Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TENC1 23371 broad.mit.edu 37 12 53454578 53454578 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:53454578G>T ENST00000314250.6 + 20 3178 c.2888G>T c.(2887-2889)gGa>gTa p.G963V TENC1_ENST00000546602.1_Missense_Mutation_p.G866V|TENC1_ENST00000552570.1_Missense_Mutation_p.G963V|TENC1_ENST00000379902.3_Missense_Mutation_p.G839V|TENC1_ENST00000451358.1_Missense_Mutation_p.G953V|TENC1_ENST00000549700.1_Missense_Mutation_p.G898V|TENC1_ENST00000314276.3_Missense_Mutation_p.G973V NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 963 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CTGCCGTCGGGAAGTGGGCCT 0.677000 4 16 0.150653 0.150653 1 1 0 RBMXL1 494115 broad.mit.edu 37 1 89448933 89448933 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:89448933G>C ENST00000399794.2 - 3 1292 c.577C>G c.(577-579)Cca>Gca p.P193A RBMXL1_ENST00000321792.5_Missense_Mutation_p.P193A|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 193 nucleotide binding|RNA binding CTTCGAGGTGGACCTCCATAA 0.488000 4 131 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27374684 27374684 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:27374684C>T ENST00000395762.2 + 11 2270 c.2011C>T c.(2011-2013)Cca>Tca p.P671S IL4R_ENST00000380922.3_Missense_Mutation_p.P656S|IL4R_ENST00000543915.2_Missense_Mutation_p.P671S|IL4R_ENST00000170630.2_Missense_Mutation_p.P671S NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 671 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTCACATCTCCCAAGCAGCTC 0.642000 9 47 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183906908 183906908 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:183906908C>G ENST00000429586.2 + 10 1195 c.1010C>G c.(1009-1011)gCc>gGc p.A337G EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.A331G NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 337 ABC transporter 1. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGAGGCTGGCCCTGGCCCGG 0.562000 8 20 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039691 2039691 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:2039691G>T ENST00000382203.1 + 4 790 c.581G>T c.(580-582)cGa>cTa p.R194L SMARCA2_ENST00000357248.2_Missense_Mutation_p.R194L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R194L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R194L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 194 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATGCTGGCCCGAGGCCAGCCC 0.587000 5 29 0.000602214 0.000662772 1 1 0 SH2D4B 387694 broad.mit.edu 37 10 82329944 82329944 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:82329944G>T ENST00000339284.2 + 2 649 c.219G>T c.(217-219)ggG>ggT p.G73G SH2D4B_ENST00000470604.2_Silent_p.G72G|SH2D4B_ENST00000313455.4_Silent_p.G24G NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 72 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) GGCTCCTAGGGGCAGATGGCG 0.517000 24 102 4.47668e-21 6.7321e-21 1 1 0 PLSCR5 389158 broad.mit.edu 37 3 146309535 146309535 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:146309535C>T ENST00000443512.1 - 5 1590 c.587G>A c.(586-588)tGt>tAt p.C196Y PLSCR5_ENST00000492200.1_Missense_Mutation_p.C196Y|PLSCR5_ENST00000482567.1_Missense_Mutation_p.C184Y NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 196 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 AAAACAGCCACATGTCACACA 0.348000 4 23 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14101549 14101549 + RNA SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:14101549C>A ENST00000310358.7 + 0 1193 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding p.H219N(1) NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CGAGAAGACACACCCAAAGGA 0.488000 10 52 4.68919e-08 5.80988e-08 1 1 0 CHRM3 1131 broad.mit.edu 37 1 240071045 240071045 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:240071045G>T ENST00000255380.4 + 5 1073 c.294G>T c.(292-294)caG>caT p.Q98H NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 98 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TCAACAAGCAGCTGAAGACGG 0.468000 17 36 2.4624e-09 3.17054e-09 1 1 0 PPP2R2C 5522 broad.mit.edu 37 4 6383531 6383531 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:6383531C>A ENST00000335585.5 - 1 66 c.43G>T c.(43-45)Ggc>Tgc p.G15C PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000515571.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000382599.4_Intron NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 0 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CAGGGCTGGCCTTCCTGGATG 0.537000 12 76 0.0135373 0.0138898 1 1 0 CLVS1 157807 broad.mit.edu 37 8 62289263 62289263 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:62289263C>A ENST00000519846.1 + 4 1027 c.555C>A c.(553-555)gaC>gaA p.D185E CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.D185E Q8IUQ0 CLVS1_HUMAN clavesin 1 185 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TAATTATAGACTGGAGTAATT 0.423000 19 58 0.000958276 0.00104878 1 1 0 MPDZ 8777 broad.mit.edu 37 9 13216825 13216825 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:13216825C>A ENST00000319217.7 - 10 1485 c.1238G>T c.(1237-1239)aGc>aTc p.S413I MPDZ_ENST00000381015.4_Missense_Mutation_p.S413I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S413I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S413I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S413I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S413I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S413I NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 413 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) AACGGCACTGCTTTTTGTAAT 0.318000 7 26 3.09899e-07 3.7e-07 1 1 0 RNLS 55328 broad.mit.edu 37 10 90342049 90342049 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:90342049G>C ENST00000371947.3 - 2 1473 c.134C>G c.(133-135)aCa>aGa p.T45R RNLS_ENST00000331772.4_Missense_Mutation_p.T45R|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Intron NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 45 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 ACTGCAGGCTGTAGTCATTCT 0.443000 7 28 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26520352 26520352 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:26520352G>T ENST00000456354.2 + 3 499 c.432G>T c.(430-432)tgG>tgT p.W144C NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 144 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TCCTTGGCTGGCTCAATGGCT 0.507000 14 95 1.3612e-06 1.60573e-06 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 92 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27293105 27293105 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:27293105C>A ENST00000360131.4 + 15 2794 c.2635C>A c.(2635-2637)Cca>Aca p.P879T NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 879 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAATCTCCCCCACTGACTGT 0.498000 23 73 9.57634e-11 1.26613e-10 1 1 0 TTLL7 79739 broad.mit.edu 37 1 84415555 84415555 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:84415555T>A ENST00000260505.8 - 4 649 c.272A>T c.(271-273)aAt>aTt p.N91I TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 91 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TACCTGATAATTTTGCAGCTC 0.338000 6 45 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242189 87242189 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:87242189C>A ENST00000297524.3 - 1 421 c.318G>T c.(316-318)ggG>ggT p.G106G SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.G106G NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 106 integral to membrane amino acid transmembrane transporter activity p.G106G(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CAGCAACTACCCCTGACCCCA 0.493000 4 29 0.00116845 0.00125783 1 1 0 SHOX 6473 broad.mit.edu 37 X 591804 591804 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:591804G>C ENST00000381578.1 + 2 863 c.172G>C c.(172-174)Gac>Cac p.D58H SHOX_ENST00000334060.3_Missense_Mutation_p.D58H|SHOX_ENST00000554971.1_Missense_Mutation_p.D58H|SHOX_ENST00000381575.1_Missense_Mutation_p.D58H NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 58 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGCCTCCAGGACATCACGGA 0.602000 20 83 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32640261 32640261 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:32640261C>G ENST00000421745.2 + 10 2036 c.1902C>G c.(1900-1902)agC>agG p.S634R NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 634 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTCTTTATAGCATCAAGGAAT 0.363000 7 17 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56763464 56763464 + Silent SNP G G A rs139388844 byFrequency TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:56763464G>A ENST00000267460.4 + 6 1129 c.843G>A c.(841-843)cgG>cgA p.R281R NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 281 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 ACGCCGCCCGGCCTCAGTGTC 0.582000 13 33 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614887 36614887 + Nonsense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:36614887G>A ENST00000311485.3 - 2 993 c.832C>T c.(832-834)Cag>Tag p.Q278* NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 278 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTTTCAAGCTGATAGCCACCA 0.423000 Familial Hemophagocytic Lymphohistiocytosis 6 75 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124353097 124353097 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:124353097G>A ENST00000368909.3 + 21 2619 c.2513G>A c.