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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SUMF1 285362 broad.mit.edu 37 3 4452589 4452589 + Nonsense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:4452589C>T uc003bpz.2 - 6 951 c.914G>A c.(913-915)tGg>tAg p.W305* SUMF1_uc003bps.2_Non-coding_Transcript|SUMF1_uc011ass.2_Nonsense_Mutation_p.W280*|SUMF1_uc010hby.2_Nonsense_Mutation_p.W305*|SUMF1_uc011ast.2_Nonsense_Mutation_p.W173* NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA. 305 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) AACAGTCCACCAGTCTGAAGT 0.453000 155 5 0 0 0.029380 0 0 CXorf66 347487 broad.mit.edu 37 X 139038312 139038312 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:139038312T>C uc004fbb.3 - 2 851 c.829A>G c.(829-831)Aaa>Gaa p.K277E NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA. 277 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 CTATAAGTTTTGGCAACAAGA 0.398000 33 31 0 0 0.183431 0 0 ZNF208 7757 broad.mit.edu 37 19 22155506 22155506 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:22155506T>C uc021urr.1 - 3 2479 c.2330A>G c.(2329-2331)tAc>tGc p.Y777C ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. p.L776I(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTCACATTTGTAGGGTTTCTC 0.363000 37 14 0 0 0.049695 0 0 TIMD4 91937 broad.mit.edu 37 5 156381695 156381695 + Missense_Mutation SNP G A A rs115724540 byFrequency TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:156381695G>A uc003lwh.2 - 1 188 c.131C>T c.(130-132)tCc>tTc p.S44F TIMD4_uc010jii.2_Missense_Mutation_p.S44F NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 44 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGAGACCAGGATGAGTACAG 0.542000 42 45 0 0 0.139131 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238615 71238615 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:71238615G>A uc001oqq.1 + 0 303 c.269G>A c.(268-270)tGt>tAt p.C90Y NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA. 90 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TGTGGTTCTTGTGgctgctcc 0.647000 255 6 0 0 0.069234 0 0 PASD1 139135 broad.mit.edu 37 X 150773187 150773187 + Missense_Mutation SNP T A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:150773187T>A uc004fev.4 + 2 430 c.98T>A c.(97-99)tTc>tAc p.F33Y NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 33 PAS. nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TATGATTACTTCAACCAAGTG 0.333000 92 4 0 0 0.014758 0 0 FRG1B 284802 broad.mit.edu 37 20 29624070 29624070 + Missense_Mutation SNP G A A rs79198850 TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr20:29624070G>A uc010ztl.1 + 0 36 c.4G>A c.(4-6)Gct>Act p.A2T FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.A32T(2)|p.R2M(1) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCAGTTTATGGCTGTCAAATT 0.279000 12 3 0 0 0.029380 0 0 GGT3P 2679 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C T T rs1055042 by1000genomes TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr22:18778612C>T uc011ago.1 - 1 c.208G>A GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA. GCGGCCACGGCAGCCCTGGTG 0.637000 44 5 0 0 0.038147 0 0 CMYA5 202333 broad.mit.edu 37 5 79032476 79032476 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:79032476G>A uc003kgc.3 + 1 7960 c.7888G>A c.(7888-7890)Gag>Aag p.E2630K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 2630 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGTTTTGGTGGAGAAAACCAA 0.428000 39 10 0 0 0.093190 0 0 MYO16 23026 broad.mit.edu 37 13 109704741 109704741 + Missense_Mutation SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr13:109704741G>T uc010agk.2 + 24 3588 c.2966G>T c.(2965-2967)gGa>gTa p.G989V MYO16_uc001vqt.1_Missense_Mutation_p.G967V|MYO16_uc001vqu.1_Missense_Mutation_p.G767V|MYO16_uc010tjh.1_Missense_Mutation_p.G479V NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 967 Myosin head-like 2. cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAATTCCGAGGACATAAGTCT 0.373000 44 9 3.86212e-05 4.2286e-05 0.069234 1 0 KCNH2 3757 broad.mit.edu 37 7 150648643 150648643 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:150648643G>A uc003wic.3 - 6 2239 c.1838C>T c.(1837-1839)aCg>aTg p.T613M KCNH2_uc003wib.3_Missense_Mutation_p.T273M|KCNH2_uc011kux.2_Missense_Mutation_p.T517M|KCNH2_uc003wid.3_Missense_Mutation_p.T273M|KCNH2_uc003wie.3_Missense_Mutation_p.T613M NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 613 T -> M (in LQT2). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTAGAGCGCCGTCACATACTT 0.587000 67 22 0 0 0.091800 0 0 KRT16 3868 broad.mit.edu 37 17 39766663 39766663 + Nonsense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr17:39766663G>C uc002hxg.4 - 5 1339 c.1200C>G c.(1198-1200)taC>taG p.Y400* JUP_uc010wfs.2_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 400 Coil 2.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GCAAGATCTGGTACTCCTGGC 0.627000 112 50 0 0 0.139131 0 0 MSLNL 401827 broad.mit.edu 37 16 832011 832011 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr16:832011C>T uc002cjz.1 - 1 112 c.112G>A c.(112-114)Gac>Aac p.D38N NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GCTGAGACGTCCCAGGGCAGG 0.662000 5 9 0 0 0.069234 0 0 PAIP1 10605 broad.mit.edu 37 5 43556095 43556095 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:43556095G>C uc003job.3 - 1 519 c.272C>G c.(271-273)aCg>aGg p.T91R PAIP1_uc003joa.3_Missense_Mutation_p.T12R|PAIP1_uc003joc.3_5'UTR NM_006451 NP_899152 Q9H074 PAIP1_HUMAN Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA. 91 Pro-rich. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol RNA binding|protein binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) CAGGGGCCTCGTTTGCTCTGC 0.458000 100 28 0 0 0.144211 0 0 CLEC18B 497190 broad.mit.edu 37 16 74447026 74447026 + Silent SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr16:74447026G>T uc002fct.3 - 4 785 c.585C>A c.(583-585)atC>atA p.I195I CLEC18B_uc002fcu.3_Silent_p.I195I|CLEC18B_uc010vmu.1_Silent_p.I115I|CLEC18B_uc010vmv.1_5'Flank NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA. 195 extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TATAGGGGATGATTGTCTTCC 0.622000 204 18 3.8784e-16 4.61715e-16 0.062417 1 0 CSMD1 64478 broad.mit.edu 37 8 2824193 2824193 + Nonsense_Mutation SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:2824193G>T uc022aqr.1 - 57 9389 c.8999C>A c.(8998-9000)tCg>tAg p.S3000* CSMD1_uc011kwj.2_Nonsense_Mutation_p.S2330*|CSMD1_uc010lrg.3_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3001 Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATAGATGACCGAGCTGGAGAA 0.562000 73 18 2.44723e-14 2.86785e-14 0.099896 1 0 TRRAP 8295 broad.mit.edu 37 7 98557029 98557030 + Missense_Mutation DNP CC TT TT TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:98557029_98557030CC>TT uc003upp.3 + 43 6593_6594 c.6384_6385CC>TT c.(6382-6387)aacctt>aaTTtt p.L2129F TRRAP_uc011kis.2_Missense_Mutation_p.L2111F|TRRAP_uc003upr.3_Missense_Mutation_p.L1828F NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2129 Interaction with TP53. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGTGTGTGAACCTTCTGAAGAC 0.564000 57 23 0 0 0.115264 0 0 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:37027200A>C uc004ddl.2 + 0 769 c.717A>C c.