI26B_HUMAN kinesin family member 26B 631 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GTACCTCTGTGAGGACCCCAT 0.682000 4 8 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101895004 101895004 + Missense_Mutation SNP C C T rs144313652 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:101895004C>T ENST00000374994.4 + 3 674 c.557C>T c.(556-558)aCg>aTg p.T186M TGFBR1_ENST00000552516.1_Missense_Mutation_p.T190M|TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Missense_Mutation_p.T117M NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 186 GS. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) GATATGACAACGTCAGGTTCT 0.348000 17 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179417514 179417514 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:179417514G>A ENST00000589042.1 - 335 90337 c.90113C>T c.(90112-90114)tCa>tTa p.S30038L TTN_ENST00000591111.1_Missense_Mutation_p.S28397L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21098L|TTN_ENST00000460472.2_Missense_Mutation_p.S20973L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21165L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27470L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28397 Ig-like 136. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTTCATTGAGAGATCACG 0.438000 12 37 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40318041 40318041 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:40318041C>G ENST00000593685.1 - 8 1447 c.979G>C c.(979-981)Gag>Cag p.E327Q DYRK1B_ENST00000430012.2_Missense_Mutation_p.E327Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.E327Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.E327Q|DYRK1B_ENST00000323039.5_Missense_Mutation_p.E327Q Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 327 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CCCAGCACCTCCACAATGCGG 0.657000 10 50 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47501795 47501795 + Nonsense_Mutation SNP C C T rs115915334 by1000genomes TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:47501795C>T ENST00000371901.3 + 6 977 c.727C>T c.(727-729)Cag>Tag p.Q243* CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.Q242*|CYP4X1_ENST00000466294.1_3'UTR NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 243 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ACTCAGCCCTCAGGGCTACCG 0.433000 44 72 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100521887 100521887 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:100521887C>G ENST00000457717.1 + 10 1489 c.1233C>G c.(1231-1233)ctC>ctG p.L411L MTTP_ENST00000511045.1_Silent_p.L438L|MTTP_ENST00000265517.5_Silent_p.L411L|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 411 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGAGAGCCCTCATTGTAAGTC 0.363000 21 20 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46996904 46996904 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:46996904C>G ENST00000599531.1 - 1 2851 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 609 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCCTTGGCCTCGCCTGCCCTG 0.736000 3 11 0 0 1 0 0 LENG9 94059 broad.mit.edu 37 19 54973699 54973699 + Missense_Mutation SNP C C A rs141751232 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:54973699C>A ENST00000333834.4 - 1 1195 c.1077G>T c.(1075-1077)caG>caT p.Q359H NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 359 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GGTGTAGGTTCTGAGAGGGCA 0.647000 14 58 1.37285e-15 1.45393e-15 1 1 0 MYO5B 4645 broad.mit.edu 37 18 47500758 47500758 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:47500758G>C ENST00000285039.7 - 10 1583 c.1284C>G c.(1282-1284)ctC>ctG p.L428L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 428 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGTGCTGCTTGAGGGAGGTGT 0.572000 16 55 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27590687 27590687 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:27590687C>T ENST00000493344.2 - 7 1083 c.771G>A c.(769-771)gtG>gtA p.V257V EIF2B4_ENST00000451130.2_Silent_p.V256V|EIF2B4_ENST00000347454.4_Silent_p.V236V|EIF2B4_ENST00000445933.2_Silent_p.V235V Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 236 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATCCTGAATCACCTATAGGG 0.443000 16 63 0 0 1 0 0 NAT8 9027 broad.mit.edu 37 2 73868208 73868208 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:73868208G>C ENST00000272425.3 - 2 697 c.548C>G c.(547-549)tCt>tGt p.S183C NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 183 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 GGCCATAGCAGAGAGCTGGAT 0.562000 19 30 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159872 72159872 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:72159872C>T ENST00000537465.1 - 15 2421 c.2263G>A c.(2263-2265)Gag>Aag p.E755K PMFBP1_ENST00000355636.6_Missense_Mutation_p.E605K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E750K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 755 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CTCACCTTCTCGAGGGCTTGT 0.537000 35 90 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6196898 6196898 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:6196898G>A ENST00000262450.3 - 16 2563 c.2464C>T c.(2464-2466)Ctg>Ttg p.L822L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 822 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GAGGTGAGCAGCACGTGGAAT 0.567000 8 38 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54446755 54446755 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:54446755G>A ENST00000254442.3 + 18 3252 c.3041G>A c.(3040-3042)cGa>cAa p.R1014Q WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R981Q NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1014 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) ATGCTGGCCCGAAGATGGCAA 0.413000 12 47 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29391509 29391509 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:29391509C>G ENST00000343067.4 + 16 2150 c.2023C>G c.(2023-2025)Caa>Gaa p.Q675E EPB41_ENST00000373798.1_Missense_Mutation_p.Q675E|EPB41_ENST00000398863.2_Missense_Mutation_p.Q621E|EPB41_ENST00000373800.3_Missense_Mutation_p.Q433E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q586E|EPB41_ENST00000349460.4_Missense_Mutation_p.Q452E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q661E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q642E NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 675 Spectrin--actin-binding. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AGACAAGAGTCAAGAGGAGAT 0.433000 18 31 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109046871 109046871 + Splice_Site SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:109046871C>T ENST00000335658.6 - 7 933 c.879G>A c.(877-879)agG>agA p.R293R NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 293 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 AGACCTTGTTCCTATAAAGCA 0.343000 79 142 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101505356 101505356 + Missense_Mutation SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:101505356T>C ENST00000392979.3 + 23 2574 c.2213T>C c.(2212-2214)aTt>aCt p.I738T ANO4_ENST00000550015.1_Missense_Mutation_p.I293T|ANO4_ENST00000392977.3_Missense_Mutation_p.I773T|ANO4_ENST00000299222.9_Missense_Mutation_p.I293T NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 773 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGGTATGGAATTCTTGAAGGC 0.328000 HNSCC(74;0.22) 5 50 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99272047 99272047 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:99272047C>G ENST00000375241.1 - 13 1819 c.1368G>C c.(1366-1368)caG>caC p.Q456H CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.Q419H|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Intron NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 456 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TTTTACAGCTCTGAACACTGG 0.343000 34 34 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110456059 110456059 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:110456059G>A ENST00000378402.5 + 37 4823 c.4719G>A c.(4717-4719)ccG>ccA p.P1573P NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1573 IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACATTACTCCGTCCACTGGAA 0.358000 HNSCC(38;0.096) 6 71 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236195949 236195949 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:236195949G>A ENST00000264187.6 - 6 1371 c.1289C>T c.(1288-1290)tCc>tTc p.S430F NID1_ENST00000366595.3_Missense_Mutation_p.S430F NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 430 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TCGCTGGGGGGAACCTGAGCA 0.458000 9 18 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198711117 198711117 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:198711117C>T ENST00000367376.2 + 24 2688 c.2517C>T c.(2515-2517)ttC>ttT p.F839F PTPRC_ENST00000348564.6_Silent_p.F680F|PTPRC_ENST00000594404.1_Silent_p.F678F|PTPRC_ENST00000442510.2_Silent_p.F841F|PTPRC_ENST00000352140.3_Silent_p.F791F NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 839 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TGAATGCCTTCAGCAATTTCT 0.473000 7 39 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47278938 47278938 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:47278938G>A ENST00000319190.5 + 18 2439 c.2071G>A c.(2071-2073)Gag>Aag p.E691K TTC7A_ENST00000394850.2_Missense_Mutation_p.E715K|TTC7A_ENST00000263737.6_Missense_Mutation_p.E337K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E657K NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 691 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GGCCATGTCAGAGCTGACTAT 0.662000 17 46 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25302012 25302012 + RNA SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:25302012G>A ENST00000549804.2 + 0 98 SNORD116-3_ENST00000384287.1_RNA TGCTTGGATCGATGATGAGTC 0.507000 15 188 0 0 1 0 0 SPSB2 84727 broad.mit.edu 37 12 6981895 6981895 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:6981895G>C ENST00000519357.1 - 2 357 c.171C>G c.(169-171)atC>atG p.I57M SPSB2_ENST00000523102.1_Missense_Mutation_p.I57M|SPSB2_ENST00000524270.1_Missense_Mutation_p.I57M Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box containing 2 57 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding kidney(2)|lung(2)|upper_aerodigestive_tract(1) 5 CCTTGACCTCGATGTTCTCTG 0.647000 OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 89 0 0 1 0 0 NME9 347736 broad.mit.edu 37 3 138023786 138023786 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:138023786G>A ENST00000383180.2 - 10 774 c.537C>T c.(535-537)gaC>gaT p.D179D NME9_ENST00000317876.4_Silent_p.D179D|NME9_ENST00000341790.5_Silent_p.D177D|NME9_ENST00000333911.3_Silent_p.D240D|NME9_ENST00000484930.1_Silent_p.D177D|NME9_ENST00000536478.1_Silent_p.D179D NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 240 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TAGTGACCACGTCCTCGAAGC 0.592000 20 274 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111643787 111643787 + Missense_Mutation SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:111643787T>C ENST00000435970.1 - 28 8918 c.8102A>G c.(8101-8103)tAt>tGt p.Y2701C REV3L_ENST00000368802.3_Missense_Mutation_p.Y2779C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y2779C|REV3L_ENST00000358835.3_Missense_Mutation_p.Y2779C O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2779 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGTATCGCCATATACAACCCT 0.403000 DNA polymerases (catalytic subunits) 25 100 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48504462 48504462 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:48504462G>C ENST00000417961.1 + 16 1993 c.1783G>C c.(1783-1785)Gag>Cag p.E595Q SLC9A8_ENST00000541138.1_Missense_Mutation_p.E279Q|SLC9A8_ENST00000361573.2_Missense_Mutation_p.E579Q|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.E360Q NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 579 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CGACGAGCAGGAGCTGCTCTG 0.652000 7 43 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038328 75038328 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:75038328G>C ENST00000326665.5 - 14 3284 c.3066C>G c.(3064-3066)gcC>gcG p.A1022A C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1022 Glu-rich. 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 TGCAAAGGAAGGCTTCCTTTG 0.502000 19 102 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110406159 110406159 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:110406159C>G ENST00000372007.5 + 9 876 c.485C>G c.(484-486)tCt>tGt p.S162C PAK3_ENST00000519681.1_Missense_Mutation_p.S183C|PAK3_ENST00000360648.4_Missense_Mutation_p.S198C|PAK3_ENST00000417227.1_Missense_Mutation_p.S183C|PAK3_ENST00000262836.4_Missense_Mutation_p.S177C|PAK3_ENST00000518291.1_Missense_Mutation_p.S198C|PAK3_ENST00000425146.1_Missense_Mutation_p.S162C|PAK3_ENST00000372010.1_Missense_Mutation_p.S177C|PAK3_ENST00000446737.1_Missense_Mutation_p.S162C NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AAAACAGCATCTGAGCCTCCA 0.383000 TSP Lung(19;0.15) 19 59 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65098412 65098412 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:65098412G>A ENST00000371073.2 + 6 775 c.775G>A c.(775-777)Gat>Aat p.D259N CACHD1_ENST00000495994.1_Intron|CACHD1_ENST00000290039.5_Missense_Mutation_p.D208N Q5VU97 CAHD1_HUMAN cache domain containing 1 259 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CAGCGCCATCGATGAACATGA 0.468000 12 39 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131414187 131414187 + Translation_Start_Site SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:131414187C>A ENST00000357668.1 - 1 30 c.3G>T c.