(2512-2514)cGg>cAg p.R838Q DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.R838Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R828Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R828Q|DMBT1_ENST00000368956.2_Intron NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 838 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCCAGTCCCGGCCGACACCC 0.522000 53 347 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18716397 18716397 + Missense_Mutation SNP A A C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:18716397A>C ENST00000433979.1 + 27 3860 c.3744A>C c.(3742-3744)caA>caC p.Q1248H PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q1248H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q1289H NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1248 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTCACAGCCAACTTCAGAAGC 0.403000 4 79 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712645 70712645 + RNA SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:70712645A>T ENST00000530196.1 - 0 1873 NR_003951.1 CTGCAAAGTAAAATGATCTTG 0.393000 25 84 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18680333 18680333 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:18680333C>A ENST00000380548.4 + 11 1499 c.1160C>A c.(1159-1161)gCg>gAg p.A387E ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A370E|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A387E|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A387E NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 387 TSP type-1 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCATGGACCGCGTGCTCCTCC 0.602000 9 25 1.12685e-05 1.29818e-05 1 1 0 ETV1 2115 broad.mit.edu 37 7 13971233 13971233 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:13971233G>A ENST00000343495.5 - 8 1380 c.642C>T c.(640-642)caC>caT p.H214H ETV1_ENST00000405218.2_Silent_p.H232H|ETV1_ENST00000420159.2_Silent_p.H174H|ETV1_ENST00000403527.1_Silent_p.H192H|ETV1_ENST00000430479.1_Silent_p.H232H|ETV1_ENST00000399357.3_Silent_p.H129H|ETV1_ENST00000405192.2_Silent_p.H232H|ETV1_ENST00000242066.5_Silent_p.H214H|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.H214H|ETV1_ENST00000405358.4_Silent_p.H246H P50549 ETV1_HUMAN ets variant 1 232 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H232H(1) TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACACTGGGTCGTGGTACTCCT 0.522000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 9 37 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78401192 78401192 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:78401192C>A ENST00000397909.2 + 8 2047 c.1874C>A c.(1873-1875)cCg>cAg p.P625Q NAV3_ENST00000536525.2_Missense_Mutation_p.P625Q|NAV3_ENST00000266692.7_Missense_Mutation_p.P625Q|NAV3_ENST00000228327.6_Missense_Mutation_p.P625Q Q8IVL0 NAV3_HUMAN neuron navigator 3 625 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.P625Q(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATAGCCACCCGAATACCGCG 0.478000 HNSCC(70;0.22) 26 122 1.17739e-12 1.64501e-12 1 1 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679151 37679151 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr13:37679151C>T ENST00000379800.3 - 1 652 c.243G>A c.(241-243)caG>caA p.Q81Q NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 81 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TGTCTTTTTCCTGACCATACC 0.468000 17 68 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34526674 34526674 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:34526674G>T ENST00000374012.3 + 16 2485 c.2356G>T c.(2356-2358)Ggg>Tgg p.G786W PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) ACAGCACTCAGGGGAGGGGAG 0.547000 15 132 1.52009e-12 2.09411e-12 1 1 0 MITF 4286 broad.mit.edu 37 3 69987132 69987132 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:69987132G>T ENST00000352241.4 + 3 677 c.514G>T c.(514-516)Gtg>Ttg p.V172L MITF_ENST00000472437.1_Missense_Mutation_p.V120L|MITF_ENST00000394351.3_Missense_Mutation_p.V65L|MITF_ENST00000314589.5_Missense_Mutation_p.V156L|MITF_ENST00000328528.6_Missense_Mutation_p.V171L|MITF_ENST00000314557.6_Missense_Mutation_p.V65L|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Missense_Mutation_p.V172L|MITF_ENST00000394355.2_Missense_Mutation_p.V147L NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 172 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CATGCCACCGGTGCCGGGGAG 0.507000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 10 57 1.52009e-12 2.09411e-12 1 1 0 ACVR1 90 broad.mit.edu 37 2 158637031 158637031 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:158637031C>A ENST00000263640.3 - 4 578 c.149G>T c.(148-150)gGc>gTc p.G50V ACVR1_ENST00000409283.2_Missense_Mutation_p.G50V|ACVR1_ENST00000434821.1_Missense_Mutation_p.G50V|ACVR1_ENST00000410057.2_Missense_Mutation_p.G50V|ACVR1_ENST00000487456.1_5'UTR NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 50 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) GCACTGCTGGCCTTCACAGTG 0.507000 8 70 2.17888e-05 2.48115e-05 1 1 0 SBSN 374897 broad.mit.edu 37 19 36019165 36019165 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:36019165C>A ENST00000452271.2 - 1 47 c.19G>T c.(19-21)Gtc>Ttc p.V7F SBSN_ENST00000518157.1_Missense_Mutation_p.V7F NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 7 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGGAGCCGACCAGACGTGCA 0.592000 12 22 7.03913e-09 8.88915e-09 1 1 0 IGKV1D-8 28904 broad.mit.edu 37 2 90259808 90259808 + RNA SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:90259808T>A ENST00000471857.1 + 0 216 CTCCTGGGGCTCCTGCTGCTC 0.537000 4 213 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567400 5567400 + Missense_Mutation SNP G G C rs71531321 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:5567400G>C ENST00000331789.5 - 6 1298 c.1107C>G c.(1105-1107)atC>atG p.I369M ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 369 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGCGGTGGACGATGGAGGGGC 0.537000 26 241 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57717908 57717908 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:57717908C>T ENST00000333493.4 + 9 1107 c.946C>T c.(946-948)Ctg>Ttg p.L316L RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L196L|GPR97_ENST00000327655.6_Silent_p.L106L NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 316 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGTGGCAGCCTGTTCCTCCT 0.602000 26 57 0 0 1 0 0 CDK5R2 8941 broad.mit.edu 37 2 219825610 219825610 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:219825610C>A ENST00000302625.4 + 1 1234 c.1068C>A c.(1066-1068)gcC>gcA p.A356A AC097468.7_ENST00000429343.1_RNA NM_003936.4 NP_003927.1 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 (p39) 356 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGCGCGGCCGGAACCAAGC 0.751000 6 9 0.00116845 0.00125783 1 1 0 GPHA2 170589 broad.mit.edu 37 11 64702312 64702312 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:64702312C>T ENST00000279168.2 - 4 377 c.323G>A c.(322-324)aGg>aAg p.R108K GPHA2_ENST00000533257.1_Missense_Mutation_p.R108K NM_130769.3 NP_570125.1 Q96T91 GPHA2_HUMAN glycoprotein hormone alpha 2 108 extracellular region hormone activity central_nervous_system(1)|endometrium(1)|prostate(1) 3 GAGCTCCTCCCTCCGGCTCCC 0.617000 21 68 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869067 52869067 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:52869067T>A ENST00000601151.1 + 5 759 c.307T>A c.(307-309)Tac>Aac p.Y103N ZNF610_ENST00000321287.8_Missense_Mutation_p.Y146N|ZNF610_ENST00000327920.8_Missense_Mutation_p.Y146N|ZNF610_ENST00000403906.3_Missense_Mutation_p.Y146N NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AAGGAAAATTTACAGAAGTAA 0.348000 16 124 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798753 55798753 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:55798753C>A ENST00000313555.1 + 1 859 c.859C>A c.(859-861)Cca>Aca p.P287T NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P287T(1) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) CATGTTTAATCCAATAATTTA 0.343000 4 30 1.024e-07 1.2608e-07 1 1 0 WNT8B 7479 broad.mit.edu 37 10 102242322 102242322 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:102242322G>A ENST00000343737.5 + 6 933 c.805G>A c.(805-807)Ggc>Agc p.G269S NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 269 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) GGGCACCGAAGGCCGAGAGTG 0.706000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108128265 108128265 + Nonsense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:108128265G>T ENST00000278616.4 + 15 2693 c.2308G>T c.(2308-2310)Gaa>Taa p.E770* ATM_ENST00000452508.2_Nonsense_Mutation_p.E770* NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 770 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E770*(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GACAAATGAGGAATTCAGAAT 0.328000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 21 48 3.01185e-09 3.85282e-09 1 1 0 AP3D1 8943 broad.mit.edu 37 19 2114778 2114778 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:2114778G>A ENST00000355272.6 - 21 2598 c.2392C>T c.(2392-2394)Ccc>Tcc p.P798S AP3D1_ENST00000356926.4_Missense_Mutation_p.P707S|AP3D1_ENST00000350812.6_Missense_Mutation_p.P629S|AP3D1_ENST00000345016.5_Missense_Mutation_p.P798S NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 798 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCTGTAGGGGTCGTTGGGG 0.582000 9 84 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72166806 72166806 + Nonsense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:72166806C>A ENST00000537465.1 - 10 1446 c.1288G>T c.