(715-717)ccA>ccC p.P239P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 239 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGGAGCCTCCAGAGACTGGAG 0.637000 63 3 0 0 0.115264 0 0 MYOZ1 58529 broad.mit.edu 37 10 75394358 75394358 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr10:75394358G>A uc001jur.3 - 3 751 c.386C>T c.(385-387)tCt>tTt p.S129F NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN Homo sapiens myozenin 1 (MYOZ1), mRNA. 129 Gly-rich. myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CTGCTGATCAGAGCCATACTG 0.657000 131 4 0 0 0.029380 0 0 MUC17 140453 broad.mit.edu 37 7 100680525 100680525 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:100680525T>C uc003uxp.1 + 2 5881 c.5828T>C c.(5827-5829)aTc>aCc p.I1943T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1943 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.E1942*(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGTTCTGAAATCAACACCCTT 0.498000 442 5 0 0 0.038147 0 0 CSMD1 64478 broad.mit.edu 37 8 2824186 2824186 + Silent SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:2824186G>T uc022aqr.1 - 57 9396 c.9006C>A c.(9004-9006)atC>atA p.I3002I CSMD1_uc011kwj.2_Silent_p.I2332I|CSMD1_uc010lrg.3_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3003 Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCAGGCATAGATGACCGAGC 0.547000 70 14 7.87624e-14 9.08797e-14 0.076483 1 0 TRRAP 8295 broad.mit.edu 37 7 98558955 98558955 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:98558955C>T uc003upp.3 + 44 6749 c.6540C>T c.(6538-6540)gtC>gtT p.V2180V TRRAP_uc011kis.2_Silent_p.V2162V|TRRAP_uc003upr.3_Silent_p.V1879V NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2180 Interaction with TP53. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTAACTGTCCTCCAGTCCC 0.547000 112 26 0 0 0.125774 0 0 BBX 56987 broad.mit.edu 37 3 107524293 107524293 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:107524293G>A uc010hpr.3 + 17 3142 c.2815G>A c.(2815-2817)Gct>Act p.A939T BBX_uc003dwk.4_Missense_Mutation_p.A909T|BBX_uc003dwl.4_Silent_p.A602A|BBX_uc003dwm.4_Missense_Mutation_p.A909T|BBX_uc003dwo.4_Silent_p.A255A NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA. 939 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TATTTCCTGCGCTGACCAGTG 0.468000 83 9 0 0 0.058154 0 0 SI 6476 broad.mit.edu 37 3 164786518 164786518 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:164786518G>A uc003fei.3 - 4 538 c.475C>T c.(475-477)Cgg>Tgg p.R159W NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 159 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.R159G(2)|p.R159R(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCTTGAACCGGAAACGATTG 0.423000 HNSCC(35;0.089) 73 19 0 0 0.055883 0 0 PDSS1 23590 broad.mit.edu 37 10 27009216 27009216 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr10:27009216C>T uc001isv.3 + 5 583 c.537C>T c.(535-537)caC>caT p.H179H PDSS1_uc001isw.3_Silent_p.H179H NM_014317 NP_055132 Q5T2R2 DPS1_HUMAN Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA. 179 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 GTCTGGTTCACGATGACGTTA 0.398000 30 26 0 0 0.125774 0 0 HTR3B 9177 broad.mit.edu 37 11 113813867 113813867 + Missense_Mutation SNP A C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:113813867A>C uc001pok.3 + 6 998 c.860A>C c.(859-861)aAc>aCc p.N287T HTR3B_uc001pol.3_Missense_Mutation_p.N276T NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 287 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTCAGGGTCAACATGTCCAAC 0.572000 32 9 0 0 0.069234 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540344 169540344 + Missense_Mutation SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:169540344G>T uc003fgb.3 + 0 635 c.635G>T c.(634-636)gGg>gTg p.G212V NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 212 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 CACCTGACGGGGCTGCAGAAG 0.527000 120 21 3.5997e-14 4.1857e-14 0.069288 1 0 TXNRD2 10587 broad.mit.edu 37 22 19918614 19918614 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr22:19918614C>G uc021wlj.1 - 1 144 c.111G>C c.(109-111)caG>caC p.Q37H TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.Q36H|TXNRD2_uc010grv.1_Missense_Mutation_p.Q37H|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Missense_Mutation_p.Q5H NM_006440 Q9NNW7 TRXR2_HUMAN Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA. 37 cell redox homeostasis|response to oxygen radical mitochondrion NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) CATAGTCCCGCTGACCTGCTG 0.532000 153 16 0 0 0.049695 0 0 LOC643486 643486 broad.mit.edu 37 X 95592522 95592522 + RNA SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:95592522T>C uc010nmx.3 - 0 c.380A>G Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA. TGTCTTTTGTTCCAAATGTCT 0.383000 10 11 0 0 0.105934 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:37027156C>G uc004ddl.2 + 0 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 65 3 0 0 0.150653 0 0 RIMS3 9783 broad.mit.edu 37 1 41107425 41107425 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:41107425C>A uc001cfu.1 - 2 638 c.173G>T c.(172-174)gGc>gTc p.G58V RIMS3_uc001cfv.1_Missense_Mutation_p.G58V NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA. 58 neurotransmitter transport cell junction|synapse p.V57>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CTGAGTCAGGCCCACGATGGC 0.652000 63 23 2.48779e-11 2.82704e-11 0.108266 1 0 SH2D3C 10044 broad.mit.edu 37 9 130504196 130504196 + Silent SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr9:130504196G>T uc004bsc.3 - 8 2101 c.1959C>A c.(1957-1959)ggC>ggA p.G653G SH2D3C_uc010mxo.3_Silent_p.G493G|SH2D3C_uc004bry.3_Silent_p.G495G|SH2D3C_uc004brz.4_Silent_p.G299G|SH2D3C_uc011mak.2_Silent_p.G299G|SH2D3C_uc004bsb.3_Silent_p.G585G|SH2D3C_uc004bsa.3_Silent_p.G496G NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 653 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity p.G653G(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGCCGGTGCAGCCCAGGATGT 0.687000 34 6 5.9392e-07 6.64836e-07 0.021553 1 0 TRRAP 8295 broad.mit.edu 37 7 98558887 98558887 + Nonsense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:98558887C>T uc003upp.3 + 44 6681 c.6472C>T c.(6472-6474)Cag>Tag p.Q2158* TRRAP_uc011kis.2_Nonsense_Mutation_p.Q2140*|TRRAP_uc003upr.3_Nonsense_Mutation_p.Q1857* NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2158 Interaction with TP53. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATTGCAGGAGCAGCCAAACCA 0.473000 130 23 0 0 0.064281 0 0 CEP57 9702 broad.mit.edu 37 11 95546701 95546701 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:95546701G>A uc001pfp.2 + 3 690 c.452G>A c.(451-453)cGa>cAa p.R151Q CEP57_uc001pfo.2_Missense_Mutation_p.R151Q|CEP57_uc009ywn.2_5'UTR|CEP57_uc010ruh.2_Missense_Mutation_p.R142Q|CEP57_uc001pfq.2_Missense_Mutation_p.R151Q|CEP57_uc001pfr.2_5'UTR NM_014679 NP_055494 Q86XR8 CEP57_HUMAN Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA. 151 centrosome localization domain (CLD) (By similarity). G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development Golgi apparatus|centrosome|cytosol|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAATACATGCGAAATATGATA 0.343000 Mosaic Variegated Aneuploidy Syndrome 39 5 0 0 0.021553 0 0 ANK1 286 broad.mit.edu 37 8 41525969 41525969 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:41525969G>A uc003xok.3 - 38 5294 c.5210C>T c.