(1-3)atG>atT p.M1I ASAP1_ENST00000518721.1_Start_Codon_SNP_p.M1I Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 1 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CTGAAGATCTCATGTCTCAGC 0.517000 35 91 5.71845e-15 6.04426e-15 1 1 0 PUM1 9698 broad.mit.edu 37 1 31465283 31465283 + Nonsense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:31465283G>C ENST00000373747.3 - 7 1211 c.1112C>G c.(1111-1113)tCa>tGa p.S371* PUM1_ENST00000426105.2_Nonsense_Mutation_p.S371*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.S371*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.S371*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.S311*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.S275*|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Nonsense_Mutation_p.S407* NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 371 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGCTGCTGCTGAGTCCACAGG 0.522000 20 110 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122552284 122552284 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:122552284G>C ENST00000261038.5 + 4 1222 c.824G>C c.(823-825)aGa>aCa p.R275T NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 275 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) AGCGTTTGTAGATTATTAAGG 0.398000 84 90 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111887850 111887850 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:111887850C>T ENST00000305815.5 - 25 3363 c.3111G>A c.(3109-3111)atG>atA p.M1037I SLC9C1_ENST00000487372.1_Missense_Mutation_p.M989I NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1037 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTTTGGTACTCATTGGTATAT 0.303000 14 64 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793385 242793385 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:242793385C>T ENST00000334409.5 - 5 761 c.692G>A c.(691-693)cGa>cAa p.R231Q NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 231 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GGTCTTCTCTCGCCACTGGAA 0.627000 5 23 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679043 104679043 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:104679043C>G ENST00000369878.4 + 1 994 c.806C>G c.(805-807)tCg>tGg p.S269W CNNM2_ENST00000369875.3_Missense_Mutation_p.S269W|CNNM2_ENST00000433628.2_Missense_Mutation_p.S269W NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 DUF21. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CTGTGCCTGTCGGGCATGTTC 0.597000 17 37 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30232580 30232580 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:30232580C>T ENST00000376075.3 + 5 464 c.389C>T c.(388-390)cCa>cTa p.P130L COX4I2_ENST00000490030.1_3'UTR NM_032609.2 NP_115998.2 Q96KJ9 COX42_HUMAN cytochrome c oxidase subunit IV isoform 2 (lung) 130 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GTATTTCCTCCAAAGCCGATC 0.617000 5 45 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19319105 19319105 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:19319105C>A ENST00000461366.1 + 14 1728 c.1513C>A c.(1513-1515)Ctg>Atg p.L505M NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 505 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 AGATGCCATTCTGGCCCGCCA 0.607000 12 21 9.31168e-06 9.54225e-06 1 1 0 PXK 54899 broad.mit.edu 37 3 58410642 58410642 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:58410642G>C ENST00000479241.1 + 18 1713 c.1672G>C c.(1672-1674)Gag>Cag p.E558Q PXK_ENST00000536660.1_Missense_Mutation_p.L427F|PXK_ENST00000302779.5_Missense_Mutation_p.L547F|PXK_ENST00000356151.2_Missense_Mutation_p.L564F|PXK_ENST00000383716.3_Missense_Mutation_p.L531F|PXK_ENST00000463280.1_3'UTR Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 0 WH2. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AAGGAACTTTGAGGAAAGCCA 0.512000 14 32 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010581 59010581 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:59010581C>G ENST00000263093.2 - 8 1783 c.1674G>C c.(1672-1674)aaG>aaC p.K558N SLC27A5_ENST00000601355.1_Missense_Mutation_p.K474N|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000599700.1_5'UTR NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 558 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGTTCTCGCCCTTCCATCTGC 0.667000 4 24 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77859162 77859162 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:77859162C>T ENST00000302536.2 + 3 536 c.383C>T c.(382-384)gCa>gTa p.A128V NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 128 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CGTGTCATGGCATTTGTCAAT 0.522000 13 80 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. 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 ctgccgccgctgctgctgctg 0.731000 3 24 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33612854 33612854 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:33612854G>A ENST00000321505.4 + 11 3927 c.3747G>A c.(3745-3747)gtG>gtA p.V1249V KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Silent_p.V1255V KIAA1549-like TCATCCCTGTGACTCAGGAGA 0.537000 5 26 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10916634 10916634 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:10916634C>T ENST00000314646.5 + 13 1700 c.1536C>T c.(1534-1536)atC>atT p.I512I DNM2_ENST00000585892.1_Silent_p.I512I|DNM2_ENST00000355667.6_Silent_p.I512I|DNM2_ENST00000389253.4_Silent_p.I512I|DNM2_ENST00000359692.6_Silent_p.I512I|DNM2_ENST00000408974.4_Silent_p.I512I P50570 DYN2_HUMAN dynamin 2 512 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGAGAGCCATCCCCAATCAGG 0.612000 """F, N, Splice, Mis, O""" ETP ALL 8 45 0 0 1 0 0 FAM26D 221301 broad.mit.edu 37 6 116879168 116879168 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:116879168C>A ENST00000368596.3 + 2 783 c.739C>A c.(739-741)Cgc>Agc p.R247S FAM26D_ENST00000405399.1_Missense_Mutation_p.R104S|FAM26D_ENST00000416171.2_Missense_Mutation_p.R103S|FAM26D_ENST00000368597.2_Missense_Mutation_p.R61S Q5JW98 FA26D_HUMAN family with sequence similarity 26, member D 247 integral to membrane endometrium(1)|lung(5) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) CATGATGCATCGCATAAAGAA 0.488000 34 75 3.62531e-18 3.85458e-18 1 1 0 GLI4 2738 broad.mit.edu 37 8 144356908 144356908 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:144356908G>A ENST00000517468.1 + 2 182 c.143G>A c.(142-144)aGc>aAc p.S48N GLI4_ENST00000523522.1_Silent_p.Q53Q|GLI4_ENST00000344692.3_Silent_p.Q53Q|GLI4_ENST00000521682.1_Silent_p.Q53Q|GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Silent_p.Q53Q|ZFP41_ENST00000522452.1_3'UTR P10075 GLI4_HUMAN GLI family zinc finger 4 0 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) TGCTCTCCCAGCCGTCCGACC 0.647000 4 9 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78700967 78700967 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:78700967G>A ENST00000436010.2 - 17 3607 c.2610C>T c.(2608-2610)atC>atT p.I870I ROBO1_ENST00000467549.1_Silent_p.I873I|ROBO1_ENST00000464233.1_Silent_p.I909I|ROBO1_ENST00000495273.1_Silent_p.I873I Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 909 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CCATGAGGATGATCCAACAGG 0.507000 7 59 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1053410 1053410 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:1053410G>A ENST00000263094.6 + 24 3534 c.3303G>A c.(3301-3303)ctG>ctA p.L1101L ABCA7_ENST00000433129.1_Silent_p.L1101L|ABCA7_ENST00000435683.2_Silent_p.L963L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1101 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGGTGCTGGTGCTGCCCT 0.662000 3 13 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49932792 49932792 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:49932792C>T ENST00000296474.3 - 14 3106 c.3079G>A c.(3079-3081)Gat>Aat p.D1027N MST1R_ENST00000344206.4_Missense_Mutation_p.D978N NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1027 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TCCAGACCATCAATGGCAGGG 0.537000 13 83 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764768 138764768 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:138764768G>A ENST00000242351.5 - 4 1235 c.919C>T c.(919-921)Cgg>Tgg p.R307W ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R307W|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R307W NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 307 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GAGGGAGGCCGAGCGCGATCC 0.582000 21 59 0 0 1 0 0 TMEM52B 120939 broad.mit.edu 37 12 10339113 10339113 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:10339113G>A ENST00000298530.3 + 3 750 c.172G>A c.(172-174)Gat>Aat p.D58N TMEM52B_ENST00000536952.1_Missense_Mutation_p.D78N|TMEM52B_ENST00000381923.2_Missense_Mutation_p.D78N NM_153022.2 NP_694567.1 transmembrane protein 52B AAATGGGGAAGATGGGGGCCC 0.552000 24 63 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50883087 50883087 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:50883087C>G ENST00000542413.1 + 12 1598 c.171C>G c.(169-171)atC>atG p.I57M NR1H2_ENST00000253727.5_Missense_Mutation_p.I326M|NR1H2_ENST00000411902.2_Missense_Mutation_p.I229M|NR1H2_ENST00000598168.1_Missense_Mutation_p.I296M|NR1H2_ENST00000593926.1_Missense_Mutation_p.I326M|NR1H2_ENST00000599105.1_Missense_Mutation_p.I282M P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 326 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CAGAGTGTATCACCTTCTTGA 0.617000 14 42 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43325908 43325908 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43325908C>T ENST00000380486.3 - 11 1598 c.1357G>A c.(1357-1359)Gag>Aag p.E453K C2CD2_ENST00000329623.7_Missense_Mutation_p.E298K NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 453 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ATGTCCTTCTCGATCACCTTC 0.562000 17 25 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50714136 50714136 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:50714136G>C ENST00000595015.1 + 1 34 c.34G>C c.(34-36)Gag>Cag p.E12Q PLXNB2_ENST00000359337.4_Silent_p.L1838L|PLXNB2_ENST00000449103.1_Silent_p.L1838L TTGTAGGTCAGAGGTCAGTGA 0.612000 OREG0026679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 11 0 0 1 0 0 ZNF691 51058 broad.mit.edu 37 1 43317430 43317430 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:43317430C>T ENST00000372504.1 + 5 1217 c.867C>T c.(865-867)ctC>ctT p.L289L ZNF691_ENST00000372502.1_Silent_p.L289L|ZNF691_ENST00000372507.1_Silent_p.L267L|ZNF691_ENST00000397044.3_Silent_p.L298L|ZNF691_ENST00000372506.1_Silent_p.L267L|ZNF691_ENST00000372508.3_Silent_p.L267L Q5VV52 ZN691_HUMAN zinc finger protein 691 298 nucleus DNA binding|zinc ion binding large_intestine(2)|lung(2)|ovary(2)|prostate(1) 7 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTCGAATCTCATCCGCCACC 0.557000 12 41 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39800271 39800271 + Nonsense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:39800271C>T ENST00000564288.1 + 37 8788 c.8011C>T c.(8011-8013)Cag>Tag p.Q2671* MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q2676*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q1111*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q2708*|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2676 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCAAGCAATTCAGCTTGGAAA 0.403000 19 42 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26517172 26517172 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:26517172C>G ENST00000456354.2 + 1 121 c.54C>G c.(52-54)ctC>ctG p.L18L NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 18 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) ATACAGGCCTCGAGGGGTGGG 0.577000 3 7 0 0 1 0 0 CEPT1 10390 broad.mit.edu 37 1 111726824 111726824 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:111726824C>G ENST00000545121.1 + 9 1351 c.1143C>G c.(1141-1143)ttC>ttG p.F381L CEPT1_ENST00000357172.4_Missense_Mutation_p.F381L|CEPT1_ENST00000467362.1_3'UTR NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 381 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) TTTTCTCTTTCTTTGATTTGA 0.433000 14 81 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61902632 61902632 + Nonsense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:61902632C>A ENST00000427159.2 - 7 1210 c.565G>T c.(565-567)Gaa>Taa p.E189* NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 189 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TCTGCAGATTCATGGCGAGAG 0.502000 14 50 2.62699e-14 2.77121e-14 1 1 0 ANGPTL3 27329 broad.mit.edu 37 1 63069688 63069688 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:63069688C>G ENST00000371129.3 + 6 1060 c.980C>G c.(979-981)tCt>tGt p.S327C DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 327 Fibrinogen C-terminal. acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 GTGAAGCAATCTAATTATGTT 0.328000 14 51 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119460354 119460354 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:119460354C>T ENST00000450136.1 + 2 494 c.333C>T c.(331-333)ttC>ttT p.F111F ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.F111F|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 111 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 CCCGGCAATTCTGCCGGAGCT 0.592000 15 87 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935717 151935717 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:151935717G>C ENST00000393902.3 - 3 1017 c.450C>G c.(448-450)atC>atG p.I150M MAGEA3_ENST00000370278.3_Missense_Mutation_p.I150M P43357 MAGA3_HUMAN melanoma antigen family A, 3 150 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CTTTGCTGAAGATCACAGGAA 0.527000 42 88 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108114803 108114803 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:108114803C>G ENST00000278616.4 + 6 1005 c.620C>G c.