(1288-1290)Gag>Tag p.E430* PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E430*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E285* Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 430 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTCCAGCTCCTTCTCCTTT 0.512000 48 89 1.22102e-19 1.82227e-19 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70319334 70319334 + Silent SNP G G A rs145731249 by1000genomes TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:70319334G>A ENST00000338508.4 - 33 5192 c.5193C>T c.(5191-5193)acC>acT p.T1731T SHANK2_ENST00000409161.1_Silent_p.T1134T|SHANK2_ENST00000449833.2_Silent_p.T1135T|SHANK2_ENST00000423696.2_Silent_p.T1351T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1351 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AAGGAGAGGCGGTGGCAGCAG 0.597000 16 99 0 0 1 0 0 CST4 1472 broad.mit.edu 37 20 23667775 23667775 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:23667775G>T ENST00000217423.3 - 2 362 c.292C>A c.(292-294)Cag>Aag p.Q98K NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 98 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) AAGTTGGGCTGGGACTTGGTA 0.582000 21 192 7.26314e-15 1.05209e-14 1 1 0 FAM168A 23201 broad.mit.edu 37 11 73141755 73141755 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:73141755T>A ENST00000064778.4 - 3 415 c.131A>T c.(130-132)aAt>aTt p.N44I FAM168A_ENST00000450446.2_Missense_Mutation_p.N44I|FAM168A_ENST00000356467.4_Missense_Mutation_p.N44I Q92567 F168A_HUMAN family with sequence similarity 168, member A 44 endometrium(3)|kidney(1)|lung(1) 5 ACTGGGACTATTGGTGGGGTA 0.507000 54 106 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23886428 23886428 + Nonsense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:23886428T>A ENST00000355349.3 - 32 4615 c.4453A>T c.(4453-4455)Aag>Tag p.K1485* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1485 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TAGGCGTTCTTGAGTTTGAAG 0.592000 18 157 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67590998 67590998 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:67590998T>C ENST00000521381.1 + 13 2207 c.1591T>C c.(1591-1593)Ttg>Ctg p.L531L PIK3R1_ENST00000521657.1_Silent_p.L531L|PIK3R1_ENST00000320694.8_Silent_p.L231L|PIK3R1_ENST00000274335.5_Silent_p.L531L|PIK3R1_ENST00000336483.5_Silent_p.L261L|PIK3R1_ENST00000396611.1_Silent_p.L531L|PIK3R1_ENST00000523872.1_Silent_p.L168L NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 531 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTATGATAAGTTGAAGTCTCG 0.363000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 6 43 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947181 237947181 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:237947181C>G ENST00000366574.2 + 90 12486 c.12169C>G c.(12169-12171)Cac>Gac p.H4057D RYR2_ENST00000542537.1_Missense_Mutation_p.H4041D|RYR2_ENST00000360064.6_Missense_Mutation_p.H4063D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4057 EF-hand. 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) GAGCCATAAGCACTACACGCA 0.468000 5 23 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230556 147230556 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:147230556G>T ENST00000271348.2 - 2 952 c.791C>A c.(790-792)cCc>cAc p.P264H GJA5_ENST00000369237.1_Missense_Mutation_p.P264H NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 264 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) AAAGTCGGGGGGTGGTGTGCA 0.527000 18 98 5.03518e-11 6.74783e-11 1 1 0 MORC1 27136 broad.mit.edu 37 3 108829596 108829596 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:108829596C>A ENST00000232603.5 - 3 236 c.154_splice c.e3+1 p.V52_splice MORC1_ENST00000483760.1_Splice_Site_p.V52_splice NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 52 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATCTGCTCACCTGAAAAGACA 0.294000 3 18 0.00024832 0.000277949 1 1 0 OCA2 4948 broad.mit.edu 37 15 28235784 28235784 + Nonsense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:28235784T>A ENST00000354638.3 - 10 1209 c.1054A>T c.(1054-1056)Aga>Tga p.R352* OCA2_ENST00000353809.5_Intron|OCA2_ENST00000382996.2_Nonsense_Mutation_p.R352* NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 352 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCCAGAGTTCTGTGCACGATC 0.542000 Oculocutaneous Albinism 28 129 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128384580 128384580 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:128384580C>T ENST00000389524.4 + 31 4221 c.4168C>T c.(4168-4170)Ctg>Ttg p.L1390L MYO7B_ENST00000409816.2_Silent_p.L1390L|MYO7B_ENST00000409090.1_Silent_p.L243L|MYO7B_ENST00000428314.1_Silent_p.L1390L Q6PIF6 MYO7B_HUMAN myosin VIIB 1390 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGTCACACCACTGGCCGTGCG 0.612000 5 12 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70480191 70480191 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:70480191G>T ENST00000381280.4 + 10 1282 c.1029G>T c.(1027-1029)gcG>gcT p.A343A SMOC1_ENST00000361956.3_Silent_p.A343A NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 343 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACTCAGCAGCGCCCACTGGAG 0.512000 OREG0022771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 89 0.00829132 0.00859679 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31324952 31324952 + Missense_Mutation SNP A A C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:31324952A>C ENST00000269197.5 + 12 5140 c.5140A>C c.(5140-5142)Agt>Cgt p.S1714R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1714 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTCCACCTCAAGTCCCATGGA 0.552000 20 68 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7910764 7910764 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:7910764A>G ENST00000254854.4 + 6 1634 c.1484A>G c.(1483-1485)cAa>cGa p.Q495R NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 495 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CTTCACATGCAAATGGTCTCC 0.597000 20 121 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512610 248512610 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:248512610C>T ENST00000317861.1 + 1 534 c.534C>T c.(532-534)gaC>gaT p.D178D NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TCTTCTGTGACATCCCCTCTC 0.512000 24 61 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47060987 47060987 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:47060987G>T ENST00000335972.6 + 8 972 c.789G>T c.(787-789)caG>caT p.Q263H UBA1_ENST00000377351.4_Missense_Mutation_p.Q263H NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 263 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACGGAAATCAGCCCATGGAGA 0.552000 14 9 1.37285e-15 2.03347e-15 1 1 0 ANK1 286 broad.mit.edu 37 8 41522415 41522415 + Nonsense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:41522415C>A ENST00000457297.1 - 1 389 c.127G>T c.(127-129)Gag>Tag p.E43* ANK1_ENST00000522543.1_Nonsense_Mutation_p.E43*|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522231.1_Nonsense_Mutation_p.E43*|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000314214.8_Nonsense_Mutation_p.E43* NM_020480.4 NP_065213.2 P16157 ANK1_HUMAN ankyrin 1, erythrocytic 35 89 kDa 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) TTGTCCAGCTCCTGGTGGATG 0.612000 4 32 1.23904e-05 1.41913e-05 1 1 0 SLC27A4 10999 broad.mit.edu 37 9 131118034 131118034 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:131118034G>T ENST00000300456.3 + 12 1850 c.1733G>T c.(1732-1734)cGc>cTc p.R578L SLC27A4_ENST00000372870.1_Missense_Mutation_p.R172L NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 578 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 CTGTATGCGCGCCCCATCTTC 0.637000 26 82 9.65021e-13 1.35792e-12 1 1 0 OR7C2 26658 broad.mit.edu 37 19 15053212 15053212 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:15053212C>A ENST00000248072.3 + 1 912 c.912C>A c.(910-912)ctC>ctA p.L304L NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) GGAGACTCCTCCTCAGGGCAA 0.527000 6 58 0.0215528 0.0217738 1 1 0 HLA-C 3107 broad.mit.edu 37 6 31238055 31238055 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:31238055C>A ENST00000383329.3 - 4 841 c.827G>T c.(826-828)gGa>gTa p.G276V HLA-C_ENST00000376228.5_Missense_Mutation_p.G276V Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 276 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CTGCTCTTGTCCAGAAGGCAC 0.607000 5 19 0.00116845 0.00125783 1 1 0 RFX1 5989 broad.mit.edu 37 19 14076266 14076266 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:14076266C>A ENST00000254325.4 - 16 2440 c.2206G>T c.(2206-2208)Gtg>Ttg p.V736L NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 736 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CTCACCTTCACCCGCAGCATC 0.617000 45 148 6.4308e-24 9.89741e-24 1 1 0 HTR5A 3361 broad.mit.edu 37 7 154875951 154875951 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:154875951G>A ENST00000287907.2 + 2 1404 c.828G>A c.(826-828)cgG>cgA p.R276R HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 276 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ACACGTGGCGGGAGCAGAAGG 0.612000 3 47 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197584364 197584364 + Silent SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:197584364A>T ENST00000389175.4 + 19 2274 c.2139A>T c.