(5209-5211)aCc>aTc p.T1737I NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.T891I|ANK1_uc003xoi.3_Missense_Mutation_p.T1737I|ANK1_uc003xoj.3_Missense_Mutation_p.T1737I|ANK1_uc003xol.3_Missense_Mutation_p.T1575I|ANK1_uc003xom.3_Missense_Mutation_p.T1778I NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1737 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTCAGTCATGGTACTTGTTCC 0.557000 66 25 0 0 0.125774 0 0 GNA11 2767 broad.mit.edu 37 19 3118942 3118943 + Missense_Mutation DNP AG TT TT TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:3118942_3118943AG>TT uc002lxd.3 + 4 868_869 c.626_627AG>TT c.(625-627)cag>cTT p.Q209L DKFZp434J194_uc010xhe.2_5'Flank NM_002067 NP_002058 P29992 GNA11_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA. 209 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.Q209L(217)|p.Q209P(6)|p.Q209K(1) endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GTGGGGGGCCAGCGGTCGGAGC 0.614000 Mis uveal melanoma 67 18 0 0 0.115264 0 0 OR51M1 390059 broad.mit.edu 37 11 5411106 5411106 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:5411106G>A uc010qzc.2 + 0 500 c.478G>A c.(478-480)Gtc>Atc p.V160I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 160 integral to membrane olfactory receptor activity p.V160A(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCTAATTGTCATCTTCCG 0.542000 136 51 0 0 0.139131 0 0 CTAG2 30848 broad.mit.edu 37 X 153880704 153880704 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:153880704G>A uc004fmi.2 - 1 535 c.471C>T c.(469-471)tcC>tcT p.S157S CTAG2_uc004fmh.2_Intron NM_020994 NP_066274 O75638 CTAG2_HUMAN Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA. 157 centrosome p.G156E(1) central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 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) CCGGGGAGGCGGATCCCAGCC 0.622000 220 5 0 0 0.014758 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999153 27999153 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:27999153C>A uc004dbx.1 - 0 414 c.299G>T c.(298-300)aGg>aTg p.R100M NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA. 100 Glu-rich. p.E99K(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ttcctcctccCTTTCTGTCTC 0.483000 43 24 1.96895e-08 2.22062e-08 0.076483 1 0 MAN2A1 4124 broad.mit.edu 37 5 109191010 109191010 + Missense_Mutation SNP T G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:109191010T>G uc003kou.1 + 19 4109 c.3146T>G c.(3145-3147)gTt>gGt p.V1049G NM_002372 NP_002363 Q16706 MA2A1_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA. 1049 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) ATTCATCTGGTTAATTTGAGA 0.358000 21 7 0 0 0.038147 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G C C rs141357429 by1000genomes TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr17:39274087G>C uc002hvz.3 - 0 520 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 14 4 0 0 0.029380 0 0 C9orf174 100499483 broad.mit.edu 37 9 100124130 100124130 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr9:100124130G>A uc011lut.2 + 40 5161 c.4155G>A c.(4153-4155)ggG>ggA p.G1385G C9orf174_uc004axe.2_Silent_p.G1217G|C9orf174_uc011lus.2_Silent_p.G1035G|C9orf174_uc004axg.2_Silent_p.G1246G|C9orf174_uc004axh.2_Non-coding_Transcript NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 1217 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 GCCGCGTGGGGAAGCCCCTGA 0.617000 38 11 0 0 0.105934 0 0 HSD3B1 3283 broad.mit.edu 37 1 120050152 120050152 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:120050152G>A uc001ehv.1 + 1 198 c.53G>A c.(52-54)aGg>aAg p.R18K NM_000862 NP_000853 P14060 3BHS1_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA. 18 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CTGGGACAGAGGATCATCCGC 0.517000 72 51 0 0 0.139131 0 0 BRE 9577 broad.mit.edu 37 2 28352238 28352238 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:28352238G>C uc002rls.3 + 6 923 c.671G>C c.(670-672)cGa>cCa p.R224P BRE_uc002rlp.1_Missense_Mutation_p.R224P|BRE_uc002rlq.3_Missense_Mutation_p.R224P|BRE_uc002rlr.3_Missense_Mutation_p.R224P|BRE_uc002rlt.3_Missense_Mutation_p.R224P|BRE_uc002rlu.3_Missense_Mutation_p.R224P|BRE_uc002rlv.3_Missense_Mutation_p.R86P NM_004899 NP_004890 Q9NXR7 BRE_HUMAN Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA. 224 G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TTGTCACCTCGAATTGAGCAG 0.448000 65 28 0 0 0.064281 0 0 NFATC2 4773 broad.mit.edu 37 20 50049132 50049132 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr20:50049132G>A uc002xwd.3 - 8 2414 c.2194C>T c.(2194-2196)Cgc>Tgc p.R732C NFATC2_uc002xwc.3_Missense_Mutation_p.R732C|NFATC2_uc010zyv.2_Missense_Mutation_p.R513C|NFATC2_uc010zyw.2_Missense_Mutation_p.R513C|NFATC2_uc002xwe.3_Missense_Mutation_p.R712C|NFATC2_uc010zyx.2_Missense_Mutation_p.R712C|NFATC2_uc010zyy.2_Missense_Mutation_p.R513C|NFATC2_uc010zyz.2_Missense_Mutation_p.R513C NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 732 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) AGCCCCGTGCGGAACTGCTGG 0.682000 22 3 0 0 0.115264 0 0 DRD5 1816 broad.mit.edu 37 4 9784092 9784092 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr4:9784092C>T uc003gmb.4 + 0 835 c.439C>T c.(439-441)Cgc>Tgc p.R147C NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 147 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CAGGCCCTTCCGCTACAAGCG 0.597000 24 10 0 0 0.069234 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:207025366G>A uc002vbg.1 + 2 247 c.135G>A c.(133-135)ccG>ccA p.P45P NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank NM_021121 NP_066944 P24534 EF1B_HUMAN Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA. 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(10) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 113 6 0 0 0.038147 0 0 ATRX 546 broad.mit.edu 37 X 76931728 76931728 + Nonsense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:76931728C>A uc004ecp.4 - 9 4034 c.3802G>T c.(3802-3804)Gag>Tag p.E1268* ATRX_uc004ecq.4_Nonsense_Mutation_p.E1230*|ATRX_uc004eco.4_Nonsense_Mutation_p.E1053*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E1200* NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 1268 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TACCTATTCTCAGGATCATTG 0.398000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 52 22 1.77063e-15 2.0913e-15 0.108266 1 0 LOC100132247 0 broad.mit.edu 37 16 21854779 21854779 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr16:21854779C>T uc002djr.3 - 5 655 c.473G>A c.(472-474)cGt>cAt p.R158H LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.R139H|LOC100132247_uc010vbn.1_Missense_Mutation_p.R158H NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. CTTCCTCTTACGGATTTTAGC 0.383000 68 13 0 0 0.160694 0 0 MASP1 5648 broad.mit.edu 37 3 186974605 186974605 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:186974605G>A uc003frh.2 - 4 981 c.591C>T c.(589-591)atC>atT p.I197I MASP1_uc003fri.3_Silent_p.I197I|MASP1_uc003frj.3_Silent_p.I166I|MASP1_uc003frk.2_Silent_p.I197I|MASP1_uc011bse.2_Silent_p.I171I NM_001879 NP_001870 P48740 MASP1_HUMAN Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA. 197 CUB 2.|Interaction with FCN2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGGGCTGGTGATCACCCCAG 0.512000 75 23 0 0 0.173368 0 0 MTAP 4507 broad.mit.edu 37 9 21859395 21859395 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr9:21859395G>A uc003zph.3 + 6 897 c.784G>A c.