(619-621)tCc>tGc p.S207C ATM_ENST00000452508.2_Missense_Mutation_p.S207C NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 207 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.S207C(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGATTAAATTCCAAATTTTTG 0.348000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 23 41 0 0 1 0 0 LSM7 51690 broad.mit.edu 37 19 2328462 2328462 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:2328462C>T ENST00000252622.10 - 2 74 c.21G>A c.(19-21)aaG>aaA p.K7K NM_016199.2 NP_057283.1 Q9UK45 LSM7_HUMAN LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding kidney(1)|urinary_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCCTTTTTCTTCTTCTCCT 0.622000 13 46 0 0 1 0 0 OLA1 29789 broad.mit.edu 37 2 174946672 174946672 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:174946672C>T ENST00000284719.3 - 8 1095 c.849G>A c.(847-849)ctG>ctA p.L283L OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Silent_p.L125L|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000409546.1_Silent_p.L303L NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 283 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TGTTCGCTTCCAGATACTTCT 0.408000 27 42 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127631015 127631015 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:127631015G>A ENST00000354725.3 + 16 1879 c.1685G>A c.(1684-1686)aGa>aAa p.R562K SND1_ENST00000467238.1_3'UTR NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 562 TNase-like 4. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GAATGCCCCAGAGGAGCCCGA 0.547000 5 13 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183526914 183526914 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:183526914G>A ENST00000305135.5 + 30 4311 c.4116G>A c.(4114-4116)ctG>ctA p.L1372L YEATS2-AS1_ENST00000609871.1_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1372 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATGATATCCTGAGACAGGCTT 0.463000 42 355 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161013 90161013 + RNA SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:90161013C>T ENST00000564451.1 + 0 894 TUBB8P7_ENST00000567960.1_RNA CGGGGCCCTTCGGGCAGGTCT 0.667000 26 51 0 0 1 0 0 NUPL1 9818 broad.mit.edu 37 13 25881975 25881975 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:25881975C>T ENST00000463407.1 + 2 282 c.139C>T c.(139-141)Ctt>Ttt p.L47F NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.L47F|NUPL1_ENST00000381718.3_Missense_Mutation_p.L47F Q9BVL2 NUPL1_HUMAN nucleoporin like 1 47 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TTTTGGAAATCTTGGAAGTAC 0.418000 28 68 0 0 1 0 0 INTS8 55656 broad.mit.edu 37 8 95862252 95862252 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:95862252G>C ENST00000523731.1 + 12 1573 c.1440G>C c.(1438-1440)caG>caC p.Q480H INTS8_ENST00000447247.1_Missense_Mutation_p.Q480H NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 480 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TTGTTGATCAGATGAGGAAGA 0.398000 33 73 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38704921 38704921 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:38704921C>G ENST00000359357.3 + 4 444 c.190C>G c.(190-192)Cca>Gca p.P64A DNAH8_ENST00000441566.1_Missense_Mutation_p.P64A|DNAH8_ENST00000449981.2_Missense_Mutation_p.P281A dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TATATTTCTACCAGCTGTTCT 0.398000 32 102 0 0 1 0 0 ATP6V0E2 155066 broad.mit.edu 37 7 149576542 149576542 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:149576542G>A ENST00000421974.2 + 3 1369 c.418G>A c.(418-420)Gac>Aac p.D140N ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.D91N|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.D114N|ATP6V0E2_ENST00000425642.2_3'UTR NM_001100592.1 NP_001094062.1 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 0 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) CAGAGACCCGGACCCGCAGGG 0.677000 3 11 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701967 143701967 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:143701967G>C ENST00000408922.2 + 1 946 c.878G>C c.(877-879)cGa>cCa p.R293P NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R293Q(1) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CTAAGAAACCGAGAGGTCAAG 0.433000 6 37 0 0 1 0 0 TPD52 7163 broad.mit.edu 37 8 80915324 80915324 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:80915324C>T ENST00000537855.1 - 6 968 c.647G>A c.(646-648)gGa>gAa p.G216E MRPS28_ENST00000522987.1_5'UTR|MRPS28_ENST00000276585.4_Missense_Mutation_p.G102E|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000521434.1_Missense_Mutation_p.G40E P55327 TPD52_HUMAN tumor protein D52 0 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) AAAGATCCGTCCAATGACCAG 0.388000 18 51 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139837027 139837027 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:139837027G>A ENST00000325285.3 - 5 726 c.647C>T c.(646-648)tCg>tTg p.S216L FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 216 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CCACAGCACCGAGCAGGAGGT 0.682000 5 12 0 0 1 0 0 TMEM241 85019 broad.mit.edu 37 18 20979534 20979534 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:20979534C>G ENST00000383233.3 - 4 327 c.275G>C c.(274-276)aGa>aCa p.R92T TMEM241_ENST00000542162.1_Missense_Mutation_p.R92T|TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000399707.1_Missense_Mutation_p.R66T NM_032933.4 NP_116322.3 Q24JQ0 CR045_HUMAN transmembrane protein 241 92 integral to membrane ACTTACCAGTCTGGACAATGC 0.448000 5 38 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20136252 20136252 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:20136252G>A ENST00000396085.1 + 38 7445 c.7084G>A c.(7084-7086)Gag>Aag p.E2362K NAV2_ENST00000540292.1_Missense_Mutation_p.E2349K|NAV2_ENST00000527559.2_Missense_Mutation_p.E2347K|NAV2_ENST00000349880.4_Missense_Mutation_p.E2359K|NAV2_ENST00000533917.1_Missense_Mutation_p.E1423K|NAV2_ENST00000396087.3_Missense_Mutation_p.E2418K|NAV2_ENST00000360655.4_Missense_Mutation_p.E2295K|NAV2_ENST00000311043.8_Missense_Mutation_p.E1423K NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2418 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GTTACGGCCTGAGGATGTCGG 0.627000 5 12 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40059828 40059828 + Silent SNP G G A rs58500586 by1000genomes TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:40059828G>A ENST00000336649.4 + 22 3597 c.3597G>A c.(3595-3597)caG>caA p.Q1199Q CACNA1I_ENST00000400164.3_Silent_p.Q1158Q|CACNA1I_ENST00000407673.1_Silent_p.Q1158Q|CACNA1I_ENST00000401624.1_Silent_p.Q1193Q|CACNA1I_ENST00000402142.3_Silent_p.Q1193Q|CACNA1I_ENST00000404898.1_Silent_p.Q1158Q Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1193 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AGCGGCCTCAGATCGAGGCCG 0.622000 10 79 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71426404 71426404 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:71426404G>A ENST00000373657.1 - 3 2446 c.1844C>T c.(1843-1845)tCt>tTt p.S615F ERCC6L_ENST00000334463.3_Missense_Mutation_p.S738F|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 738 Helicase C-terminal. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) CTTTGTTGAAGAAGGAAATAC 0.398000 20 46 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185226661 185226661 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:185226661G>A ENST00000296252.4 - 10 1414 c.1273C>T c.(1273-1275)Cag>Tag p.Q425* LIPH_ENST00000424591.2_Nonsense_Mutation_p.Q391* NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 425 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CGACACAGCTGAGGCCTGGGA 0.348000 8 41 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948700 198948700 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:198948700C>T ENST00000428675.1 + 2 857 c.459C>T c.(457-459)ctC>ctT p.L153L PLCL1_ENST00000437704.2_Silent_p.L55L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 153 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AGAAAGACCTCGAGAAAGCCA 0.443000 6 42 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933376 48933376 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:48933376G>C ENST00000356463.3 - 9 994 c.556C>G c.(556-558)Cca>Gca p.P186A WDR45_ENST00000322995.8_Missense_Mutation_p.P196A|WDR45_ENST00000473974.1_Missense_Mutation_p.P185A|WDR45_ENST00000376372.3_Missense_Mutation_p.P185A|WDR45_ENST00000376368.2_Missense_Mutation_p.P186A|WDR45_ENST00000553851.1_Missense_Mutation_p.P83A|AF196779.12_ENST00000376358.3_Missense_Mutation_p.P83A|WDR45_ENST00000396681.4_Missense_Mutation_p.P185A|WDR45_ENST00000485908.1_Missense_Mutation_p.P150A NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 185 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 ATCGTGAATGGAGCAGACGAG 0.572000 10 5 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824179 54824179 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:54824179G>C ENST00000243911.2 + 1 392 c.280G>C c.(280-282)Gag>Cag p.E94Q NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 131 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CAATGCCCTGGAGACCATCAT 0.562000 10 46 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31418327 31418327 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:31418327C>T ENST00000373747.3 - 18 2962 c.2863G>A c.(2863-2865)Gag>Aag p.E955K PUM1_ENST00000426105.2_Missense_Mutation_p.E954K|PUM1_ENST00000257075.5_Missense_Mutation_p.E952K|PUM1_ENST00000440538.2_Missense_Mutation_p.E928K|PUM1_ENST00000373742.2_Missense_Mutation_p.E893K|PUM1_ENST00000423018.2_Missense_Mutation_p.E810K|PUM1_ENST00000424085.2_Missense_Mutation_p.E710K|PUM1_ENST00000373741.4_Missense_Mutation_p.E990K NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 952 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CGAACCATCTCATTCTAATGG 0.418000 7 33 0 0 1 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012139 51012139 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:51012139G>A ENST00000261854.5 - 14 1760 c.1486C>T c.(1486-1488)Cag>Tag p.Q496* NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 496 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) GCACATACCTGATAGCTGTTA 0.393000 12 48 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30386222 30386222 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:30386222G>A ENST00000340513.4 + 18 2636 c.2108G>A c.(2107-2109)aGa>aAa p.R703K TPX2_ENST00000300403.6_Missense_Mutation_p.R667K Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 667 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ACTGAGAAGAGAGCCAAAGAG 0.502000 5 84 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180790 142180790 + RNA SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:142180790G>A ENST00000390368.2 - 0 134 GGGTCTGAGTGACACCAGCAT 0.527000 12 141 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44585289 44585289 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:44585289C>T ENST00000421176.3 + 3 353 c.137C>T c.(136-138)tCa>tTa p.S46L ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) AACCTGCTATCAGTGGGTGAG 0.517000 51 91 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65944344 65944344 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:65944344C>T ENST00000321892.4 + 25 8287 c.8226C>T c.(8224-8226)ttC>ttT p.F2742F BPTF_ENST00000424123.3_Silent_p.F2460F|BPTF_ENST00000335221.5_Silent_p.F2599F|BPTF_ENST00000306378.6_Silent_p.F2616F Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2742 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTCTGCTCTTCAAGCACAAAG 0.473000 8 23 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161160158 161160158 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:161160158G>A ENST00000308192.9 + 16 1999 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 646 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGTGAATCTCGAACCGCATGT 0.488000 14 102 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41347448 41347448 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:41347448C>T ENST00000361937.3 - 18 2609 c.2185G>A c.(2185-2187)Gag>Aag p.E729K INO80_ENST00000401393.3_Missense_Mutation_p.E729K Q9ULG1 INO80_HUMAN INO80 complex subunit 729 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TACTCACTCTCATCAATAGCA 0.348000 13 93 0 0 1 0 0 SKA3 221150 broad.mit.edu 37 13 21732242 21732242 + Nonsense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:21732242G>C ENST00000314759.5 - 7 1062 c.938C>G c.(937-939)tCa>tGa p.S313* SKA3_ENST00000400018.3_Nonsense_Mutation_p.S313* NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 313 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 ATTTGTTTTTGATAATGGGTA 0.269000 7 75 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204403032 204403032 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:204403032G>A ENST00000367187.3 - 26 4288 c.3732C>T c.(3730-3732)atC>atT p.I1244I PIK3C2B_ENST00000424712.2_Silent_p.I1216I|RP11-739N20.2_ENST00000443515.1_RNA NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1244 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CACCCCCGTTGATGACATACG 0.552000 10 74 0 0 1 0 0 SKA3 221150 broad.mit.edu 37 13 21732131 21732131 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:21732131G>A ENST00000314759.5 - 7 1173 c.1049C>T c.(1048-1050)tCt>tTt p.S350F SKA3_ENST00000400018.3_Missense_Mutation_p.S350F NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 350 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CTCATAAGAAGAAATCGTAGG 0.348000 22 119 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44441526 44441526 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:44441526C>G ENST00000291547.5 + 8 1045 c.834C>G c.(832-834)ctC>ctG p.L278L PKNOX1_ENST00000432907.2_Silent_p.L161L NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 278 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GGTCCTGGCTCTTCCAGCACA 0.542000 4 55 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42317422 42317422 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:42317422C>T ENST00000342228.3 - 5 974 c.605G>A c.