(2137-2139)tcA>tcT p.S713S CCDC150_ENST00000409270.1_Silent_p.S200S|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.S360S NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 713 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GGAGGGATTCAGAGATTGCAG 0.438000 5 18 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528750 20528750 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:20528750C>A ENST00000315683.1 + 1 547 c.547C>A c.(547-549)Ctt>Att p.L183I NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGATCTTCCCCTTGTGATCAA 0.398000 17 200 1.33834e-09 1.73455e-09 1 1 0 USP17L2 377630 broad.mit.edu 37 8 11994973 11994973 + Missense_Mutation SNP T T G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:11994973T>G ENST00000333796.3 - 1 1613 c.1297A>C c.(1297-1299)Acc>Ccc p.T433P FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 433 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TGGTCTAAGGTGCTTTCCTGA 0.542000 9 32 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672130 49672130 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:49672130G>T ENST00000561648.1 - 4 986 c.933C>A c.(931-933)ctC>ctA p.L311L ZNF423_ENST00000563137.2_Silent_p.L251L|ZNF423_ENST00000562520.1_Silent_p.L251L|ZNF423_ENST00000535559.1_Silent_p.L194L|ZNF423_ENST00000262383.2_Silent_p.L311L|ZNF423_ENST00000562871.1_Silent_p.L251L|ZNF423_ENST00000567169.1_Silent_p.L194L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 311 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGATATGGGCGAGCAGTGTGT 0.607000 19 40 1.96292e-10 2.5609e-10 1 1 0 RABGGTB 5876 broad.mit.edu 37 1 76253189 76253189 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:76253189C>G ENST00000319942.3 + 2 82 c.11C>G c.(10-12)cCa>cGa p.P4R RABGGTB_ENST00000370826.3_Missense_Mutation_p.P4R|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 4 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 AAGGGCACTCCACAGAAGGAT 0.378000 9 50 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1755170 1755170 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:1755170C>G ENST00000397196.2 + 5 1064 c.832C>G c.(832-834)Ctg>Gtg p.L278V WNT5B_ENST00000310594.3_Missense_Mutation_p.L278V|WNT5B_ENST00000537031.1_Missense_Mutation_p.L278V|WNT5B_ENST00000545747.1_3'UTR NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 278 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CCCGGAGGACCTGGTCTATGT 0.687000 14 44 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102835488 102835488 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:102835488A>G ENST00000264257.2 + 7 926 c.800A>G c.(799-801)aAc>aGc p.N267S IL1RL2_ENST00000441515.2_Missense_Mutation_p.N149S|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.N267S NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 267 Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGAGTCAATAACACTTTGGTG 0.378000 15 92 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96233568 96233568 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:96233568G>A ENST00000277165.6 + 2 814 c.620G>A c.(619-621)cGg>cAg p.R207Q FAM120A_ENST00000333936.5_Missense_Mutation_p.R207Q|FAM120A_ENST00000375389.3_Missense_Mutation_p.R207Q|FAM120A_ENST00000340893.4_Missense_Mutation_p.R207Q NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 207 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAACTGAGCCGGAACGGGAAA 0.458000 11 75 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058115 56058115 + Missense_Mutation SNP C C A rs142532321 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:56058115C>A ENST00000313022.2 - 1 451 c.424G>T c.(424-426)Gct>Tct p.A142S NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A142T(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GTGACAAGAGCGCAACACAGC 0.443000 10 47 1.76689e-08 2.21706e-08 1 1 0 OR52A1 23538 broad.mit.edu 37 11 5172979 5172979 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:5172979G>A ENST00000380367.1 - 2 1038 c.621C>T c.(619-621)ttC>ttT p.F207F OR52A1_ENST00000328942.1_Silent_p.F207F Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 207 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCTACAGTGAAGGCCACAA 0.423000 16 101 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758643 77758643 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:77758643G>A ENST00000310942.4 + 5 1505 c.1401G>A c.(1399-1401)tcG>tcA p.S467S NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 467 Poly-Ser. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GTAGCAGCTCGGACTCCGACC 0.682000 8 21 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19906467 19906467 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:19906467T>A ENST00000443905.2 - 4 376 c.229A>T c.(229-231)Atg>Ttg p.M77L ZNF506_ENST00000540806.2_Missense_Mutation_p.M77L|ZNF506_ENST00000450683.2_Missense_Mutation_p.M45L|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron Q5JVG8 ZN506_HUMAN zinc finger protein 506 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 TGAGAATACATAACTGAAAGA 0.303000 9 22 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25771165 25771165 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:25771165G>T ENST00000377905.4 + 6 750 c.631G>T c.(631-633)Ggg>Tgg p.G211W SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 211 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTCAATGCTGGGGTCCTTCAT 0.493000 33 121 2.19489e-29 3.40467e-29 1 1 0 ASMT 438 broad.mit.edu 37 X 1746629 1746629 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:1746629C>A ENST00000381241.3 + 4 607 c.408C>A c.(406-408)ggC>ggA p.G136G ASMT_ENST00000381229.4_Silent_p.G136G|ASMT_ENST00000381233.3_Silent_p.G136G NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 136 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGACGTTTGGCGTTCCCGCTG 0.378000 22 169 4.7796e-09 6.07472e-09 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201029913 201029913 + Missense_Mutation SNP C C T rs142102094 by1000genomes TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:201029913C>T ENST00000362061.3 - 26 3513 c.3287G>A c.(3286-3288)cGc>cAc p.R1096H CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1096H NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1096 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.R1096H(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCAGTGGGCGGGCCTTCAG 0.532000 5 368 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 436408 436408 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:436408G>A ENST00000264554.6 - 6 797 c.798C>T c.(796-798)taC>taT p.Y266Y NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 266 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGGCGACGTAGGCCACGT 0.716000 7 54 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280504 152280504 + Silent SNP G G A rs141571186 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:152280504G>A ENST00000368799.1 - 3 6893 c.6858C>T c.(6856-6858)caC>caT p.H2286H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2286 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCTTCGTGATGGGACC 0.557000 Ichthyosis 54 782 0 0 1 0 0 C14orf182 283551 broad.mit.edu 37 14 50458973 50458973 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:50458973C>A ENST00000399206.1 - 3 2093 c.e3+1 C14orf182_ENST00000529902.1_Splice_Site NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 large_intestine(2)|urinary_tract(1) 3 ATTCAACTTACCTCATTCATT 0.398000 25 84 1.04121e-07 1.27403e-07 1 1 0 LEMD2 221496 broad.mit.edu 37 6 33756865 33756865 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:33756865C>G ENST00000293760.5 - 1 48 c.29G>C c.(28-30)cGg>cCg p.R10P NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 10 LEM. integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 CAGCTCCCGCCGCAGTTCCAG 0.766000 6 31 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27099440 27099440 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:27099440A>G ENST00000324856.7 + 14 4048 c.3677A>G c.(3676-3678)tAt>tGt p.Y1226C ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1226C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y843C NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1226 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.M1220fs*9(1)|p.M1220fs*2(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CGCATGTCCTATGAGCCAAAT 0.488000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 23 58 0 0 1 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866584 106866584 + RNA SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:106866584C>A ENST00000390618.2 - 0 247 TGGAGCCTGGCGGATCCAGCT 0.582000 58 184 1.74971e-23 2.67204e-23 1 1 0 MRPS18C 51023 broad.mit.edu 37 4 84377294 84377294 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:84377294G>A ENST00000295491.4 + 1 177 c.64G>A c.(64-66)Gct>Act p.A22T MRPS18C_ENST00000507019.1_Missense_Mutation_p.A22T|MRPS18C_ENST00000507349.1_Missense_Mutation_p.A22T NM_016067.2 NP_057151.1 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C 22 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) CTTGGTAACGGCTGCTGTCAG 0.512000 24 128 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3125497 3125497 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:3125497G>T ENST00000263650.7 - 10 1329 c.1170C>A c.(1168-1170)ccC>ccA p.P390P OSBPL5_ENST00000525498.1_Silent_p.P301P|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.P322P|OSBPL5_ENST00000389989.3_Silent_p.P322P NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 390 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GTACGAACGTGGGTAGCACCA 0.627000 8 68 0.000157383 0.000178187 1 1 0 TNRC6C 57690 broad.mit.edu 37 17 76046101 76046101 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:76046101G>A ENST00000335749.4 + 3 1527 c.958G>A c.