(784-786)Gaa>Aaa p.E262K MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.E279K|MTAP_uc011lnl.2_Missense_Mutation_p.E195K NM_002451 NP_002442 Q13126 MTAP_HUMAN Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA. 262 nucleoside metabolic process cytoplasm S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) AGGGTCCACAGAATGGTCAGA 0.443000 52 10 0 0 0.080935 0 0 PLXNA3 55558 broad.mit.edu 37 X 153688986 153688986 + Missense_Mutation SNP A G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:153688986A>G uc004flm.3 + 1 636 c.463A>G c.(463-465)Att>Gtt p.I155V NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 155 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 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) GGCTGGTGTCATTGTGGAGCA 0.637000 177 34 0 0 0.064281 0 0 FANK1 92565 broad.mit.edu 37 10 127686010 127686010 + Silent SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr10:127686010T>C uc009yan.3 + 6 677 c.573T>C c.(571-573)tcT>tcC p.S191S FANK1_uc001ljh.4_Silent_p.S165S|FANK1_uc001lji.3_Silent_p.S159S NM_145235 NP_660278 Q8TC84 FANK1_HUMAN Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA. 165 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TCCTAGTTTCTAATGGCACAG 0.408000 98 13 0 0 0.132662 0 0 GABRB2 2561 broad.mit.edu 37 5 160886792 160886792 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:160886792T>C uc003lys.1 - 4 514 c.296A>G c.(295-297)aAt>aGt p.N99S GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.N99S|GABRB2_uc003lyt.1_Missense_Mutation_p.N99S|GABRB2_uc021yhg.1_Missense_Mutation_p.N36S|GABRB2_uc011dei.1_Missense_Mutation_p.N99S NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 99 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity p.Y98C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGTATTACATTATAGGACAG 0.408000 37 10 0 0 0.132662 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580666 40580666 + Silent SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:40580666T>C uc010xvh.2 - 5 1834 c.1686A>G c.(1684-1686)gaA>gaG p.E562E ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.E561E|ZNF780A_uc002omz.3_Silent_p.E561E NM_001142577 NP_001136049 O75290 Z780A_HUMAN Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA. 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTTCCCACATTCCTTACATT 0.388000 236 4 0 0 0.029380 0 0 DCST2 127579 broad.mit.edu 37 1 155001826 155001826 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:155001826T>C uc001fgm.3 - 7 1305 c.1225A>G c.(1225-1227)Acc>Gcc p.T409A DCST2_uc009wpb.3_Non-coding_Transcript NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 409 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGGTTGAAGGTCTCCAGAATG 0.552000 90 3 0 0 0.014758 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174200441 174200441 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:174200441T>C uc001gjx.3 + 3 767 c.490T>C c.(490-492)Tac>Cac p.Y164H RABGAP1L_uc009wwq.2_Missense_Mutation_p.Y164H|RABGAP1L_uc001gjw.3_Missense_Mutation_p.Y127H NM_014857 NP_055672 Q5R372 RBG1L_HUMAN Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. 164 PID. regulation of protein localization Golgi apparatus|early endosome|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TTCCAGTCAATACCCCTTTCC 0.388000 239 40 0 0 0.139131 0 0 HMGCS2 3158 broad.mit.edu 37 1 120295916 120295916 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:120295916C>T uc001eid.3 - 6 1369 c.1281G>A c.(1279-1281)caG>caA p.Q427Q HMGCS2_uc010oxj.2_Silent_p.Q385Q|HMGCS2_uc021osw.1_Silent_p.Q193Q NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 427 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GAGCAGCATCCTGGGATACTC 0.498000 46 4 0 0 0.014758 0 0 NISCH 11188 broad.mit.edu 37 3 52514200 52514200 + Splice_Site SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:52514200G>A uc003ded.4 + 13 1551 c.1417_splice c.e13-1 p.G473_splice NISCH_uc003dec.1_Splice_Site_p.G473_splice NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 473 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. 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) TCGTCCTCAGGGTGGTGAAGA 0.657000 109 29 0 0 0.134883 0 0 AKAP9 10142 broad.mit.edu 37 7 91631838 91631838 + Silent SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:91631838T>C uc003ulg.3 + 7 2832 c.2607T>C c.(2605-2607)gcT>gcC p.A869A AKAP9_uc003ule.2_Silent_p.A881A|AKAP9_uc003ulf.3_Silent_p.A869A|AKAP9_uc003uli.3_Silent_p.A494A NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 881 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol 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) AGGAGTATGCTTGCCTTCTCA 0.303000 T BRAF papillary thyroid 41 7 0 0 0.047766 0 0 OR1A2 26189 broad.mit.edu 37 17 3101369 3101369 + Missense_Mutation SNP A T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr17:3101369A>T uc002fvd.1 + 0 557 c.557A>T c.(556-558)aAg>aTg p.K186M NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA. 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CCTTTGCTGAAGTTGTCCTGT 0.463000 64 32 0 0 0.173368 0 0 POTEE 445582 broad.mit.edu 37 2 131976198 131976198 + Missense_Mutation SNP A G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:131976198A>G uc002tsn.2 + 0 275 c.223A>G c.(223-225)Agt>Ggt p.S75G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 75 ATP binding CTGCAGGGGGAGTGGCAAGAG 0.587000 160 3 0 0 0.150653 0 0 CHODL 140578 broad.mit.edu 37 21 19635164 19635164 + Missense_Mutation SNP A T T rs142087135 byFrequency TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr21:19635164A>T uc002ykv.3 + 4 1082 c.691A>T c.(691-693)Ata>Tta p.I231L CHODL_uc002ykr.3_Missense_Mutation_p.I190L|CHODL_uc002yks.3_Missense_Mutation_p.I190L|CHODL_uc021whr.1_Missense_Mutation_p.I190L|CHODL_uc002ykt.3_Intron|CHODL_uc002yku.3_Intron|CHODL_uc021whs.1_Missense_Mutation_p.I212L NM_024944 NP_001191105 Q9H9P2 CHODL_HUMAN Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA. 231 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GCTCTTACTGATACTGGTTGC 0.323000 68 29 0 0 0.104719 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961290 51961290 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:51961290C>A uc002pwt.3 - 0 419 c.352G>T c.(352-354)Gat>Tat p.D118Y SIGLEC8_uc010yda.2_Missense_Mutation_p.D118Y|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.D118Y NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 118 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GACCCCTTATCCCTCTTCCTG 0.488000 158 8 6.40141e-05 6.908e-05 0.080935 1 0 ZNF214 7761 broad.mit.edu 37 11 7023947 7023947 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:7023947C>T uc009yfh.1 - 1 419 c.120G>A c.(118-120)atG>atA p.M40I ZNF214_uc001mfa.2_Missense_Mutation_p.M40I|ZNF214_uc010ray.1_Missense_Mutation_p.M40I NM_013249 NP_037381 Q9UL59 ZN214_HUMAN Homo sapiens zinc finger protein 214 (ZNF214), mRNA. 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TACCTACTGACATGACATTTG 0.378000 88 31 0 0 0.069456 0 0 KLC2 64837 broad.mit.edu 37 11 66029609 66029609 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:66029609G>A uc010rov.1 + 3 718 c.475G>A c.(475-477)Gtc>Atc p.V159I KLC2_uc010row.1_Missense_Mutation_p.V159I|KLC2_uc001ohb.2_Missense_Mutation_p.V159I|KLC2_uc010rox.1_Missense_Mutation_p.V82I|KLC2_uc001ohc.2_Missense_Mutation_p.V159I|KLC2_uc001ohd.2_Missense_Mutation_p.V82I|KLC2_uc001ohe.1_Missense_Mutation_p.V20I NM_001134775 NP_073733 Q9H0B6 KLC2_HUMAN Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA. 159 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 GAAGGGGGACGTCCCCAAAGA 0.602000 54 12 0 0 0.132662 0 0 TEK 7010 broad.mit.edu 37 9 27206675 27206675 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr9:27206675C>T uc011lno.2 + 13 2773 c.2331C>T c.