(604-606)gGa>gAa p.G202E SLC20A2_ENST00000520179.1_Missense_Mutation_p.G202E|SLC20A2_ENST00000520262.1_Missense_Mutation_p.G202E NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 202 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACCTGGTGCTCCTGTGTACAT 0.473000 5 34 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150421320 150421320 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:150421320C>T ENST00000295910.6 - 1 418 c.366G>A c.(364-366)ccG>ccA p.P122P FAM194A_ENST00000491361.1_Intron NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 122 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCTTGCGCTCGGCGTTTCAG 0.657000 4 25 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65129433 65129433 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:65129433C>G ENST00000371073.2 + 14 2007 c.2007C>G c.(2005-2007)ctC>ctG p.L669L CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.L618L Q5VU97 CAHD1_HUMAN cache domain containing 1 669 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ATGAGCACCTCAGCCAGCCAG 0.547000 18 102 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045403 47045403 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:47045403G>A ENST00000450053.3 + 36 5997 c.5818G>A c.(5818-5820)Gag>Aag p.E1940K NBEAL2_ENST00000383740.2_Missense_Mutation_p.E219K|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1756K NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1940 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) AGGGCTGCTGGAGGTCACCAC 0.607000 17 29 0 0 1 0 0 KCNK3 3777 broad.mit.edu 37 2 26950840 26950840 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:26950840C>T ENST00000302909.3 + 2 714 c.589C>T c.(589-591)Ctc>Ttc p.L197F NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 197 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCATCACCCTCACCACCAT 0.607000 19 31 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54921408 54921408 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:54921408G>A ENST00000284061.3 + 3 673 c.493G>A c.(493-495)Gat>Aat p.D165N DGKE_ENST00000576869.1_3'UTR NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 165 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) AACAGTACATGATGAGTGCAT 0.313000 8 46 0 0 1 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13067699 13067699 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:13067699C>T ENST00000316939.1 - 1 351 c.328G>A c.(328-330)Gaa>Aaa p.E110K NM_052850.3 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 110 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 TTCTGCTCTTCGGCCAGCTGC 0.697000 18 38 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38447392 38447392 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:38447392C>G ENST00000209728.4 + 3 732 c.261C>G c.(259-261)caC>caG p.H87Q NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 87 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 GTCCCCCTCACTCACATACAC 0.413000 25 48 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217170 244217170 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:244217170C>T ENST00000358704.4 + 2 243 c.94C>T c.(94-96)Ctt>Ttt p.L32F NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 p.F22fs*2(1) CCAGGGTTTTCTTTGTGACTG 0.493000 7 31 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447070 49447070 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:49447070C>T ENST00000301067.7 - 7 873 c.874G>A c.(874-876)Gag>Aag p.E292K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCACACGTCTCACAAACCAAC 0.458000 11 65 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171258002 171258002 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:171258002C>A ENST00000334231.6 + 18 1957 c.1957C>A c.(1957-1959)Ctg>Atg p.L653M MYO3B_ENST00000408978.4_Missense_Mutation_p.L644M|MYO3B_ENST00000409044.3_Missense_Mutation_p.L644M|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 644 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity p.L644M(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGCCTCTGTTCTGTGCATTAG 0.517000 3 27 0.115264 0.115479 1 1 0 GIT1 28964 broad.mit.edu 37 17 27908782 27908782 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:27908782G>A ENST00000225394.3 - 6 944 c.696C>T c.(694-696)ttC>ttT p.F232F RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.F232F|GIT1_ENST00000581348.1_Silent_p.F232F|GIT1_ENST00000579937.1_Silent_p.F232F NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 232 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) CACAGAGGTAGAAGGCCAGCC 0.667000 6 31 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761441 27761441 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:27761441C>T ENST00000261588.4 + 16 3179 c.3160C>T c.(3160-3162)Cgg>Tgg p.R1054W NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1054 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CCCCTTCACGCGGGGCAGATC 0.552000 12 57 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170841451 170841451 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:170841451C>G ENST00000436636.2 - 18 2398 c.2054G>C c.(2053-2055)aGa>aCa p.R685T TNIK_ENST00000460047.1_Missense_Mutation_p.R630T|TNIK_ENST00000488470.1_Missense_Mutation_p.R630T|TNIK_ENST00000369326.5_Missense_Mutation_p.R656T|TNIK_ENST00000475336.1_Missense_Mutation_p.R601T|TNIK_ENST00000284483.8_Missense_Mutation_p.R685T|TNIK_ENST00000470834.1_Missense_Mutation_p.R656T|TNIK_ENST00000357327.5_Missense_Mutation_p.R656T|TNIK_ENST00000538048.1_Missense_Mutation_p.R630T|TNIK_ENST00000341852.6_Missense_Mutation_p.R601T NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 685 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AGAATTCTTTCTGGCTAATGC 0.428000 4 15 0 0 1 0 0 C10orf32-ASMT 100528007 broad.mit.edu 37 10 104632204 104632204 + Splice_Site SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:104632204G>T ENST00000299353.6 + 8 513 c.e8-1 AS3MT_ENST00000369880.3_Splice_Site CCATTTCCCAGATATTATGGC 0.448000 16 47 1.15088e-07 1.19301e-07 1 1 0 VCAM1 7412 broad.mit.edu 37 1 101200147 101200147 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:101200147G>A ENST00000294728.2 + 8 1983 c.1882G>A c.(1882-1884)Gtt>Att p.V628I VCAM1_ENST00000370119.4_Missense_Mutation_p.V566I|VCAM1_ENST00000370115.1_Missense_Mutation_p.V429I|VCAM1_ENST00000347652.2_Missense_Mutation_p.V536I NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 628 Ig-like C2-type 7. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATGTGGAAATGTTCCAGAAAC 0.403000 14 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659208 179659208 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:179659208C>G ENST00000589042.1 - 8 1540 c.1316G>C c.(1315-1317)aGa>aCa p.R439T TTN_ENST00000591111.1_Missense_Mutation_p.R439T|TTN_ENST00000360870.5_Missense_Mutation_p.R439T|TTN_ENST00000359218.5_Missense_Mutation_p.R439T|TTN_ENST00000460472.2_Missense_Mutation_p.R439T|TTN_ENST00000342175.6_Missense_Mutation_p.R439T|TTN_ENST00000342992.6_Missense_Mutation_p.R439T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 439 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTGGTTCTCTCACTCTGGC 0.498000 21 91 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 45 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10789861 10789861 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:10789861G>A ENST00000449870.1 + 7 1057 c.740G>A c.(739-741)cGa>cAa p.R247Q ILF3_ENST00000588657.1_Missense_Mutation_p.R247Q|ILF3_ENST00000250241.8_Missense_Mutation_p.R247Q|ILF3_ENST00000592763.1_Missense_Mutation_p.R247Q|ILF3_ENST00000420083.1_Missense_Mutation_p.R247Q|ILF3_ENST00000589998.1_Missense_Mutation_p.R247Q|ILF3_ENST00000407004.3_Missense_Mutation_p.R247Q|ILF3_ENST00000590261.1_Missense_Mutation_p.R247Q|ILF3_ENST00000318511.3_Missense_Mutation_p.R247Q NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 247 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGTCCCCTCCGAGGCTGGGTA 0.597000 8 38 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75182954 75182954 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:75182954G>A ENST00000352410.4 + 2 170 c.103G>A c.(103-105)Gat>Aat p.D35N MPI_ENST00000563422.1_Missense_Mutation_p.D35N|MPI_ENST00000565576.1_Missense_Mutation_p.D35N|MPI_ENST00000564003.1_Intron|MPI_ENST00000566377.1_Missense_Mutation_p.D35N|MPI_ENST00000323744.6_Missense_Mutation_p.D35N|MPI_ENST00000562606.1_Missense_Mutation_p.D15N|MPI_ENST00000535694.1_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.D15N P34949 MPI_HUMAN mannose phosphate isomerase 35 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GGCCAGCAGTGATCCACTGGC 0.597000 36 77 0 0 1 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54708240 54708240 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:54708240C>G ENST00000355221.3 - 8 1342 c.783G>C c.(781-783)gaG>gaC p.E261D ATP6V1H_ENST00000520188.1_Missense_Mutation_p.E239D|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.E279D|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.E279D NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 279 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TTGTTACTTTCTCTTTGACAG 0.393000 31 69 0 0 1 0 0 EFCAB1 79645 broad.mit.edu 37 8 49643119 49643119 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:49643119G>A ENST00000433756.1 - 2 302 c.143C>T c.(142-144)tCt>tTt p.S48F EFCAB1_ENST00000523092.1_Missense_Mutation_p.S48F|EFCAB1_ENST00000262103.3_Missense_Mutation_p.S100F|EFCAB1_ENST00000521002.1_Intron NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 100 calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TTCTTCCAAAGATCCTCGAAG 0.348000 12 18 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101853618 101853618 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:101853618C>T ENST00000348070.1 - 21 2658 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K PCSK6_ENST00000358417.3_Missense_Mutation_p.E874K|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 888 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGCATCTCTTCTGGGTAGAAG 0.592000 12 71 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37441047 37441047 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:37441047G>A ENST00000374660.1 + 12 1636 c.1537G>A c.(1537-1539)Gag>Aag p.E513K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E513K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E513K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 569 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTGGGATTCTGAGGTACTATG 0.328000 18 95 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29853396 29853396 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:29853396G>A ENST00000357402.5 + 10 1735 c.1597G>A c.(1597-1599)Gat>Aat p.D533N MVP_ENST00000395353.1_Missense_Mutation_p.D533N NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 533 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CGAAACGGCGGATCATGCCAG 0.622000 6 30 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536210 30536210 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:30536210G>A ENST00000380412.5 - 2 1426 c.1251C>T c.(1249-1251)atC>atT p.I417I ZNF768_ENST00000562803.1_Silent_p.I386I NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 417 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GGGCATGGGGGATAAGGGCCG 0.672000 11 25 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411627 43411627 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43411627C>G ENST00000310826.5 - 3 2761 c.2578G>C c.(2578-2580)Gat>Cat p.D860H ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Missense_Mutation_p.D860H|ZBTB21_ENST00000398511.3_Missense_Mutation_p.D860H|ZBTB21_ENST00000398505.3_Missense_Mutation_p.D659H NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CAAGAGGAATCTTCCGAGTCG 0.488000 24 108 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102566244 102566244 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:102566244G>A ENST00000370296.2 + 7 1293 c.743G>A c.(742-744)cGg>cAg p.R248Q PAX2_ENST00000556085.1_Missense_Mutation_p.R224Q|PAX2_ENST00000428433.1_Missense_Mutation_p.R248Q|PAX2_ENST00000361791.3_Missense_Mutation_p.R225Q|PAX2_ENST00000355243.3_Missense_Mutation_p.R225Q|PAX2_ENST00000553492.1_3'UTR Q02962 PAX2_HUMAN paired box 2 248 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GACAGTTTGCGGAAGCACTTG 0.582000 62 160 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043980 25043980 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr14:25043980C>T ENST00000216336.2 - 3 276 c.240G>A c.(238-240)caG>caA p.Q80Q NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 80 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) TTTCCCGTCTCTGGATATTGT 0.537000 31 48 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101395550 101395550 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:101395550C>T ENST00000312938.4 - 1 789 c.209G>A c.(208-210)cGa>cAa p.R70Q ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11-AS1_ENST00000609682.1_RNA NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GTCCCGGCGTCGCTCCGGCTG 0.692000 5 9 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7766894 7766894 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:7766894G>A ENST00000338316.4 + 17 2278 c.2189G>A c.(2188-2190)cGt>cAt p.R730H ADCY2_ENST00000537121.1_Missense_Mutation_p.R550H NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 730 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GCGATTCTGCGTGCGCAGAAT 0.428000 68 82 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411159 43411159 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:43411159C>T ENST00000310826.5 - 3 3229 c.3046G>A c.(3046-3048)Gaa>Aaa p.E1016K ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1016K|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1016K|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E815K NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 AACAGTTTTTCTGTGGCTGGA 0.522000 4 79 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25936900 25936900 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:25936900C>G ENST00000356865.6 - 15 3238 c.3127G>C c.