(958-960)Gtt>Att p.V320I TNRC6C_ENST00000544502.1_Missense_Mutation_p.V320I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V320I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V320I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V320I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V320I NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 320 Gly-rich.|Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAACAATGGCGTTGGTAATAT 0.557000 6 73 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12434185 12434185 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:12434185A>G ENST00000397026.2 + 6 870 c.487A>G c.(487-489)Aaa>Gaa p.K163E PPARG_ENST00000397012.2_Missense_Mutation_p.K157E|PPARG_ENST00000397000.1_Missense_Mutation_p.K157E|PPARG_ENST00000397010.2_Missense_Mutation_p.K157E|PPARG_ENST00000309576.6_Missense_Mutation_p.K157E|PPARG_ENST00000539812.1_Missense_Mutation_p.K155E|PPARG_ENST00000397015.2_Missense_Mutation_p.K157E|PPARG_ENST00000287820.6_Missense_Mutation_p.K185E P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 185 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) GATCCACAAAAAAAGTAGAAA 0.363000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 8 55 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875362 247875362 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:247875362A>T ENST00000302084.2 - 1 743 c.696T>A c.(694-696)agT>agA p.S232R RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGCTCCGGCCACTGGCAGAGG 0.522000 13 98 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784592 140784592 + Silent SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:140784592C>G ENST00000573521.1 + 1 2073 c.2073C>G c.(2071-2073)ctC>ctG p.L691L PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTTACCCTCTACCTCGTTG 0.592000 32 103 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65480099 65480099 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:65480099G>C ENST00000519389.1 + 19 3535 c.3356G>C c.(3355-3357)cGa>cCa p.R1119P HEPH_ENST00000343002.2_Missense_Mutation_p.R1065P|HEPH_ENST00000419594.1_Missense_Mutation_p.R876P|HEPH_ENST00000336279.5_Missense_Mutation_p.R798P|HEPH_ENST00000374727.3_Missense_Mutation_p.R1068P|HEPH_ENST00000441993.2_Missense_Mutation_p.R1068P Q9BQS7 HEPH_HUMAN hephaestin 1065 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTTTTTTCTCGAACAGGTAAG 0.473000 16 11 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28459392 28459392 + Missense_Mutation SNP G G A rs138059246 byFrequency TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:28459392G>A ENST00000261609.7 - 41 6493 c.6385C>T c.(6385-6387)Cgc>Tgc p.R2129C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2129 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCTGCGGGCGCACCCTGCGC 0.667000 3 35 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105404423 105404423 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:105404423C>T ENST00000333244.5 - 7 17484 c.17365G>A c.(17365-17367)Ggc>Agc p.G5789S AHNAK2_ENST00000557457.1_Missense_Mutation_p.G787S NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5789 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTCCCAGGCCTGACCCTTTG 0.498000 11 46 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962266 151962266 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:151962266G>C ENST00000355193.2 - 8 1259 c.1041C>G c.(1039-1041)tgC>tgG p.C347W KMT2C_ENST00000262189.6_Missense_Mutation_p.C347W lysine (K)-specific methyltransferase 2C CCGGGCTGTCGCACACTGCAC 0.378000 5 214 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777637 123777637 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:123777637T>A ENST00000321355.2 + 1 529 c.499T>A c.(499-501)Tct>Act p.S167T NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ACTCAGGTTGTCTTTCTGTGG 0.423000 16 184 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51483496 51483496 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:51483496C>A ENST00000391807.1 - 4 570 c.469_splice c.e4+1 p.V157_splice KLK7_ENST00000336317.4_Splice_Site_p.V44_splice|KLK7_ENST00000597707.1_Splice_Site_p.V85_splice|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Splice_Site_p.V157_splice NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 157 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) ggCCACCTACCATCTGGGCTC 0.662000 9 14 0.000442599 0.000489843 1 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90500907 90500907 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:90500907A>T ENST00000325643.5 + 4 1571 c.1505A>T c.(1504-1506)cAg>cTg p.Q502L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 cacatggcccagccccaacat 0.632000 20 46 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961245 34961245 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:34961245G>T ENST00000329357.5 + 1 333 c.297G>T c.(295-297)aaG>aaT p.K99N NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 99 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGCTGCTCAAGAAAGCGGCCC 0.527000 13 29 0.00244969 0.00260859 1 1 0 OR1Q1 158131 broad.mit.edu 37 9 125377261 125377261 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:125377261T>A ENST00000297913.2 + 1 314 c.245T>A c.(244-246)cTg>cAg p.L82Q RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 CCCAAGATGCTGCAGATTATT 0.473000 41 180 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276429 186276429 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:186276429C>T ENST00000445192.2 + 7 1623 c.1578C>T c.(1576-1578)acC>acT p.T526T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T483T|PRG4_ENST00000367485.4_Silent_p.T433T|PRG4_ENST00000367483.4_Silent_p.T485T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 526 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCACCAAGTCTG 0.637000 4 131 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616827 77616827 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:77616827C>A ENST00000521891.2 + 2 952 c.504C>A c.(502-504)gaC>gaA p.D168E ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D168E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D168E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D168E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 168 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGTTCCTGGACTCCCTGGCAT 0.473000 HNSCC(33;0.089) 7 28 0.00198382 0.00212398 1 1 0 TRIM46 80128 broad.mit.edu 37 1 155150586 155150586 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:155150586C>A ENST00000392451.2 + 6 1101 c.1018C>A c.(1018-1020)Cag>Aag p.Q340K TRIM46_ENST00000368382.1_Missense_Mutation_p.Q317K|TRIM46_ENST00000543729.1_Missense_Mutation_p.Q347K|TRIM46_ENST00000334634.4_Missense_Mutation_p.Q340K|TRIM46_ENST00000545012.1_Missense_Mutation_p.Q214K|TRIM46_ENST00000368383.3_Missense_Mutation_p.Q340K|TRIM46_ENST00000368385.4_Missense_Mutation_p.Q340K|TRIM46_ENST00000468878.1_3'UTR Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 340 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGAATGCCAGCAGGAGCGGCT 0.637000 21 50 3.51602e-12 4.81011e-12 1 1 0 EEF1A2 1917 broad.mit.edu 37 20 62122063 62122063 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:62122063C>A ENST00000217182.3 - 6 963 c.798G>T c.(796-798)cgG>cgT p.R266R EEF1A2_ENST00000298049.7_Silent_p.R266R NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 266 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CGGTCTCCACCCGGCCCACGG 0.662000 10 48 1.08611e-07 1.31266e-07 1 1 0 RHOJ 57381 broad.mit.edu 37 14 63735888 63735888 + Splice_Site SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:63735888T>C ENST00000316754.3 + 2 699 c.e2+2 RHOJ_ENST00000555125.1_Splice_Site|RHOJ_ENST00000557133.1_3'UTR NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) GCGGGACAGGTACATTTTTAT 0.453000 5 74 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88897527 88897527 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:88897527A>T ENST00000556553.1 + 9 1503 c.944A>T c.(943-945)cAg>cTg p.Q315L SPATA7_ENST00000356583.5_Missense_Mutation_p.Q315L|SPATA7_ENST00000045347.7_Missense_Mutation_p.Q347L|SPATA7_ENST00000393545.4_Missense_Mutation_p.Q347L Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 347 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GCAATGTGTCAGTATTCCCTG 0.358000 76 137 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86905118 86905118 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:86905118C>G ENST00000376238.4 - 11 1149 c.1100G>C c.(1099-1101)gGg>gCg p.G367A SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298A NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 367 G -> R (reduced transport of inosine and thymidine). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GGTAGAGAACCCGGCGGTCAT 0.458000 12 63 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104356990 104356990 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:104356990G>T ENST00000369902.3 + 7 1016 c.850G>T c.(850-852)Gat>Tat p.D284Y SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.D284Y|SUFU_ENST00000369899.2_Missense_Mutation_p.D284Y NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 284 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GCCCCCCGAGGATGACGAGGA 0.607000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation OREG0020482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 127 5.50884e-06 6.38377e-06 1 1 0 NOD2 64127 broad.mit.edu 37 16 50756544 50756544 + Missense_Mutation SNP A A T rs75934273 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:50756544A>T ENST00000300589.2 + 8 2831 c.2726A>T c.