(2329-2331)gaC>gaT p.D777D TEK_uc003zqi.4_Silent_p.D820D|TEK_uc011lnp.2_Silent_p.D672D|TEK_uc003zqj.1_Silent_p.D754D NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 820 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CAGTGCTTGACTGGAATGACA 0.478000 44 12 0 0 0.119110 0 0 CDK17 5128 broad.mit.edu 37 12 96680478 96680478 + Missense_Mutation SNP C T T rs147593071 TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:96680478C>T uc001tep.2 - 11 1812 c.1180G>A c.(1180-1182)Gtg>Atg p.V394M CDK17_uc009ztk.3_Missense_Mutation_p.V394M|CDK17_uc010svb.2_Missense_Mutation_p.V341M NM_002595 NP_002586 Q00537 CDK17_HUMAN Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA. 394 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 TCATCTTCCACGGTTGATCCT 0.363000 58 17 0 0 0.062417 0 0 OTP 23440 broad.mit.edu 37 5 76932909 76932909 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:76932909C>T uc003kfg.3 - 1 332 c.184G>A c.(184-186)Gac>Aac p.D62N NM_032109 NP_115485 Q5XKR4 OTP_HUMAN Homo sapiens orthopedia homeobox (OTP), mRNA. 62 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GTGGTGATGTCCTCCCCGGGC 0.731000 9 7 0 0 0.058154 0 0 GRB14 2888 broad.mit.edu 37 2 165365354 165365354 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:165365354C>T uc002ucl.3 - 6 1366 c.825G>A c.(823-825)cgG>cgA p.R275R GRB14_uc010zcv.2_Silent_p.R188R NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 275 PH. blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity p.R275R(2)|p.P274L(1) breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 ACTGCAAATGCCGCGGTTCCT 0.323000 21 50 0 0 0.139131 0 0 DDX23 9416 broad.mit.edu 37 12 49230029 49230029 + Silent SNP A G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:49230029A>G uc001rsm.3 - 10 1348 c.1257T>C c.(1255-1257)cgT>cgC p.R419R NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 419 U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GAATTGCCTGACGCTGTATAG 0.512000 194 4 0 0 0.021553 0 0 SLC1A3 6507 broad.mit.edu 37 5 36679892 36679892 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:36679892C>T uc003jkj.4 + 6 1500 c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W SLC1A3_uc011cox.2_Missense_Mutation_p.R235W|SLC1A3_uc010iuy.3_Missense_Mutation_p.R342W NM_004172 NP_004163 P43003 EAA1_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA. 342 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R342W(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CTTGGTAACACGGAAAAACCC 0.488000 46 28 0 0 0.125774 0 0 USH1C 10083 broad.mit.edu 37 11 17548358 17548358 + Splice_Site SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:17548358C>G uc001mnf.3 - 7 631 c.522_splice c.e7-1 p.S174_splice USH1C_uc001mne.3_Splice_Site_p.S174_splice|USH1C_uc009yhb.3_Splice_Site_p.S174_splice|USH1C_uc001mng.3_Splice_Site|USH1C_uc001mnd.3_Splice_Site_p.S138_splice NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 174 G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ATCAGGAGAGCTGATGGGAAG 0.557000 27 13 0 0 0.105934 0 0 ALK 238 broad.mit.edu 37 2 30142966 30142966 + Missense_Mutation SNP A T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:30142966A>T uc002rmy.3 - 0 1512 c.560T>A c.(559-561)aTc>aAc p.I187N NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 187 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATCAGGCGGATCCTCAGTCG 0.652000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 30 7 0 0 0.029380 0 0 ZNF479 90827 broad.mit.edu 37 7 57187725 57187725 + Missense_Mutation SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:57187725G>T uc010kzo.3 - 4 1668 c.1397C>A c.(1396-1398)aCa>aAa p.T466K NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATGTGTAGGGTCT 0.428000 202 4 0.00909568 0.00934488 0.150653 1 0 ITGB5 3693 broad.mit.edu 37 3 124492548 124492548 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:124492548G>A uc003eho.3 - 10 2202 c.1905C>T c.(1903-1905)tgC>tgT p.C635C ITGB5_uc010hrx.3_Non-coding_Transcript|ITGB5_uc003ehp.1_Non-coding_Transcript NM_002213 NP_002204 P18084 ITB5_HUMAN Homo sapiens integrin, beta 5 (ITGB5), mRNA. 635 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TCTTGGTGCTGCATGCATCCG 0.657000 66 13 0 0 0.160694 0 0 SLC1A3 6507 broad.mit.edu 37 5 36677020 36677020 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:36677020C>G uc003jkj.4 + 5 1070 c.594C>G c.(592-594)agC>agG p.S198R SLC1A3_uc011cox.2_Missense_Mutation_p.S91R|SLC1A3_uc010iuy.3_Missense_Mutation_p.S198R NM_004172 NP_004163 P43003 EAA1_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA. 198 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.S198N(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) AGAAGAGAAGCTTTAAAGTGC 0.378000 12 3 0 0 0.115264 0 0 TRRAP 8295 broad.mit.edu 37 7 98558973 98558973 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:98558973C>T uc003upp.3 + 44 6767 c.6558C>T c.(6556-6558)atC>atT p.I2186I TRRAP_uc011kis.2_Silent_p.I2168I|TRRAP_uc003upr.3_Silent_p.I1885I NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2186 Interaction with TP53. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCCAGCCATCCTCAGTAGCT 0.557000 102 24 0 0 0.083992 0 0 KIAA0146 23514 broad.mit.edu 37 8 48626202 48626202 + Splice_Site SNP A T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:48626202A>T uc003xqd.3 + 16 2403 c.2341_splice c.e16+1 p.G781_splice KIAA0146_uc011ldc.2_Splice_Site_p.G711_splice|KIAA0146_uc011ldd.2_Splice_Site_p.G721_splice|KIAA0146_uc003xqe.3_Splice_Site_p.G256_splice|KIAA0146_uc003xqf.3_Splice_Site|KIAA0146_uc010lxt.3_Splice_Site_p.G470_splice|KIAA0146_uc011ldf.2_Splice_Site_p.G286_splice|KIAA0146_uc011ldg.2_Splice_Site_p.G271_splice|KIAA0146_uc003xqg.1_Splice_Site NM_001080394 NP_001073863 Q14159 K0146_HUMAN Homo sapiens KIAA0146 (KIAA0146), mRNA. 781 central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Lung NSC(58;0.175) GCAGTGTTCAAGGTAGGCAGC 0.463000 66 9 0 0 0.058154 0 0 PXDNL 137902 broad.mit.edu 37 8 52232505 52232505 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:52232505G>A uc003xqu.4 - 22 4439 c.4338C>T c.(4336-4338)tgC>tgT p.C1446C PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1446 VWFC. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AAACTGGACAGCAGGTTCCTT 0.512000 44 3 0 0 0.150653 0 0 PWP1 11137 broad.mit.edu 37 12 108098446 108098446 + Missense_Mutation SNP T A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:108098446T>A uc001tmo.1 + 10 1086 c.999T>A c.(997-999)gaT>gaA p.D333E NM_007062 NP_008993 Q13610 PWP1_HUMAN Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA. 333 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 GAAGTCCAGATGAAAGCCATC 0.398000 71 27 0 0 0.163468 0 0 CNTN5 53942 broad.mit.edu 37 11 99690276 99690276 + Splice_Site SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:99690276G>A uc001pga.3 + 4 560 c.56_splice c.e4-1 p.E19_splice CNTN5_uc009ywv.2_Splice_Site_p.E19_splice|CNTN5_uc001pfz.3_Splice_Site_p.E19_splice|CNTN5_uc021qpb.1_Splice_Site_p.E19_splice|CNTN5_uc021qpc.1_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 19 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTCTTACAGAGTATTCAAAAT 0.308000 47 8 0 0 0.080935 0 0 EPHB1 2047 broad.mit.edu 37 3 134977926 134977926 + Missense_Mutation SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:134977926G>T uc003eqt.3 + 15 3294 c.2919G>T c.