(3127-3129)Gat>Cat p.D1043H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1043 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ACACCCACATCTGCCACCTGG 0.478000 44 104 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106401696 106401696 + Nonsense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:106401696C>A ENST00000369701.3 + 1 838 c.611C>A c.(610-612)tCg>tAg p.S204* NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 204 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGCACTGGTCGGGACACAAC 0.697000 6 8 0.00198382 0.00200997 1 1 0 URGCP 55665 broad.mit.edu 37 7 43916401 43916401 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:43916401G>A ENST00000336086.6 - 4 4768 c.2532C>T c.(2530-2532)ccC>ccT p.P844P URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Silent_p.P887P|URGCP_ENST00000443736.1_Silent_p.P844P|URGCP_ENST00000447717.3_Silent_p.P844P|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.P844P|URGCP_ENST00000402306.3_Silent_p.P878P Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 887 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTGCGGCCATGGGAGGTGCTC 0.562000 12 81 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41206690 41206690 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:41206690G>A ENST00000399959.2 + 16 2750 c.1895G>A c.(1894-1896)aGa>aAa p.R632K DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R616K NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 632 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding p.R632I(1) NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 ggtagcagcagAGGATTTGGT 0.493000 HNSCC(61;0.18) 20 43 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42818480 42818480 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:42818480C>T ENST00000598766.1 + 2 177 c.177C>T c.(175-177)ttC>ttT p.F59F TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000301204.3_Silent_p.F59F Q8NBT3 TM145_HUMAN transmembrane protein 145 59 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GACTGGACTTCCGTTTCCGCT 0.587000 29 129 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131370491 131370491 + Nonsense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:131370491C>G ENST00000372739.3 + 34 4537 c.4427C>G c.(4426-4428)tCa>tGa p.S1476* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.S1476*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1476* NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1476 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AAAGGAGACTCACTGGACAGC 0.517000 88 77 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47863887 47863887 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:47863887C>T ENST00000396105.1 - 14 5920 c.5674G>A c.(5674-5676)Gaa>Aaa p.E1892K ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1892K|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1892 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCATCCATTTCAGAAGCAAGC 0.522000 32 57 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42600451 42600451 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:42600451C>G ENST00000372901.1 + 12 1701 c.1443C>G c.(1441-1443)ctC>ctG p.L481L UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372899.1_Silent_p.L481L Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 481 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTTTAGATCTCAAGTAAGTTT 0.338000 24 58 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35068335 35068335 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:35068335C>T ENST00000382002.5 - 9 1264 c.838G>A c.(838-840)Gat>Aat p.D280N PRLR_ENST00000513753.1_Missense_Mutation_p.D280N|PRLR_ENST00000231423.3_Missense_Mutation_p.D280N|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.D280N|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.D280N|PRLR_ENST00000342362.5_Missense_Mutation_p.D179N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.D179N NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 280 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGATGAGCATCAAATCCTTTT 0.418000 11 91 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186645813 186645813 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:186645813G>C ENST00000367468.5 - 7 892 c.756C>G c.(754-756)gtC>gtG p.V252V PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 252 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAGTATCTTTGACTGTGGGAG 0.393000 249 47 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5115713 5115713 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:5115713C>T ENST00000315997.5 - 1 398 c.197G>A c.(196-198)cGa>cAa p.R66Q ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.R104Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.R66Q|C16orf89_ENST00000350219.4_Missense_Mutation_p.R104Q|C16orf89_ENST00000474471.3_Missense_Mutation_p.R66Q NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 66 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 TTCCAGCACTCGGACCCCCAC 0.602000 3 33 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38103836 38103836 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:38103836G>C ENST00000308059.6 + 4 871 c.850G>C c.(850-852)Gaa>Caa p.E284Q DLEC1_ENST00000452631.2_Missense_Mutation_p.E284Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.E284Q Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 284 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TAAGGCCAAAGAAAGGACCAG 0.493000 6 32 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609123 115609123 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:115609123C>G ENST00000361384.2 - 2 2658 c.1741G>C c.(1741-1743)Gaa>Caa p.E581Q DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E581Q NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 581 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TTTATCCCTTCTAATGCACTT 0.383000 Other identified genes with known or suspected DNA repair function 24 157 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102667764 102667764 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:102667764C>T ENST00000315274.6 - 3 547 c.480G>A c.(478-480)atG>atA p.M160I WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 160 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CAAAAGATATCATGATGTCTG 0.453000 8 40 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60087984 60087984 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:60087984G>C ENST00000397786.2 - 9 1970 c.1894C>G c.(1894-1896)Caa>Gaa p.Q632E NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 632 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTGGAAGTTGAGGTGGTAAA 0.353000 17 36 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933037 48933037 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:48933037G>C ENST00000356463.3 - 10 1254 c.816C>G c.(814-816)ctC>ctG p.L272L WDR45_ENST00000322995.8_Silent_p.L282L|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000376372.3_Silent_p.L271L|WDR45_ENST00000376368.2_Silent_p.L272L|WDR45_ENST00000553851.1_Silent_p.L169L|AF196779.12_ENST00000376358.3_Silent_p.L169L|WDR45_ENST00000396681.4_Silent_p.L257L|WDR45_ENST00000485908.1_Silent_p.L236L NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 271 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 AGCGGCGGTTGAGGCGGGTAT 0.577000 8 1 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19318606 19318606 + Nonsense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:19318606C>G ENST00000461366.1 + 12 1519 c.1304C>G c.(1303-1305)tCa>tGa p.S435* NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 435 GTP binding|GTPase activity|zinc ion binding p.S436*(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CAGAACCTCTCAGGATGGATG 0.627000 11 12 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33439223 33439223 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:33439223G>A ENST00000305768.5 - 5 632 c.544C>T c.(544-546)Caa>Taa p.Q182* CEP89_ENST00000590597.2_Nonsense_Mutation_p.Q182* NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 AACCCATCTTGATGAGAAATA 0.353000 7 42 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478148 42478148 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:42478148C>T ENST00000434000.1 - 9 1345 c.1063G>A c.(1063-1065)Gag>Aag p.E355K GPATCH8_ENST00000591680.1_Missense_Mutation_p.E433K Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 433 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TTTTTACTCTCTGGGGCATTC 0.443000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 141 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123426708 123426708 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:123426708G>A ENST00000360772.3 - 17 2661 c.2283C>T c.(2281-2283)ctC>ctT p.L761L MYLK_ENST00000360304.3_Silent_p.L761L|MYLK_ENST00000359169.1_Silent_p.L761L|MYLK_ENST00000475616.1_Silent_p.L761L|MYLK_ENST00000346322.5_Silent_p.L692L Q15746 MYLK_HUMAN myosin light chain kinase 761 Ig-like C2-type 6. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGTCTTTGCAGAGGGCTTTGC 0.582000 20 55 0 0 1 0 0 TYMP 1890 broad.mit.edu 37 22 50967977 50967977 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:50967977G>C ENST00000252029.3 - 2 324 c.162C>G c.(160-162)atC>atG p.I54M TYMP_ENST00000395680.1_Missense_Mutation_p.I54M|TYMP_ENST00000395678.3_Missense_Mutation_p.I54M|TYMP_ENST00000395681.1_Missense_Mutation_p.I54M NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4 NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1 P19971 TYPH_HUMAN thymidine phosphorylase 54 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) CGAAGCCCCTGATGTCCGCTT 0.682000 21 48 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35378951 35378951 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:35378951C>T ENST00000311565.4 + 4 436 c.87C>T c.(85-87)ctC>ctT p.L29L PPARD_ENST00000360694.3_Silent_p.L29L|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000418635.2_Silent_p.L29L|PPARD_ENST00000444397.1_Silent_p.L29L|PPARD_ENST00000337400.2_Silent_p.L29L|PPARD_ENST00000448077.2_Intron NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 29 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CCCCAGAGCTCAATGGGGGAC 0.627000 8 39 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52811720 52811720 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:52811720C>T ENST00000273283.2 + 1 113 c.89C>T c.(88-90)tCg>tTg p.S30L ITIH1_ENST00000542827.1_Missense_Mutation_p.S30L NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 30 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GCCCTGGGCTCGGCTACAGGC 0.622000 4 25 0 0 1 0 0 POP4 10775 broad.mit.edu 37 19 30106176 30106176 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:30106176C>T ENST00000585603.1 + 7 2854 c.552C>T c.(550-552)ttC>ttT p.F184F POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_Silent_p.F60F|POP4_ENST00000392279.3_Silent_p.F103F O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 184 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) ACTGCGTGTTCACTGTGGAAA 0.373000 6 30 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35210538 35210538 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:35210538C>A ENST00000156471.5 - 15 1488 c.1263G>T c.(1261-1263)ttG>ttT p.L421F NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 421 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GCATCTGGTTCAACTGCTGAA 0.353000 11 29 1.58986e-06 1.64174e-06 1 1 0 BIRC5 332 broad.mit.edu 37 17 76212803 76212803 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:76212803G>A ENST00000301633.4 + 4 480 c.349G>A c.(349-351)Gaa>Aaa p.E117K BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Missense_Mutation_p.S265L|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_Missense_Mutation_p.E94K NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 94 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) GAAGCAGTTTGAAGAATTAAC 0.398000 15 85 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62334357 62334357 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:62334357C>T ENST00000378019.3 - 7 1018 c.928G>A c.(928-930)Gag>Aag p.E310K MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.E260K P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 260 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ATCTCCTCCTCAGGAGCAGGG 0.582000 16 57 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14513431 14513431 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:14513431C>G ENST00000242786.5 + 12 1286 c.1206C>G c.(1204-1206)ctC>ctG p.L402L CD97_ENST00000357355.3_Silent_p.L353L|CD97_ENST00000358600.3_Silent_p.L309L NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 402 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CGGGCATCCTCTCCATCCAGA 0.577000 31 59 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089752 9089752 + Nonsense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:9089752G>C ENST00000397910.4 - 1 2266 c.2063C>G c.(2062-2064)tCa>tGa p.S688* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 688 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGAAAGCTGAGGACTGTAG 0.507000 14 74 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886324 57886324 + Missense_Mutation SNP A A G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:57886324A>G ENST00000302610.1 - 1 592 c.593T>C c.(592-594)gTc>gCc p.V198A OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GAAGATGATGACAATCTCGAT 0.438000 6 36 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11416215 11416215 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:11416215G>C ENST00000423059.4 - 27 5122 c.4871C>G c.(4870-4872)tCc>tGc p.S1624C AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATAAATCATGGAGACAATAAA 0.333000 HNSCC(18;0.044) 3 10 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145323654 145323654 + Splice_Site SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:145323654G>A ENST00000342960.5 + 27 3526 c.3491G>A c.