(2725-2727)aAc>aTc p.N909I NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 909 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TTCTGGGGCAACAGAGTGGGT 0.527000 99 335 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610139 10610139 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:10610139C>T ENST00000171111.5 - 2 1118 c.571G>A c.(571-573)Gct>Act p.A191T KEAP1_ENST00000393623.2_Missense_Mutation_p.A191T|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 191 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATCTGCTCAGCGAAGTTGGCG 0.607000 6 40 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58711300 58711300 + Missense_Mutation SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:58711300T>C ENST00000305921.3 + 3 1020 c.788T>C c.(787-789)aTt>aCt p.I263T NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 263 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGCACAGTTATTGACCAGATT 0.378000 8 85 0 0 1 0 0 GTPBP3 84705 broad.mit.edu 37 19 17451852 17451852 + Splice_Site SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:17451852G>T ENST00000324894.8 + 8 1042 c.e8-1 GTPBP3_ENST00000361619.5_Splice_Site|GTPBP3_ENST00000600625.1_Intron|GTPBP3_ENST00000598038.1_Intron|GTPBP3_ENST00000358792.7_Splice_Site NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) tRNA modification mitochondrion GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 TGCTCCCGCAGGCTAGAGCAG 0.612000 13 47 9.05144e-12 1.22975e-11 1 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140712464 140712464 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:140712464C>T ENST00000517417.1 + 1 2213 c.2213C>T c.(2212-2214)tCg>tTg p.S738L PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S738L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCCGGTTCGCACTTTGTG 0.642000 24 80 0 0 1 0 0 RDH13 112724 broad.mit.edu 37 19 55556498 55556498 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:55556498C>A ENST00000396247.3 - 8 1199 c.727G>T c.(727-729)Gcc>Tcc p.A243S CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|RDH13_ENST00000415061.3_Missense_Mutation_p.A314S NM_138412.3 NP_612421.1 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 (all-trans/9-cis) 314 binding|oxidoreductase activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) ACCAGGCGGGCACTTTCAGCC 0.622000 10 23 1.33987e-11 1.80791e-11 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92765094 92765094 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:92765094G>A ENST00000318238.4 - 5 1407 c.191C>T c.(190-192)cCa>cTa p.P64L SAMD9L_ENST00000411955.1_Missense_Mutation_p.P64L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P64L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 64 SAM. central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAAAAGTGCTGGACCCCATGG 0.413000 14 92 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94526457 94526457 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:94526457C>A ENST00000330836.5 - 5 2031 c.1900G>T c.(1900-1902)Gcc>Tcc p.A634S DDX24_ENST00000555054.1_Missense_Mutation_p.A591S|DDX24_ENST00000544005.1_Missense_Mutation_p.A384S NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 634 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCCAGACGGGCAAACTGCTCC 0.517000 27 50 4.87955e-14 7.01659e-14 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886072 88886072 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:88886072C>A ENST00000319675.3 - 1 224 c.128G>T c.(127-129)tGc>tTc p.C43F NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 43 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AGCTATACGGCAATAGTTGGC 0.507000 14 78 6.81908e-15 9.9508e-15 1 1 0 MITF 4286 broad.mit.edu 37 3 69987131 69987131 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:69987131G>T ENST00000352241.4 + 3 676 c.513G>T c.(511-513)ccG>ccT p.P171P MITF_ENST00000472437.1_Silent_p.P119P|MITF_ENST00000394351.3_Silent_p.P64P|MITF_ENST00000314589.5_Silent_p.P155P|MITF_ENST00000328528.6_Silent_p.P170P|MITF_ENST00000314557.6_Silent_p.P64P|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Silent_p.P171P|MITF_ENST00000394355.2_Silent_p.P146P NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 171 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCATGCCACCGGTGCCGGGGA 0.502000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 11 57 8.60227e-14 1.22801e-13 1 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307265 39307265 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:39307265G>A ENST00000541347.1 - 2 975 c.736C>T c.(736-738)Ccc>Tcc p.P246S CX3CR1_ENST00000399220.2_Missense_Mutation_p.P246S|CX3CR1_ENST00000358309.3_Missense_Mutation_p.P278S|CX3CR1_ENST00000542107.1_Missense_Mutation_p.P246S NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 246 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) ACGTTGTAGGGTGTCCAGAAG 0.468000 13 40 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991245 28991245 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:28991245C>G ENST00000359747.4 + 14 2275 c.2246C>G c.(2245-2247)tCg>tGg p.S749W DSG4_ENST00000308128.4_Missense_Mutation_p.S730W|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 730 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGAGGTGTATCGGGAGTGGAG 0.607000 29 93 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457333 45457333 + RNA SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:45457333T>A ENST00000548424.1 + 0 448 CTCCCAAATCTGGGAGTGTTC 0.488000 5 58 0 0 1 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89916917 89916917 + Silent SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:89916917A>G ENST00000548729.1 - 3 1703 c.1401T>C c.(1399-1401)gcT>gcC p.A467A POC1B-GALNT4_ENST00000413530.1_Silent_p.A298A|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Silent_p.A470A|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GTGAAAGGTTAGCACCTGTGG 0.418000 18 53 0 0 1 0 0 NAT8 9027 broad.mit.edu 37 2 73868535 73868535 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:73868535A>T ENST00000272425.3 - 2 370 c.221T>A c.(220-222)cTg>cAg p.L74Q NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 74 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 AAGGAACCACAGGGCAGGGAA 0.552000 30 84 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7637286 7637286 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:7637286A>G ENST00000340209.4 + 4 764 c.467A>G c.(466-468)aAt>aGt p.N156S RBFOX1_ENST00000553186.1_Missense_Mutation_p.N151S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.N171S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.N194S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.N151S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.N151S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.N171S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.N139S|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.N194S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.N171S Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 151 RRM. Interaction with RNA. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATTATTTTTAATGAGCGAGGC 0.289000 7 67 0 0 1 0 0 FHL2 2274 broad.mit.edu 37 2 106015389 106015389 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:106015389G>T ENST00000344213.4 - 1 292 c.165C>A c.(163-165)gcC>gcA p.A55A FHL2_ENST00000408995.1_Intron|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000409177.1_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000336660.5_Intron Q14192 FHL2_HUMAN four and a half LIM domains 2 0 LIM zinc-binding 1. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 TAAGCCCCTCGGCCTCCCTCC 0.736000 4 7 0.00909568 0.00938141 1 1 0 AWAT1 158833 broad.mit.edu 37 X 69455988 69455988 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:69455988C>A ENST00000374521.3 + 3 295 c.255_splice c.e3+1 p.T85_splice AWAT1_ENST00000480702.1_3'UTR NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 85 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity p.T165M(1) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 TTCCCCATTACGGTAAGTATC 0.483000 17 26 1.96292e-10 2.5609e-10 1 1 0 CDAN1 146059 broad.mit.edu 37 15 43021262 43021262 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:43021262G>A ENST00000356231.3 - 19 2627 c.2604C>T c.(2602-2604)ttC>ttT p.F868F NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 868 F -> I (in CDA1). integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TTTCTGCCACGAACTCTACGG 0.547000 15 117 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73544152 73544152 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:73544152G>A ENST00000224721.6 + 41 5497 c.5492G>A c.(5491-5493)cGg>cAg p.R1831Q NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1826 Cadherin 17. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCCCGTGACCGGGGGATGCCC 0.617000 10 60 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3688 3688 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrM:3688G>A ENST00000361390.2 + 1 382 c.382G>A c.(382-384)Gcc>Acc p.128_128insT mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 ACTCAAACTACGCCCTGATCG 0.473000 5 4 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077881 95077881 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:95077881T>C ENST00000545558.1 - 7 1518 c.1026A>G c.