(2917-2919)agG>agT p.R973S EPHB1_uc003equ.3_Missense_Mutation_p.R534S NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 973 SAM. R -> W (in dbSNP:rs1042784). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 ATTCTATGAGGGTCCAGATAA 0.502000 16 9 0.00136819 0.0014252 0.093190 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:207025358A>G uc002vbg.1 + 2 239 c.127A>G c.(127-129)Agc>Ggc p.S43G NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank NM_021121 NP_066944 P24534 EF1B_HUMAN Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA. 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(8) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 117 5 0 0 0.021553 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T C C rs121912666 TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr17:7578190T>C uc002gim.2 - 5 853 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). 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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 6 31 0 0 0.092188 0 0 HHLA2 11148 broad.mit.edu 37 3 108072520 108072520 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:108072520C>T uc003dwz.3 + 3 725 c.311C>T c.(310-312)gCg>gTg p.A104V HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.A104V|HHLA2_uc003dwy.4_Missense_Mutation_p.A104V NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 104 Ig-like V-type 1. integral to membrane p.A104V(1) endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 AATGGGAATGCGTCGCTATTT 0.403000 33 8 0 0 0.038147 0 0 AKAP3 10566 broad.mit.edu 37 12 4736477 4736477 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:4736477C>T uc001qnb.4 - 3 1835 c.1591G>A c.(1591-1593)Gcc>Acc p.A531T NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 531 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AGAAGCAGGGCAGACACGATC 0.512000 148 4 0 0 0.021553 0 0 ADH7 131 broad.mit.edu 37 4 100349726 100349726 + Missense_Mutation SNP T A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr4:100349726T>A uc003huv.2 - 2 459 c.218A>T c.(217-219)aAg>aTg p.K73M ADH7_uc021xqj.1_Missense_Mutation_p.K81M NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 73 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CACTGGAAACTTGGACACCAT 0.438000 79 32 0 0 0.086207 0 0 CROT 54677 broad.mit.edu 37 7 87011494 87011494 + Missense_Mutation SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:87011494G>T uc003uiu.3 + 12 1496 c.1251G>T c.(1249-1251)agG>agT p.R417S CROT_uc003uit.3_Missense_Mutation_p.R389S NM_001143935 NP_001137407 Q9UKG9 OCTC_HUMAN Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA. 389 Coenzyme A binding (By similarity). fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.R389R(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AGTATCTCAGGGAGGTATATT 0.343000 31 7 5.18039e-06 5.75599e-06 0.038147 1 0 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:13028751G>C uc010sho.2 + 0 341 c.319G>C c.(319-321)Ggc>Cgc p.G107R Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA. GGTGTTTGACGGCATCCCACC 0.612000 31 3 0 0 0.115264 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518454 161518454 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:161518454C>A uc001gar.3 - 2 368 c.184G>T c.(184-186)Gct>Tct p.A62S FCGR3A_uc001gas.3_Missense_Mutation_p.A61S|FCGR3A_uc001gat.4_Missense_Mutation_p.A26S|FCGR3A_uc009wuh.3_Missense_Mutation_p.A25S|FCGR3A_uc009wui.3_Missense_Mutation_p.A26S NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 26 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AACACCACAGCCTTTGGGAGA 0.557000 104 10 2.68362e-12 3.07285e-12 0.093190 1 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T C C rs79807294 by1000genomes TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr4:71347185T>C uc011cat.2 + 3 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 77 5 0 0 0.014758 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660735 100660735 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:100660735C>G uc009ztv.1 - 0 123 c.120G>C c.(118-120)agG>agC p.R40S SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.R40S|DEPDC4_uc001thj.1_Missense_Mutation_p.R40S|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN Homo sapiens DEP domain containing 4 (DEPDC4), mRNA. 40 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 CTCTACGGTTCCTGGAACTTG 0.582000 90 33 0 0 0.086207 0 0 TUBA1B 10376 broad.mit.edu 37 12 49522057 49522057 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:49522057C>A uc001rtm.3 - 3 1261 c.1040G>T c.(1039-1041)tGc>tTc p.C347F TUBA1B_uc021qxn.1_Missense_Mutation_p.C145F|TUBA1B_uc001rtl.3_Missense_Mutation_p.C312F|TUBA1A_uc010smg.1_5'UTR NM_006082 NP_006073 P68363 TBA1B_HUMAN Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA. 347 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GCCAGTGGGGCACCAATCCAC 0.557000 64 7 0.000157383 0.000167429 0.038147 1 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:12187275G>C uc002mtb.2 + 3 1483 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_uc010dym.1_Missense_Mutation_p.R290P NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN Homo sapiens zinc finger protein 844 (ZNF844), mRNA. 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 67 3 0 0 0.150653 0 0 TEKT5 146279 broad.mit.edu 37 16 10788486 10788486 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr16:10788486C>T uc002czz.1 - 0 317 c.245G>A c.(244-246)cGc>cAc p.R82H NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 82 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GAGTGCGGAGCGCAGTGTGGG 0.667000 46 25 0 0 0.108266 0 0 SPTBN4 57731 broad.mit.edu 37 19 41078018 41078018 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:41078018G>A uc002ony.3 + 33 7499 c.7413G>A c.(7411-7413)ggG>ggA p.G2471G SPTBN4_uc002onz.3_Silent_p.G2471G|SPTBN4_uc010egx.3_Silent_p.G1214G NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 2471 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACACGGTGGGGAACCGCTGC 0.597000 246 4 0 0 0.150653 0 0 WASH3P 374666 broad.mit.edu 37 15 102516373 102516373 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr15:102516373C>T uc002cdi.3 + 10 2119 c.699C>T c.(697-699)ccC>ccT p.P233P WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.P432P(1) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GTGAGGGGCCCGGAGGAGCCT 0.662000 2 2 0 0 0.115264 0 0 MLL 4297 broad.mit.edu 37 11 118373881 118373881 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:118373881C>T uc001pta.3 + 26 7288 c.7265C>T c.(7264-7266)tCc>tTc p.S2422F MLL_uc001ptb.3_Missense_Mutation_p.S2425F NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2422 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GGATCTAGTTCCAGAGATAGG 0.393000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 26 6 0 0 0.021553 0 0 TRRAP 8295 broad.mit.edu 37 7 98543392 98543392 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:98543392G>C uc003upp.3 + 31 4705 c.4496G>C c.(4495-4497)aGa>aCa p.R1499T TRRAP_uc011kis.2_Intron|TRRAP_uc003upr.3_Missense_Mutation_p.R1191T NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 1499 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGTGCGGGAGATGTCCCTTG 0.373000 73 20 0 0 0.125774 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777892 31777892 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr6:31777892G>C uc003nxh.3 - 1 2041 c.1858C>G c.