(3490-3492)aGa>aAa p.R1164K NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1164 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGTATTGCAGGAATTAAAAAG 0.468000 22 584 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186171 37186171 + RNA SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:37186171C>T ENST00000425901.2 + 0 13 NR_033753.2 GCTCAGCATTCAGATTTGCCC 0.522000 8 29 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355600 45355600 + Silent SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:45355600C>A ENST00000359271.2 + 3 1636 c.1386C>A c.(1384-1386)atC>atA p.I462I NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 462 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) ACCTCTTCATCAGCCTCTCCT 0.507000 14 133 0.0285812 0.0287415 1 1 0 PREPL 9581 broad.mit.edu 37 2 44548524 44548524 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:44548524C>T ENST00000541738.1 - 14 2274 c.1888G>A c.(1888-1890)Gag>Aag p.E630K PREPL_ENST00000378511.3_Missense_Mutation_p.E657K|PREPL_ENST00000409957.1_Missense_Mutation_p.E630K|PREPL_ENST00000378520.3_Missense_Mutation_p.E653K|PREPL_ENST00000409411.1_Missense_Mutation_p.E630K|SLC3A1_ENST00000260649.6_3'UTR|PREPL_ENST00000260648.6_Missense_Mutation_p.E719K|PREPL_ENST00000409936.1_Missense_Mutation_p.E719K|PREPL_ENST00000410081.1_Missense_Mutation_p.E719K|PREPL_ENST00000409272.1_Missense_Mutation_p.E719K NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 719 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTAAGATCCTCGAAAACACTG 0.343000 14 28 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618697 134618697 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:134618697G>A ENST00000361675.2 + 5 1406 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K CALD1_ENST00000361388.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron Q05682 CALD1_HUMAN caldesmon 1 393 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CAAGCAGCTAGAAGAGAAAAA 0.433000 6 40 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160922432 160922432 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:160922432C>T ENST00000368029.3 - 3 228 c.171G>A c.(169-171)aaG>aaA p.K57K NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 57 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGCAGCGTTCCTTGATTTCTT 0.468000 221 45 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101819 82101819 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:82101819G>A ENST00000199936.4 + 2 503 c.310G>A c.(310-312)Gag>Aag p.E104K RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 104 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GTATCTGGATGAGCTGGGCTT 0.532000 27 54 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388258 48388258 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:48388258C>T ENST00000224600.4 - 1 2733 c.2620G>A c.(2620-2622)Gga>Aga p.G874R NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 874 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGTGCGCCTCCGGCCGTGGGC 0.642000 12 19 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472852 123472852 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:123472852C>T ENST00000280562.5 - 19 3113 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K PITPNM2_ENST00000392428.1_Missense_Mutation_p.E697K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E976K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E976K Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) ACCGACACTTCCTTGCCATCC 0.657000 29 100 0 0 1 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33855053 33855053 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:33855053C>G ENST00000307296.3 + 3 644 c.267C>G c.(265-267)atC>atG p.I89M PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I89M Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 89 BRO1. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CTATCCAGATCTGCTTGACAT 0.318000 40 118 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72193558 72193558 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:72193558G>C ENST00000356056.5 - 23 3596 c.3124C>G c.(3124-3126)Ctg>Gtg p.L1042V MYO9A_ENST00000566885.1_Missense_Mutation_p.L662V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1023V|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1042V|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1042V NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1042 IQ 2.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCTTGTCTCAGATGGAGGAAA 0.428000 7 46 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28060584 28060584 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:28060584G>A ENST00000373954.6 + 4 346 c.244G>A c.(244-246)Ggg>Agg p.G82R FAM76A_ENST00000373949.1_Missense_Mutation_p.G82R|FAM76A_ENST00000010299.6_Missense_Mutation_p.G116R|FAM76A_ENST00000530324.1_Missense_Mutation_p.G82R|FAM76A_ENST00000234549.7_Missense_Mutation_p.G116R|FAM76A_ENST00000419687.2_Intron NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 82 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) AGCATTTATTGGGAATAAATG 0.383000 11 39 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145617176 145617176 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:145617176G>C ENST00000308860.6 + 10 1094 c.1050G>C c.(1048-1050)caG>caC p.Q350H NM_174922.3 NP_777582.4 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 350 Protein kinase. integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TTGCTGAGCAGATATTTTACA 0.622000 16 100 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98938017 98938017 + Nonsense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:98938017C>T ENST00000556029.1 + 5 1029 c.673C>T c.(673-675)Caa>Taa p.Q225* TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000548223.1_3'UTR NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 225 NAKAP95-binding N.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GAGCTATTCTCAAGCTGGAAT 0.403000 7 43 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046618 73046618 + Missense_Mutation SNP T T G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:73046618T>G ENST00000335350.6 + 5 1141 c.725T>G c.(724-726)aTc>aGc p.I242S UNC5B_ENST00000373192.4_Missense_Mutation_p.I242S NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 242 Ig-like C2-type. I -> V (in dbSNP:rs34957097). apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCCACCGTCATCGTCTACGGT 0.652000 17 91 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100225560 100225560 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:100225560C>G ENST00000462107.1 - 14 1862 c.1575G>C c.(1573-1575)ctG>ctC p.L525L TFR2_ENST00000544242.1_Silent_p.L66L|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.L525L Q9UP52 TFR2_HUMAN transferrin receptor 2 525 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGAGACTTGTCAGAAGGGGGC 0.602000 31 103 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49933757 49933757 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:49933757C>T ENST00000296474.3 - 10 2547 c.2520G>A c.(2518-2520)ggG>ggA p.G840G MST1R_ENST00000344206.4_Silent_p.G840G NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 840 IPT/TIG 3. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding p.G840G(2) cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CACTCAGATTCCCTGCCACCC 0.597000 25 100 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38976798 38976798 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:38976798C>T ENST00000269576.5 - 3 841 c.832G>A c.(832-834)Gaa>Aaa p.E278K TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412 P13645 K1C10_HUMAN keratin 10 278 Coil 1B.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GCCAGCTCTTCAGTCAGGCTC 0.522000 17 105 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55602887 55602887 + Splice_Site SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr4:55602887G>A ENST00000288135.5 + 19 2694 c.2597G>A c.(2596-2598)gGa>gAa p.G866E NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 866 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.G866A(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TGTGTCTCAGGAAGCAGCCCC 0.473000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 42 49 0 0 1 0 0 GABARAP 11337 broad.mit.edu 37 17 7145647 7145647 + Translation_Start_Site SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:7145647C>A ENST00000302386.5 - 1 442 c.3G>T c.(1-3)atG>atT p.M1I GABARAP_ENST00000573928.1_Start_Codon_SNP_p.M1I|CTD-2545G14.7_ENST00000570760.2_Intron NM_007278.1 NP_009209.1 O95166 GBRAP_HUMAN GABA(A) receptor-associated protein 1 Interaction with beta-tubulin. protein targeting|synaptic transmission autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane beta-tubulin binding|GABA receptor binding breast(1)|lung(2) 3 ACACGAACTTCATCCTCCCGG 0.672000 27 18 2.46105e-21 2.62187e-21 1 1 0 THAP11 57215 broad.mit.edu 37 16 67876704 67876704 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:67876704C>T ENST00000303596.1 + 1 492 c.247C>T c.(247-249)Cgc>Tgc p.R83C CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CTTCCCGCTGCGCGGCGTCAA 0.687000 11 18 0 0 1 0 0 ERVW-1 30816 broad.mit.edu 37 7 92099320 92099320 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:92099320C>G ENST00000493463.2 - 1 1299 c.376G>C c.(376-378)Gaa>Caa p.E126Q AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.E126Q|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 126 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 acatgtttttctcttgcctga 0.468000 13 18 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63188709 63188709 + Nonsense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:63188709C>A ENST00000399298.3 - 4 948 c.580G>T c.(580-582)Gag>Tag p.E194* TMEM26_ENST00000399293.1_Nonsense_Mutation_p.E194* NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 194 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TCTAGGGTCTCACTTGTGAAT 0.463000 11 50 0.0692343 0.0694926 1 1 0 FN1 2335 broad.mit.edu 37 2 216230280 216230280 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:216230280C>T ENST00000354785.4 - 43 7461 c.7092G>A c.(7090-7092)atG>atA p.M2364I FN1_ENST00000356005.4_Missense_Mutation_p.M2183I|FN1_ENST00000357867.4_Missense_Mutation_p.M2063I|FN1_ENST00000323926.6_Missense_Mutation_p.M2333I|FN1_ENST00000336916.4_Missense_Mutation_p.M2242I|FN1_ENST00000421182.1_Missense_Mutation_p.M2127I|FN1_ENST00000346544.3_Missense_Mutation_p.M2098I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000446046.1_Missense_Mutation_p.M2217I|FN1_ENST00000443816.1_Missense_Mutation_p.M2152I|FN1_ENST00000359671.1_Missense_Mutation_p.M2273I|FN1_ENST00000432072.2_Missense_Mutation_p.M2154I|FN1_ENST00000345488.5_Missense_Mutation_p.M2071I P02751 FINC_HUMAN fibronectin 1 2273 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCAGCTCATCATCTGGCCAT 0.468000 27 89 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202702748 202702748 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:202702748C>A ENST00000367265.3 - 23 4854 c.3690G>T c.(3688-3690)gaG>gaT p.E1230D KDM5B_ENST00000367264.2_Missense_Mutation_p.E1266D NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1230 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GCAGAATTTTCTCTAATGGAG 0.522000 14 37 3.27435e-08 3.40078e-08 1 1 0 SNORD3A 780851 broad.mit.edu 37 17 19091383 19091383 + RNA SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:19091383G>A ENST00000365494.1 + 0 55 aagtttctctgaacgtgtaga 0.507000 18 265 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234458902 234458902 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:234458902G>C ENST00000366618.3 + 8 1531 c.1386G>C c.(1384-1386)aaG>aaC p.K462N SLC35F3_ENST00000366617.3_Missense_Mutation_p.K393N NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 393 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AAGTGAGGAAGAAGGAGGAGC 0.587000 OREG0014330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 38 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21826114 21826114 + RNA SNP C C G rs144380293 by1000genomes TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:21826114C>G ENST00000426869.3 + 0 297 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) TGACCACACTCCAGCCAAGGA 0.532000 9 38 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356667 37356667 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:37356667C>T ENST00000217420.1 + 2 1226 c.963C>T c.(961-963)atC>atT p.I321I NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 321 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CGTCTCAGATCTTCCTGCCTT 0.577000 12 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441024 179441024 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:179441024G>A ENST00000589042.1 - 326 70059 c.69835C>T c.(69835-69837)Cat>Tat p.H23279Y TTN_ENST00000591111.1_Missense_Mutation_p.H21638Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14339Y|TTN_ENST00000460472.2_Missense_Mutation_p.H14214Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H14406Y|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H20711Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21638 Fibronectin type-III 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTTTTGATGCTCCACGACA 0.443000 3 36 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170870984 170870984 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:170870984G>A ENST00000392092.2 + 3 439 c.160G>A c.(160-162)Gag>Aag p.E54K TBP_ENST00000230354.6_Missense_Mutation_p.E54K|TBP_ENST00000540980.1_Missense_Mutation_p.E34K NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 54 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) TATTTTGGAAGAGCAACAAAG 0.527000 6 64 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045650 47045650 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:47045650G>C ENST00000450053.3 + 37 6144 c.5965G>C c.