(1024-1026)aaA>aaG p.K342K NOL8_ENST00000542053.1_Silent_p.K274K|NOL8_ENST00000358855.4_Silent_p.K274K|NOL8_ENST00000535387.1_Silent_p.K342K|NOL8_ENST00000442668.2_Silent_p.K342K Q76FK4 NOL8_HUMAN nucleolar protein 8 342 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 GAACGCCTGATTTGAAATCAT 0.353000 4 18 0 0 1 0 0 BLZF1 8548 broad.mit.edu 37 1 169349788 169349788 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:169349788T>C ENST00000367808.3 + 5 1161 c.738T>C c.(736-738)gcT>gcC p.A246A BLZF1_ENST00000329281.2_Silent_p.A246A Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 246 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) CACACGGGGCTATACAAGATC 0.403000 4 81 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82430833 82430833 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:82430833C>A ENST00000333891.8 - 22 15345 c.e22+1 NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTTTACTTACCTTCAGTGTC 0.338000 15 37 3.27435e-08 4.08258e-08 1 1 0 SLK 9748 broad.mit.edu 37 10 105770586 105770586 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:105770586G>A ENST00000369755.3 + 13 3342 c.2797G>A c.(2797-2799)Gtg>Atg p.V933M SLK_ENST00000474260.1_Intron|SLK_ENST00000335753.4_Intron NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 933 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TATAAATGAAGTGGAGAAAGC 0.438000 5 35 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656968 46656968 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:46656968G>A ENST00000544460.1 + 1 1357 c.1103G>A c.(1102-1104)cGa>cAa p.R368Q TDRD6_ENST00000316081.6_Missense_Mutation_p.R368Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 368 Tudor 2. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GAATATTTTCGAATGCCGGTG 0.547000 19 84 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110762846 110762846 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:110762846C>A ENST00000451085.1 + 4 1064 c.18C>A c.(16-18)ctC>ctA p.L6L LRRN3_ENST00000308478.5_Silent_p.L6L|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L6L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 6 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACATGCCACTCCGAATTCATG 0.418000 17 78 5.3912e-06 6.32183e-06 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 30 0.000442599 0.000489843 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 105 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42684893 42684893 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:42684893C>G ENST00000397163.3 + 7 1221 c.1002C>G c.(1000-1002)caC>caG p.H334Q CAPN3_ENST00000357568.3_Missense_Mutation_p.H334Q|CAPN3_ENST00000356316.3_Missense_Mutation_p.H247Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H286Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.H334Q NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 334 Calpain catalytic. H -> Q (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TCAGAGGTCACGCCTACTCTG 0.567000 12 36 0 0 1 0 0 NCALD 83988 broad.mit.edu 37 8 102731524 102731524 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:102731524C>T ENST00000395923.1 - 4 793 c.334G>A c.(334-336)Gga>Aga p.G112R NCALD_ENST00000522951.1_Missense_Mutation_p.G112R|NCALD_ENST00000220931.6_Missense_Mutation_p.G112R|NCALD_ENST00000521599.1_Missense_Mutation_p.G112R|NCALD_ENST00000519508.2_Missense_Mutation_p.G112R|NCALD_ENST00000311028.3_Missense_Mutation_p.G112R NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 112 EF-hand 3. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) TAGCCATTTCCGTCCAGGTCG 0.463000 15 133 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895908 77895908 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:77895908G>T ENST00000262198.4 + 4 3067 c.2612G>T c.(2611-2613)gGc>gTc p.G871V NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 871 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GGGAGCACCGGCAAGCGAGTG 0.577000 11 56 1.08611e-07 1.31266e-07 1 1 0 SEL1L2 80343 broad.mit.edu 37 20 13847462 13847462 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:13847462G>T ENST00000284951.5 - 15 1364 c.1290C>A c.(1288-1290)gcC>gcA p.A430A SEL1L2_ENST00000378072.5_Silent_p.A430A|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 430 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AATATTTGAAGGCAAGTTTAT 0.368000 13 86 5.50884e-06 6.38377e-06 1 1 0 SLIT1 6585 broad.mit.edu 37 10 98807524 98807524 + Nonsense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:98807524A>T ENST00000266058.4 - 16 1802 c.1557T>A c.(1555-1557)tgT>tgA p.C519* SLIT1_ENST00000371070.4_Nonsense_Mutation_p.C519*|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 519 LRRNT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGTTGGCCTCACAGCGGCACT 0.642000 20 55 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486463 133486463 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:133486463C>T ENST00000409261.1 - 18 5879 c.5506G>A c.(5506-5508)Gga>Aga p.G1836R NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517R NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1836 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCAGCATATCCGAATGATGAG 0.537000 19 250 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926306 156926306 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:156926306C>T ENST00000368194.3 - 19 2616 c.1577G>A c.(1576-1578)cGt>cAt p.R526H ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R486H NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 486 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTCGAAGACGGATCCCAGC 0.532000 13 172 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306688 1306688 + Splice_Site SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:1306688C>T ENST00000211076.3 + 2 402 c.254_splice c.e2+1 p.P85_splice TPSD1_ENST00000397534.2_Splice_Site_p.P78_splice NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 85 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) TGCGTGGAACCGTGAGTCTCC 0.697000 6 52 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278958 152278958 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:152278958G>A ENST00000368799.1 - 3 8439 c.8404C>T c.(8404-8406)Cac>Tac p.H2802Y FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2802 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATGCTCGTGGTGGTACCCC 0.607000 Ichthyosis 105 1100 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467836 66467836 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:66467836C>T ENST00000273854.3 - 3 1033 c.433G>A c.(433-435)Ggg>Agg p.G145R EPHA5_ENST00000354839.4_Missense_Mutation_p.G145R|EPHA5_ENST00000511294.1_Missense_Mutation_p.G145R|EPHA5_ENST00000432638.2_Missense_Mutation_p.G145R NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 145 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTACAGGTCCCCAGTCCTCCA 0.423000 TSP Lung(17;0.13) 15 52 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138857009 138857009 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:138857009C>A ENST00000330794.4 - 7 1184 c.851G>T c.(850-852)aGg>aTg p.R284M NM_198282.2 NP_938023.1 Q86WV6 TM173_HUMAN transmembrane protein 173 284 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGCTCAAGCCTATCCTCCCG 0.572000 26 90 4.4004e-07 5.22216e-07 1 1 0 SERPINA6 866 broad.mit.edu 37 14 94780810 94780810 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:94780810G>T ENST00000341584.3 - 2 322 c.176C>A c.(175-177)cCc>cAc p.P59H NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 59 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GTTCTTTTTGGGACTCAAGGC 0.547000 5 51 0.014758 0.0149862 1 1 0 SLC6A19 340024 broad.mit.edu 37 5 1213651 1213651 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:1213651G>T ENST00000304460.10 + 5 793 c.737G>T c.(736-738)gGc>gTc p.G246V NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 246 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACGCTGAAGGGCGCCACCAAT 0.667000 6 63 0.0293803 0.0295302 1 1 0 GUF1 60558 broad.mit.edu 37 4 44687997 44687997 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:44687997A>G ENST00000281543.5 + 7 885 c.691A>G c.(691-693)Aat>Gat p.N231D GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 231 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 ACTTGGAACAAATGTTGAGAG 0.313000 6 68 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23886429 23886429 + Silent SNP G G A rs61737803 byFrequency TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:23886429G>A ENST00000355349.3 - 32 4614 c.4452C>T c.(4450-4452)ctC>ctT p.L1484L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1484 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGCGTTCTTGAGTTTGAAGA 0.592000 18 158 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149498364 149498364 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:149498364G>T ENST00000261799.4 - 21 3319 c.2850C>A c.(2848-2850)ccC>ccA p.P950P NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 950 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCTGGGAGAAGGGGGGCCGAA 0.577000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 20 139 5.35356e-11 7.12602e-11 1 1 0 ALPI 248 broad.mit.edu 37 2 233323439 233323439 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:233323439C>T ENST00000295463.3 + 10 1358 c.1281C>T c.(1279-1281)gaC>gaT p.D427D NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 427 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCGACCAGACGTGAATGAGA 0.662000 9 53 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56196383 56196383 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:56196383T>A ENST00000361673.3 - 6 5654 c.5441A>T c.