(1858-1860)Cct>Gct p.P620A HSPA1L_uc010jte.3_Missense_Mutation_p.P620A|HSPA1L_uc021yuz.1_Missense_Mutation_p.P620A NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 620 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CCGCAGGCAGGCCCAGTGCAT 0.468000 87 15 0 0 0.146539 0 0 LRP1B 53353 broad.mit.edu 37 2 141751586 141751586 + Silent SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:141751586G>A uc002tvj.1 - 15 3594 c.2622C>T c.(2620-2622)agC>agT p.S874S LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 874 LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.S874S(4)|p.G873*(1)|p.G873G(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCCTCATCGCTTCCGTCTA 0.428000 TSP Lung(27;0.18) 40 18 0 0 0.049695 0 0 ZAN 7455 broad.mit.edu 37 7 100361701 100361701 + Silent SNP T G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:100361701T>G uc003uwj.3 + 21 4314 c.4149T>G c.(4147-4149)ctT>ctG p.L1383L ZAN_uc003uwk.3_Silent_p.L1383L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1383 binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.L1383I(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCTGCATGCTTGATATGTGCG 0.607000 52 23 0 0 0.108266 0 0 OR2W1 26692 broad.mit.edu 37 6 29012357 29012357 + Missense_Mutation SNP A G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr6:29012357A>G uc003nlw.2 - 0 596 c.596T>C c.(595-597)gTt>gCt p.V199A LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 TAAAGCGAAAACAGACATTTC 0.418000 139 28 0 0 0.116897 0 0 BAI3 577 broad.mit.edu 37 6 69646417 69646417 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr6:69646417C>A uc010kak.3 + 3 1151 c.875C>A c.(874-876)tCt>tAt p.S292Y BAI3_uc003pev.4_Missense_Mutation_p.S292Y NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 292 TSP type-1 1. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCAGGTGAATCTGGTGTGGAA 0.433000 51 13 3.45872e-05 3.81476e-05 0.146539 1 0 TGM4 7047 broad.mit.edu 37 3 44948523 44948523 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr3:44948523C>T uc003coc.4 + 9 1231 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 386 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GATTCGTCTTCTCAGAAGTGA 0.507000 47 24 0 0 0.091800 0 0 WAS 7454 broad.mit.edu 37 X 48547271 48547271 + Missense_Mutation SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:48547271C>T uc004dkm.4 + 9 1211 c.1154C>T c.(1153-1155)cCc>cTc p.P385L NM_000377 NP_000368 P42768 WASP_HUMAN Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA. 385 Poly-Pro. T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCCCCTCCACCCCCTGGAGCT 0.741000 """Mis, N, F, S""" lymphoma 7 3 0 0 0.115264 0 0 RPS6KB1 6198 broad.mit.edu 37 17 58024091 58024091 + Missense_Mutation SNP A G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr17:58024091A>G uc002ixy.3 + 14 1623 c.1520A>G c.(1519-1521)aAa>aGa p.K507R RPS6KB1_uc010ddj.2_Intron|RPS6KB1_uc010wom.2_Missense_Mutation_p.K454R|RPS6KB1_uc010won.2_Missense_Mutation_p.K484R|RPS6KB1_uc010woo.2_Missense_Mutation_p.K442R NM_003161 NP_003152 P23443 KS6B1_HUMAN Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA. 507 Autoinhibitory domain. G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) GGGCCATACAAAAAACAAGCT 0.458000 52 25 0 0 0.134883 0 0 THBS4 7060 broad.mit.edu 37 5 79372739 79372739 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:79372739C>A uc021yaw.1 + 15 2145 c.1954C>A c.(1954-1956)Ctg>Atg p.L652M BC047373_uc003kgi.4_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN Homo sapiens thrombospondin 4 (THBS4), mRNA. 652 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CAGTGCCCAGCTGGACACCGA 0.547000 219 10 0.0809354 0.0825871 0.080935 1 0 PTCD2 79810 broad.mit.edu 37 5 71616252 71616252 + Silent SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr5:71616252C>A uc003kcb.3 + 0 53 c.43C>A c.(43-45)Cga>Aga p.R15R MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Silent_p.R15R|PTCD2_uc003kcd.3_Non-coding_Transcript NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA. 15 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) GCCCTCGAATCGAGTTCTCCT 0.627000 40 15 0.00074312 0.000779497 0.175082 1 0 DCAF6 55827 broad.mit.edu 37 1 167971768 167971768 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:167971768G>C uc001gew.3 + 7 1305 c.952G>C c.(952-954)Gat>Cat p.D318H DCAF6_uc001gex.3_Missense_Mutation_p.D318H|DCAF6_uc010plk.2_Missense_Mutation_p.D287H|DCAF6_uc001gev.3_Missense_Mutation_p.D318H|DCAF6_uc001gey.3_Missense_Mutation_p.D171H NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA. 318 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TGATTGGTCAGATACTGGACC 0.378000 122 36 0 0 0.139131 0 0 DARC 2532 broad.mit.edu 37 1 159175360 159175360 + Missense_Mutation SNP A T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:159175360A>T uc001ftp.4 + 0 312 c.137A>T c.(136-138)aAc>aTc p.N46I DARC_uc001fto.3_Missense_Mutation_p.N44I NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 44 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TATGGTGCCAACCTGGAAGCA 0.527000 76 15 0 0 0.132662 0 0 ATOH1 474 broad.mit.edu 37 4 94750467 94750467 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr4:94750467G>C uc003hta.1 + 0 390 c.390G>C c.(388-390)aaG>aaC p.K130N NM_005172 NP_005163 Q92858 ATOH1_HUMAN Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA. 130 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) AGCTGTGCAAGCTGAAAGGCG 0.667000 15 15 0 0 0.049695 0 0 EDDM3A 10876 broad.mit.edu 37 14 21216123 21216123 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr14:21216123C>T uc021rom.1 + 0 384 c.384C>T c.(382-384)ggC>ggT p.G128G EDDM3A_uc001vyc.3_Silent_p.G128G NM_006683 NP_006674 Q14507 EP3A_HUMAN Homo sapiens epididymal protein 3A (EDDM3A), mRNA. 128 sperm displacement extracellular space breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 TCCATTGTGGCGTAGATGGAT 0.438000 67 9 0 0 0.047766 0 0 GNAO1 2775 broad.mit.edu 37 16 56388866 56388866 + Missense_Mutation SNP C A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr16:56388866C>A uc002eiu.4 + 7 1863 c.966C>A c.(964-966)caC>caA p.H322Q NM_020988 NP_066268 P09471 GNAO_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 1, mRNA. 322 G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) TATATTGTCACATGACTTGTG 0.498000 57 7 0.000274275 0.000289727 0.047766 1 0 RYR2 6262 broad.mit.edu 37 1 237540689 237540689 + Missense_Mutation SNP T C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:237540689T>C uc001hyl.1 + 7 650 c.530T>C c.(529-531)gTt>gCt p.V177A NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 177 MIR 2. 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) AAAGTACGAGTTGGAGATGAC 0.438000 81 15 0 0 0.049695 0 0 NPAS4 266743 broad.mit.edu 37 11 66191992 66191992 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:66191992G>A uc001ohx.1 + 6 1807 c.1631G>A c.(1630-1632)aGc>aAc p.S544N NPAS4_uc010rpc.1_Missense_Mutation_p.S334N NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 544 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CACCTGGACAGCCCCAGCCAA 0.582000 255 4 0 0 0.150653 0 0 SLC22A23 63027 broad.mit.edu 37 6 3273470 3273470 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr6:3273470G>A uc003mvm.3 - 9 1880 c.1880C>T c.