(5965-5967)Gag>Cag p.E1989Q NBEAL2_ENST00000383740.2_Missense_Mutation_p.E268Q|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1805Q NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1989 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TTCAGCACTTGAGCTCTTCTT 0.597000 59 215 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88891179 88891179 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:88891179C>T ENST00000268695.5 - 11 1326 c.1238G>A c.(1237-1239)aGa>aAa p.R413K GALNS_ENST00000542788.1_Missense_Mutation_p.R338K NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 413 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CTGTACCTGTCTGAAGTTCTC 0.642000 9 89 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149494390 149494390 + RNA SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:149494390C>G ENST00000378016.2 + 0 6861 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGGCCCTCTCCTCTGCCC 0.667000 12 51 0 0 1 0 0 SLC46A2 57864 broad.mit.edu 37 9 115652371 115652371 + Missense_Mutation SNP C C G rs111991367 byFrequency TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:115652371C>G ENST00000374228.4 - 1 822 c.591G>C c.(589-591)caG>caC p.Q197H NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 197 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 GCCCAGCCATCTGCTTGAAGA 0.632000 26 11 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21209161 21209161 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:21209161G>T ENST00000574002.1 - 19 2503 c.2021C>A c.(2020-2022)tCa>tAa p.S674* AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.S674*|ZP2_ENST00000574091.1_Nonsense_Mutation_p.S665* Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 674 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TAGATCAGATGAGCCGACACC 0.483000 13 64 0.00010058 0.000102679 1 1 0 NUP205 23165 broad.mit.edu 37 7 135329713 135329713 + Missense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:135329713G>T ENST00000285968.6 + 40 5656 c.5630G>T c.(5629-5631)cGg>cTg p.R1877L NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1877 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CTAGCAAGACGGCGCTTGGTG 0.393000 OREG0018343 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 129 3.07112e-06 3.16525e-06 1 1 0 KIDINS220 57498 broad.mit.edu 37 2 8870985 8870985 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:8870985C>G ENST00000256707.3 - 30 5362 c.5181G>C c.(5179-5181)gaG>gaC p.E1727D KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1628D|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1708D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1708D NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1727 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTTTTAGATTCTCATTCTGAA 0.463000 38 60 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47976001 47976001 + Silent SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr21:47976001G>T ENST00000318711.7 + 29 3681 c.3498G>T c.(3496-3498)gtG>gtT p.V1166V DIP2A_ENST00000427143.2_Silent_p.V1101V|DIP2A_ENST00000417564.2_Silent_p.V1165V|DIP2A_ENST00000400274.1_Silent_p.V1161V NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1165 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TAGCGGGAGTGAAGGTAGGTC 0.493000 20 66 4.63292e-17 4.9162e-17 1 1 0 ZNF131 7690 broad.mit.edu 37 5 43174936 43174936 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:43174936C>G ENST00000509634.1 + 7 1927 c.1471C>G c.(1471-1473)Cta>Gta p.L491V ZNF131_ENST00000306938.4_Missense_Mutation_p.L491V|ZNF131_ENST00000509156.1_Missense_Mutation_p.L525V|ZNF131_ENST00000505606.2_Missense_Mutation_p.L491V|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.L525V P52739 ZN131_HUMAN zinc finger protein 131 525 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 AGTGAGTTATCTAGAAGTGGG 0.483000 10 40 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153762290 153762290 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:153762290C>G ENST00000393562.2 - 7 1203 c.820G>C c.(820-822)Gag>Cag p.E274Q G6PD_ENST00000393564.2_Missense_Mutation_p.E244Q|G6PD_ENST00000369620.2_Missense_Mutation_p.E244Q NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 244 E -> K (in Corum; class I). cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGCGACCCTCAGTGCCAAAG 0.597000 30 22 0 0 1 0 0 DDX55 57696 broad.mit.edu 37 12 124102337 124102337 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:124102337G>A ENST00000238146.4 + 11 1132 c.1082G>A c.(1081-1083)cGc>cAc p.R361H DDX55_ENST00000538744.1_Missense_Mutation_p.R330H|DDX55_ENST00000541259.1_Intron NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 361 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) CGCACAGCTCGCATTGGCCAC 0.552000 3 56 0 0 1 0 0 B4GALT7 11285 broad.mit.edu 37 5 177031540 177031540 + Silent SNP C C T rs142951817 byFrequency TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:177031540C>T ENST00000029410.5 + 2 522 c.411C>T c.(409-411)ttC>ttT p.F137F NM_007255.2 NP_009186.1 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 137 fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 7 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGACCACTTCAGGTAGCGCC 0.682000 26 24 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30942385 30942385 + Silent SNP T T C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:30942385T>C ENST00000597505.1 - 23 3230 c.3231A>G c.(3229-3231)gaA>gaG p.E1077E DCDC1_ENST00000339794.5_Silent_p.E156E|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTTCTTCCGGTTCTGTAACTT 0.413000 21 36 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12984453 12984453 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:12984453C>T ENST00000251472.4 + 26 3521 c.3482C>T c.(3481-3483)tCg>tTg p.S1161L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1161 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCCCCAGCCTCGAGCACGCCC 0.687000 6 19 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45016173 45016173 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:45016173C>T ENST00000258787.7 - 3 524 c.388G>A c.(388-390)Gag>Aag p.E130K NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 130 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CTCTCCACCTCAGCCCTCTGG 0.612000 23 46 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16021594 16021594 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr8:16021594C>T ENST00000350896.3 - 5 994 c.797G>A c.(796-798)aGa>aAa p.R266K MSR1_ENST00000536385.1_Missense_Mutation_p.R40K|MSR1_ENST00000381998.4_Missense_Mutation_p.R266K|MSR1_ENST00000445506.2_Missense_Mutation_p.R284K|MSR1_ENST00000355282.2_Missense_Mutation_p.R266K|MSR1_ENST00000262101.5_Missense_Mutation_p.R266K NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 266 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AGTGATATTTCTCAAGGTCTG 0.303000 6 27 0 0 1 0 0 STK32A 202374 broad.mit.edu 37 5 146754652 146754652 + Splice_Site SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:146754652G>A ENST00000397936.3 + 11 1236 c.e11-1 STK32A_ENST00000398523.3_Splice_Site NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCTTGCAGAAAGGCAGGC 0.398000 3 9 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55352306 55352306 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:55352306C>G ENST00000536015.1 - 14 1590 c.1471G>C c.(1471-1473)Gag>Cag p.E491Q RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E491Q NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 491 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GGTCTTACCTCTATTTTGTTG 0.493000 8 60 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812606 2812606 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:2812606C>T ENST00000301740.8 + 11 2626 c.2077C>T c.(2077-2079)Cgg>Tgg p.R693W NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 693 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGGGAGGTCTCGGTCTAGGAC 0.572000 14 73 0 0 1 0 0 PLD6 201164 broad.mit.edu 37 17 17106258 17106258 + Silent SNP G G A rs142631639 byFrequency TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:17106258G>A ENST00000321560.3 - 2 610 c.582C>T c.(580-582)taC>taT p.Y194Y RP11-45M22.4_ENST00000427497.3_3'UTR NM_178836.3 NP_849158.2 Q8N2A8 PLD6_HUMAN phospholipase D family, member 6 194 DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development integral to membrane|mitochondrial outer membrane cardiolipin hydrolase activity|protein homodimerization activity endometrium(1)|lung(1) 2 AAAGCCGCACGTACTCGTCGT 0.507000 22 70 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91726366 91726366 + Nonsense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:91726366G>T ENST00000359028.2 + 41 10330 c.10105G>T c.(10105-10107)Gag>Tag p.E3369* AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E3315*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E3365* Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3369 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTGTTAAATGAGACTGAAAA 0.443000 T BRAF papillary thyroid 7 36 5.18039e-06 5.3188e-06 1 1 0 KDM3B 51780 broad.mit.edu 37 5 137766079 137766079 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:137766079G>A ENST00000314358.5 + 22 5235 c.5035G>A c.(5035-5037)Gat>Aat p.D1679N KDM3B_ENST00000394866.1_Missense_Mutation_p.D1335N|KDM3B_ENST00000542866.1_Missense_Mutation_p.D711N NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1679 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GTTCCTAGGTGATGCTGTTTT 0.527000 27 70 0 0 1 0 0 SETD8 387893 broad.mit.edu 37 12 123875224 123875224 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:123875224G>A ENST00000402868.3 + 3 606 c.180G>A c.(178-180)ccG>ccA p.P60P SETD8_ENST00000330479.4_Silent_p.P60P|SETD8_ENST00000478781.2_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 101 Ala-rich. cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACATGAGCCCGAACAAATGCT 0.443000 11 47 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31668686 31668686 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:31668686G>A ENST00000331728.4 + 13 1668 c.1554G>A c.(1552-1554)ctG>ctA p.L518L LIMK2_ENST00000340552.4_Silent_p.L497L|LIMK2_ENST00000444929.2_Silent_p.L272L|LIMK2_ENST00000333611.4_Silent_p.L497L|LIMK2_ENST00000406516.1_Silent_p.L440L|LIMK2_ENST00000467301.1_3'UTR NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 518 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CTGAGATGCTGAACGGTGAGT 0.612000 OREG0026477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237619914 237619914 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:237619914C>T ENST00000366574.2 + 16 1808 c.1491C>T c.(1489-1491)ctC>ctT p.L497L RYR2_ENST00000360064.6_Silent_p.L495L|RYR2_ENST00000542537.1_Silent_p.L481L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 497 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGATCAACCTCGTGCTTGAGT 0.413000 24 32 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884270 39884270 + Silent SNP C C T rs145267339 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:39884270C>T ENST00000341184.6 + 2 1133 c.918C>T c.(916-918)aaC>aaT p.N306N NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 306 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GGCTGCGCAACCTGCGGCCCG 0.677000 52 65 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69716710 69716710 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr10:69716710G>C ENST00000395198.3 - 18 2221 c.1974C>G c.(1972-1974)atC>atG p.I658M HERC4_ENST00000277817.6_Missense_Mutation_p.I548M|HERC4_ENST00000412272.2_Missense_Mutation_p.I658M|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.I650M NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 658 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 GATATGTACAGATTGTAACAG 0.328000 24 101 0 0 1 0 0 PSMB7 5695 broad.mit.edu 37 9 127115946 127115946 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:127115946G>A ENST00000259457.3 - 8 778 c.765C>T c.(763-765)ctC>ctT p.L255L PSMB7_ENST00000498485.1_5'UTR NM_002799.3 NP_002790.1 Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 255 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 TTTTCTCAGTGAGGACTGCAG 0.507000 17 20 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3278776 3278776 + Nonsense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:3278776G>C ENST00000252032.9 - 22 1896 c.1829C>G c.(1828-1830)tCa>tGa p.S610* C20orf194_ENST00000453730.2_Nonsense_Mutation_p.S348*|C20orf194_ENST00000498079.1_5'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 610 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 AGGAAGCAATGAGCTTTTGAA 0.433000 10 52 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38704981 38704981 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:38704981G>A ENST00000359357.3 + 4 504 c.250G>A c.(250-252)Gaa>Aaa p.E84K DNAH8_ENST00000441566.1_Missense_Mutation_p.E84K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E301K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGGAGAATCTGAAAAACATAT 0.318000 25 87 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520048 23520048 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:23520048C>T ENST00000374619.1 - 1 1174 c.665G>A c.(664-666)cGg>cAg p.R222Q HTR1D_ENST00000314113.3_Missense_Mutation_p.R222Q NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 222 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CCGGGCAGCCCGGTAGATCCG 0.592000 5 38 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153209864 153209864 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:153209864C>T ENST00000412763.1 - 2 203 c.34G>A c.(34-36)Gag>Aag p.E12K RENBP_ENST00000369997.3_Missense_Mutation_p.E12K|RENBP_ENST00000393700.3_Missense_Mutation_p.E12K P51606 RENBP_HUMAN renin binding protein 12 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) CGCTCTTTCTCCATGTCCTAG 0.657000 16 38 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32910364 32910364 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr7:32910364C>T ENST00000304056.4 - 4 1164 c.465G>A c.(463-465)atG>atA p.M155I AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 155 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TGTGCTCCACCATTCTTTTAG 0.358000 14 79 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128844787 128844787 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr5:128844787C>G ENST00000274487.4 + 3 892 c.747C>G c.(745-747)ctC>ctG p.L249L CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 249 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TTATACAGCTCAATGAGGACT 0.343000 7 39 0 0 1 0 0 EZR 7430 broad.mit.edu 37 6 159191829 159191829 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:159191829C>T ENST00000367075.3 - 10 1225 c.1057G>A c.(1057-1059)Gac>Aac p.D353N EZR_ENST00000392177.4_Missense_Mutation_p.D321N|EZR_ENST00000337147.7_Missense_Mutation_p.D353N NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 353 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TCCTCATAGTCCTGCAGCCGC 0.552000 T ROS1 NSCLC 11 88 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43658774 43658774 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:43658774C>G ENST00000360835.4 - 5 688 c.562G>C c.(562-564)Gac>Cac p.D188H SCUBE1_ENST00000290460.7_Missense_Mutation_p.D188H NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 EGF-like 4 (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GGCCTGCAGTCGCAGGCCACC 0.572000 15 89 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355597 45355597 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:45355597C>T ENST00000359271.2 + 3 1633 c.1383C>T c.(1381-1383)ttC>ttT p.F461F NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 461 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CCAACCTCTTCATCAGCCTCT 0.522000 15 132 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50592488 50592488 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr18:50592488G>C ENST00000442544.2 + 7 1829 c.1213G>C c.(1213-1215)Gag>Cag p.E405Q DCC_ENST00000412726.1_Missense_Mutation_p.E253Q|DCC_ENST00000581580.1_Missense_Mutation_p.E60Q|DCC_ENST00000580146.1_3'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 405 Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGCTGAAAATGAGGCTGGAAA 0.443000 19 81 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33048612 33048612 + Missense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:33048612G>T ENST00000418931.2 + 2 380 c.264G>T c.(262-264)tgG>tgT p.W88C HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.W88C|HLA-DPB1_ENST00000471184.1_3'UTR NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 88 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CGGAGTACTGGAACAGCCAGA 0.652000 12 61 1.9806e-07 2.04916e-07 1 1 0 GRIN3B 116444 broad.mit.edu 37 19 1004866 1004866 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:1004866C>G ENST00000234389.3 + 3 1385 c.1366C>G c.(1366-1368)Ctg>Gtg p.L456V GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 456 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTCGGCCACCCTGGACGCACT 0.667000 19 90 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68560835 68560835 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:68560835G>A ENST00000265641.5 - 9 1069 c.915C>T c.(913-915)tcC>tcT p.S305S CPT1A_ENST00000539743.1_Silent_p.S305S|CPT1A_ENST00000376618.2_Silent_p.S305S|CPT1A_ENST00000540367.1_Silent_p.S305S|CPT1A_ENST00000538994.1_Silent_p.S57S NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 305 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CCCACTGAGCGGAGCAGAGTG 0.488000 7 76 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554530 52554530 + Missense_Mutation SNP C C A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr3:52554530C>A ENST00000321725.6 + 53 5690 c.5614C>A c.(5614-5616)Cgc>Agc p.R1872S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1872 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) CCTTGGTGCTCGCTGTGACCA 0.647000 4 46 0.014758 0.0148685 1 1 0 CDK8 1024 broad.mit.edu 37 13 26923215 26923215 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr13:26923215C>G ENST00000381527.3 + 3 714 c.211C>G c.(211-213)Cga>Gga p.R71G CDK8_ENST00000536792.1_Missense_Mutation_p.R71G NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 71 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GCAGTTACTTCGAGAGCTTAA 0.383000 30 74 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 19992591 19992591 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:19992591C>T ENST00000289753.1 + 1 812 c.345C>T c.(343-345)ctC>ctT p.L115L NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 115 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding p.L115L(1) endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CCTCCATCCTCAACCTCTGCC 0.682000 12 54 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:88299660G>A ENST00000369536.5 - 1 61 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.R6C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672000 OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 8 47 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91432632 91432632 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr15:91432632C>T ENST00000328850.3 + 6 907 c.765C>T c.(763-765)atC>atT p.I255I FES_ENST00000444422.2_Silent_p.I255I|FES_ENST00000414248.2_Silent_p.I197I|FES_ENST00000450438.2_Silent_p.I197I|FES_ENST00000394300.3_Silent_p.I197I|FES_ENST00000394302.1_Silent_p.I197I NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 255 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTGCCCGCATCCAGCCTGAGG 0.632000 9 60 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20212397 20212397 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr6:20212397G>A ENST00000324607.7 - 1 233 c.69C>T c.(67-69)ctC>ctT p.L23L MBOAT1_ENST00000541730.1_5'UTR|RP11-239H6.2_ENST00000449143.2_RNA|MBOAT1_ENST00000536798.1_Silent_p.L23L NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 23 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) GGAGCTCGCTGAGCGGGTGCA 0.697000 5 10 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38446352 38446352 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:38446352C>G ENST00000373019.4 - 8 1551 c.596G>C c.(595-597)aGa>aCa p.R199T SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.R146T NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 199 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGGCTTCACTCTATCTGTGTA 0.438000 10 68 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356607 37356607 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:37356607C>T ENST00000217420.1 + 2 1166 c.903C>T c.(901-903)atC>atT p.I301I NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 301 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) AGTTCTACATCGACGTCAAGA 0.557000 11 51 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35609868 35609868 + Nonsense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr17:35609868G>A ENST00000353139.5 - 15 2402 c.1921C>T c.(1921-1923)Cag>Tag p.Q641* ACACA_ENST00000394406.2_Nonsense_Mutation_p.Q604*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.Q546*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.Q526* NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 604 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGTTCATCTGAAAGCTTTCA 0.423000 30 123 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472892 123472892 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr12:123472892C>T ENST00000280562.5 - 19 3073 c.2868G>A c.(2866-2868)atG>atA p.M956I PITPNM2_ENST00000392428.1_Missense_Mutation_p.M683I|PITPNM2_ENST00000542749.1_Missense_Mutation_p.M962I|PITPNM2_ENST00000320201.4_Missense_Mutation_p.M962I Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGTCATGCCTCATGACCTGGG 0.637000 22 90 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37443323 37443323 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:37443323C>T ENST00000234170.5 - 8 2485 c.2340G>A c.(2338-2340)ccG>ccA p.P780P AC007390.5_ENST00000438935.2_3'UTR NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 780 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) GTTTTCTTTTCGGCTGCATCA 0.284000 11 58 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30734625 30734625 + Missense_Mutation SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr20:30734625G>C ENST00000217315.5 + 9 1210 c.870G>C c.(868-870)aaG>aaC p.K290N TM9SF4_ENST00000398022.2_Missense_Mutation_p.K307N Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 307 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCTCCGGAAGGACATTGCCA 0.542000 8 20 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046285 69046285 + Missense_Mutation SNP T T C rs143413666 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:69046285T>C ENST00000295381.3 + 9 1450 c.1031T>C c.(1030-1032)aTg>aCg p.M344T ARHGAP25_ENST00000409220.1_Missense_Mutation_p.M338T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.M38T|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.M338T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.M337T|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.M305T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.M345T NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 344 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GTGATGACTATGATGATCAGA 0.502000 31 146 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19168303 19168303 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr19:19168303G>A ENST00000535612.1 + 9 1804 c.1372G>A c.(1372-1374)Gag>Aag p.E458K ARMC6_ENST00000392335.2_Missense_Mutation_p.E433K|ARMC6_ENST00000269932.6_Missense_Mutation_p.E433K|ARMC6_ENST00000392336.3_Missense_Mutation_p.E458K|ARMC6_ENST00000546344.1_Missense_Mutation_p.E365K NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 458 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) CCTGGGGGCTGAGGCACTCAT 0.632000 20 51 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3452307 3452307 + Silent SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:3452307G>A ENST00000268655.4 + 1 888 c.303G>A c.(301-303)gaG>gaA p.E101E ZNF174_ENST00000571936.1_Silent_p.E101E|ZNF174_ENST00000575752.1_Silent_p.E101E|ZNF174_ENST00000344823.5_Silent_p.E101E|ZNF174_ENST00000572544.1_Silent_p.E101E NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 101 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TGCCCCCGGAGATCCAGGCTC 0.557000 18 60 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43913743 43913755 + Splice_Site DEL ACCCCAGGCTACA ACCCCAGGCTACA - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:43913743_43913755delACCCCAGGCTACA ENST00000562955.1 + 68 9392_9398 c.9392_9398delACCCCAGGCTACA c.(9391-9399)caccccagg>cg p.HPR3131fs SZT2_ENST00000372442.1_Splice_Site_p.HPR2289fs|SZT2-AS1_ENST00000396885.2_RNA NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3188 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCTGCTCCCCACCCCAGGCTACAGTTCTTCGTG 0.629 8 25 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:121116645delT ENST00000437515.1 - 0 329 NR_104189.1 CAAGCCCCCCTTTAAAAAAAA 0.393 7 46 --- --- --- --- LOC101928372 101928372 broad.mit.edu 37 1 160905975 160905975 + RNA DEL T T - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:160905975delT ENST00000356006.3 + 0 629 cttcttcttcttttttttttt 0.393 3 6 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)ctgcta>cta p.19_20LL>L NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 19 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 10 640 --- --- --- --- AGXT 189 broad.mit.edu 37 2 241818162 241818162 + Frame_Shift_Del DEL C C - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr2:241818162delC ENST00000307503.3 + 11 1490 c.1103delC c.(1102-1104)gccfs p.A368fs NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 368 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGCTGCAATGCCACCCGCGAG 0.701 2 4 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 2 4 --- --- --- --- CTNND1 1500 broad.mit.edu 37 11 57576777 57576781 + Frame_Shift_Del DEL TCTGC TCTGC - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:57576777_57576781delTCTGC ENST00000524630.1 + 14 2769_2773 c.2256_2260delTCTGC c.(2254-2262)aatctgccafs p.LP753fs CTNND1_ENST00000526938.1_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.LP430fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.LP430fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.LP430fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.LP436fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.LP705fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.LP436fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.LP705fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.LP658fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.LP658fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.LP759fs O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 759 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) TGGTAAAGAATCTGCCAGGAGGACA 0.415 28 88 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63533342 63533342 + RNA DEL C C - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr11:63533342delC ENST00000433688.1 - 0 592 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding tcttcctcctcctcctcctcc 0.662 2 4 --- --- --- --- AC002331.1 0 broad.mit.edu 37 16 26599065 26599068 + RNA DEL ACAG ACAG - rs71134607 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:26599065_26599068delACAG ENST00000443373.1 - 0 104 ACATACAGACacagacagacagac 0.353 2 4 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81201441 81201441 + RNA DEL G G - rs35726804 TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr16:81201441delG ENST00000533478.1 - 0 1149 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 tctgcaagatggggggggaaa 0.567 2 4 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 3 3 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73061949 73061950 + RNA INS - - A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5883c42e-d02f-4e46-a0d8-c2e1afd3cd78 c9fb274f-f2a4-4695-ac3c-685298eec12e g.chrX:73061949_73061950insA ENST00000429829.1 - 0 10638_10639 NR_001564.2 ATTTTGGCTTCAAAAAAATAAT 0.351 5 5 --- --- --- ---