(1879-1881)cCt>cTt p.P627L AK096219_uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.P346L|SLC22A23_uc003mvo.3_Missense_Mutation_p.P346L|SLC22A23_uc003mvp.1_Non-coding_Transcript NM_015482 NP_068764 A1A5C7 S22AN_HUMAN Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA. 627 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) AATGTTCTCAGGCAGGTTCTG 0.597000 153 27 0 0 0.173368 0 0 KCNT2 343450 broad.mit.edu 37 1 196227553 196227553 + Missense_Mutation SNP G C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:196227553G>C uc001gtd.1 - 25 3042 c.2982C>G c.(2980-2982)agC>agG p.S994R KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S927R|KCNT2_uc001gtf.1_Missense_Mutation_p.S970R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.S498R NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 994 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGCGGTGGTTGCTGCGGTGGT 0.468000 104 24 0 0 0.116897 0 0 SND1 27044 broad.mit.edu 37 7 127343357 127343357 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:127343357C>G uc003vmi.3 + 6 1046 c.820C>G c.(820-822)Ctg>Gtg p.L274V NM_014390 NP_055205 Q7KZF4 SND1_HUMAN Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. 274 TNase-like 2. L -> V (in Ref. 1; AAA80488). gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|melanosome|nucleus 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 CCAGAACATTCTGGGTACCAT 0.488000 77 19 0 0 0.091800 0 0 PREX2 80243 broad.mit.edu 37 8 69103986 69103986 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:69103986C>G uc003xxv.1 + 35 4403 c.4376C>G c.(4375-4377)cCa>cGa p.P1459R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1459 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCAAATTCACCACCAAACTCC 0.308000 77 13 0 0 0.049695 0 0 MOV10L1 54456 broad.mit.edu 37 22 50553006 50553006 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr22:50553006C>G uc003bjj.3 + 6 1164 c.1081C>G c.(1081-1083)Cag>Gag p.Q361E MOV10L1_uc003bjk.4_Missense_Mutation_p.Q361E|MOV10L1_uc011arp.2_Missense_Mutation_p.Q341E|MOV10L1_uc011arq.1_Missense_Mutation_p.Q122E|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 361 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CAAAACCTCTCAGATGTCGGA 0.478000 40 8 0 0 0.038147 0 0 CSMD3 114788 broad.mit.edu 37 8 113529334 113529334 + Missense_Mutation SNP C G G TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr8:113529334C>G uc003ynu.3 - 27 4844 c.4685G>C c.(4684-4686)gGa>gCa p.G1562A CSMD3_uc003yns.3_Missense_Mutation_p.G834A|CSMD3_uc003ynt.3_Missense_Mutation_p.G1522A|CSMD3_uc011lhx.2_Missense_Mutation_p.G1458A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1562 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTTTCCTCTCCTTGAAGTTC 0.448000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 92 25 0 0 0.163468 0 0 PLCB4 5332 broad.mit.edu 37 20 9424678 9424678 + Splice_Site SNP G T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr20:9424678G>T uc021wam.1 + 27 2793 c.2778_splice c.e27+1 p.K926_splice PLCB4_uc010gbw.1_Splice_Site_p.K926_splice|PLCB4_uc010gbx.3_Splice_Site_p.K938_splice|PLCB4_uc021wal.1_Splice_Site_p.K926_splice|PLCB4_uc002wnh.3_Splice_Site_p.K773_splice NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 926 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GCAGATGAAGGTAAAATTGCT 0.303000 68 8 0.00621372 0.00642798 0.058154 1 0 DIAPH2 1730 broad.mit.edu 37 X 96369879 96369879 + Missense_Mutation SNP A T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chrX:96369879A>T uc004efu.4 + 20 2900 c.2504A>T c.(2503-2505)gAg>gTg p.E835V DIAPH2_uc004eft.4_Missense_Mutation_p.E835V NM_006729 NP_006720 O60879 DIAP2_HUMAN Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA. 835 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus Rho GTPase binding|receptor binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 AGACTTTTAGAGTTAGTTCTT 0.358000 14 10 0 0 0.058154 0 0 ELK3 2004 broad.mit.edu 37 12 96617393 96617393 + Missense_Mutation SNP G A A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr12:96617393G>A uc001teo.1 + 1 328 c.49G>A c.(49-51)Gat>Aat p.D17N NM_005230 NP_005221 P41970 ELK3_HUMAN Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA. 17 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) GTTGCTGCTGGATCAGAAACA 0.532000 72 18 0 0 0.043863 0 0 FLG2 388698 broad.mit.edu 37 1 152328035 152328035 + Missense_Mutation SNP A C C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:152328035A>C uc001ezw.4 - 2 2300 c.2227T>G c.(2227-2229)Tct>Gct p.S743A AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 743 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAGCCAGAGGACTGACCT 0.507000 391 7 0 0 0.029380 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580582 40580582 + Silent SNP C T T TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr19:40580582C>T uc010xvh.2 - 5 1918 c.1770G>A c.(1768-1770)gaG>gaA p.E590E ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.E589E|ZNF780A_uc002omz.3_Silent_p.E589E NM_001142577 NP_001136049 O75290 Z780A_HUMAN Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA. 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTTCCCACACTCCTTACATT 0.393000 230 4 0 0 0.014758 0 0 CD247 919 broad.mit.edu 37 1 167408580 167408580 + Splice_Site DEL C - - TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr1:167408580delC uc001gei.4 - 3 364 c.219_splice c.e3+1 p.N73_splice CD247_uc001gej.4_Splice_Site_p.N73_splice|CD247_uc001gek.2_Splice_Site_p.N73_splice NM_198053 NP_932170 P20963 CD3Z_HUMAN Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA. 73 ITAM 1. T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(543;0.236) GGCTGACTTACGTTATAGAGC 0.622 --- 175 --- --- 31 --- WIPF1 7456 broad.mit.edu 37 2 175440027 175440041 + In_Frame_Del DEL CCTCCGCCACCACCT - - TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr2:175440027_175440041delCCTCCGCCACCACCT uc002uiz.3 - 3 349_363 c.249_263delAGGTGGTGGCGGAGG c.(247-264)ggaggtggtggcggaggc>ggc p.83_88GGGGGG>G BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc010fqt.1_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc002ujc.1_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc002ujb.2_In_Frame_Del_p.83_88GGGGGG>G|WIPF1_uc010zep.1_In_Frame_Del_p.83_88GGGGGG>G NM_003387 NP_003378 O43516 WIPF1_HUMAN Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA. 83 Gly-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding p.G82R(1)|p.G83E(1) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 acttccaccgcctccgccaccacctcctccgccaa 0.600 --- 83 --- --- 34 --- MEPCE 56257 broad.mit.edu 37 7 100028370 100028392 + Frame_Shift_Del DEL TTGCACTGATGAGGGCCATGTAG - - TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr7:100028370_100028392delTTGCACTGATGAGGGCCATGTAG uc003uuw.3 + 0 1117_1139 c.729_751delTTGCACTGATGAGGGCCATGTAG c.(727-753)acttgcactgatgagggccatgtagttfs p.T243fs ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 243 methyltransferase activity p.H249P(2)|p.T243A(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCTCAATACTTGCACTGATGAGGGCCATGTAGTTCTTGCTTC 0.592 --- 398 --- --- 22 --- OR5D13 390142 broad.mit.edu 37 11 55541558 55541565 + Frame_Shift_Del DEL CATTCTGA - - TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27fe0dd4-09fc-4c5b-89e9-bacdfddb1722 0e516b54-0c82-4a60-a7bd-d2de9940daf4 g.chr11:55541558_55541565delCATTCTGA uc010ril.2 + 0 645_652 c.645_652delCATTCTGA c.(643-654)atcattctgacafs p.I215fs NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCCTAATTATCATTCTGACATCATATAT 0.442 --- 105 --- --- 13 ---