(5440-5442)cAt>cTt p.H1814L NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1814 Ig-like 2. H -> R (in Ref. 1; BX647796). ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AGAATCTTCATGAATTTCTGC 0.393000 18 98 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049593 11049593 + RNA SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr21:11049593G>C ENST00000470054.1 - 0 515 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCGGGCTGTCGCACACTGCAC 0.383000 4 177 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1206787 1206787 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:1206787G>A ENST00000382952.3 - 9 1404 c.1020C>T c.(1018-1020)gtC>gtT p.V340V CTBP1_ENST00000290921.6_Silent_p.V351V NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 351 Interaction with GLIS2 2 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGTCCTTGTTGACACAGTTCT 0.652000 8 96 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944458 40944458 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:40944458C>A ENST00000373198.3 - 12 2279 c.2044G>T c.(2044-2046)Ggt>Tgt p.G682C PTPRT_ENST00000373184.1_Missense_Mutation_p.G682C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G682C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G682C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G682C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G682C|PTPRT_ENST00000373187.1_Missense_Mutation_p.G682C NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 682 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTATTGTCACCCACTGTAAAT 0.517000 15 106 2.48551e-13 3.52262e-13 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103061723 103061723 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:103061723G>C ENST00000264260.2 + 9 1584 c.995G>C c.(994-996)cGc>cCc p.R332P IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190P NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 332 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CGTGATCTTCGCAGGAAGTTT 0.423000 11 42 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656374 656374 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:656374G>C ENST00000380907.2 - 1 589 c.571C>G c.(571-573)Ctg>Gtg p.L191V EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 191 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCTATACTCAGGGTCATCCTG 0.562000 40 164 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139229864 139229864 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:139229864T>C ENST00000450536.2 - 18 2731 c.2157A>G c.(2155-2157)gaA>gaG p.E719E REPS1_ENST00000409812.2_Silent_p.E628E|REPS1_ENST00000258062.5_Silent_p.E718E|REPS1_ENST00000415951.2_Silent_p.E660E|REPS1_ENST00000367663.4_Silent_p.E692E Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 719 Interaction with RALBP1 (By similarity). coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TTTGTGTATGTTCATCAACTT 0.398000 13 88 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186081 101186081 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:101186081G>A ENST00000294728.2 + 2 215 c.114G>A c.(112-114)caG>caA p.Q38Q VCAM1_ENST00000347652.2_Silent_p.Q38Q|VCAM1_ENST00000370115.1_Silent_p.Q38Q|VCAM1_ENST00000370119.4_Silent_p.Q38Q NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 38 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATCTTGCTCAGATTGGTGACT 0.433000 9 74 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189912942 189912942 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:189912942C>A ENST00000374866.3 - 45 3468 c.3194G>T c.(3193-3195)gGa>gTa p.G1065V NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1065 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TACACGTTCTCCAACAGCACC 0.343000 8 41 0.00448238 0.00472208 1 1 0 HAMP 57817 broad.mit.edu 37 19 35775872 35775872 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:35775872C>A ENST00000598398.1 + 4 478 c.182C>A c.(181-183)aCc>aAc p.T61N HAMP_ENST00000222304.3_Missense_Mutation_p.T61N NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 61 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) AGGCGAGACACCCACTTCCCC 0.597000 18 185 2.39556e-15 3.52184e-15 1 1 0 TTLL7 79739 broad.mit.edu 37 1 84412840 84412840 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:84412840A>G ENST00000260505.8 - 6 850 c.473T>C c.(472-474)aTa>aCa p.I158T TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 158 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGGTTTCACTATAAAAGTTTT 0.328000 11 35 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1453292 1453292 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:1453292C>G ENST00000389221.4 - 3 340 c.341G>C c.(340-342)cGt>cCt p.R114P UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Missense_Mutation_p.R114P|UNKL_ENST00000397462.1_Missense_Mutation_p.R201P|UNKL_ENST00000508903.2_Missense_Mutation_p.R114P NM_001193388.1 NP_001180317.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 114 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) TTTGTAGTAACGCAGGTGGTA 0.612000 7 26 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49052739 49052739 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:49052739G>A ENST00000226432.4 + 15 2077 c.1894G>A c.(1894-1896)Gaa>Aaa p.E632K CWH43_ENST00000513409.1_Missense_Mutation_p.E605K NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 632 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CTCCCATGCTGAACTGAGTGA 0.383000 7 78 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64457753 64457753 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:64457753G>C ENST00000358025.3 + 21 2796 c.2566G>C c.(2566-2568)Gaa>Caa p.E856Q SYNE2_ENST00000554584.1_Missense_Mutation_p.E856Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E856Q NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 856 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATCCCAGAAGGAACTTGAATC 0.433000 26 50 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10541609 10541609 + Silent SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:10541609C>G ENST00000583535.1 - 27 3567 c.3480G>C c.(3478-3480)acG>acC p.T1160T MYH3_ENST00000226209.7_Silent_p.T1160T NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1160 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GCTCTATCTGCGTGGAGGTGA 0.667000 18 45 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45741641 45741641 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr21:45741641G>T ENST00000403390.1 + 14 1362 c.1362G>T c.(1360-1362)gtG>gtT p.V454V PFKL_ENST00000349048.4_Silent_p.V407V P17858 K6PL_HUMAN phosphofructokinase, liver 407 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) TCCTGAATGTGGGGGCCCCGG 0.642000 4 46 0.00024832 0.000277949 1 1 0 WIPF3 644150 broad.mit.edu 37 7 29918676 29918676 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:29918676C>T ENST00000409290.1 + 3 275 c.275C>T c.(274-276)gCg>gTg p.A92V WIPF3_ENST00000409123.1_Missense_Mutation_p.A92V|WIPF3_ENST00000242140.5_Missense_Mutation_p.A92V NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 92 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 ACACGAGGCGCGAGCACACCT 0.517000 3 10 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45741647 45741647 + Silent SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr21:45741647C>G ENST00000403390.1 + 14 1368 c.1368C>G c.(1366-1368)gcC>gcG p.A456A PFKL_ENST00000349048.4_Silent_p.A409A P17858 K6PL_HUMAN phosphofructokinase, liver 409 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) ATGTGGGGGCCCCGGCGGCTG 0.642000 5 47 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122437576 122437576 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:122437576C>A ENST00000474629.2 + 14 4844 c.4578C>A c.(4576-4578)tcC>tcA p.S1526S PARP14_ENST00000475640.1_3'UTR NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1526 WWE. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AACAGGAATCCCGGGCAGATT 0.383000 45 116 2.13384e-23 3.23359e-23 1 1 0 CCNT1 904 broad.mit.edu 37 12 49087591 49087591 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:49087591C>T ENST00000261900.3 - 9 1628 c.1406G>A c.(1405-1407)gGa>gAa p.G469E NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 469 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGCTTTATCTCCACCTGCCAC 0.443000 23 72 0 0 1 0 0 ART5 116969 broad.mit.edu 37 11 3660985 3660985 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:3660985G>A ENST00000397068.3 - 2 1066 c.674C>T c.(673-675)cCc>cTc p.P225L ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Missense_Mutation_p.P225L NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 225 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCATGGGGGGGAATCAGCAC 0.502000 5 99 0 0 1 0 0 MIR9-2 407047 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 5 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 3 5 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 3 6 --- --- --- --- TATDN1 83940 broad.mit.edu 37 8 125500846 125500847 + Frame_Shift_Ins INS - - A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:125500846_125500847insA ENST00000276692.6 - 12 919_920 c.882_883insT c.(880-885)ttctggfs p.W295fs TATDN1_ENST00000519548.1_Frame_Shift_Ins_p.W248fs|RP11-158K1.3_ENST00000518639.1_RNA NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 295 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TATATTCCAGGAAAAAATACTT 0.292 7 73 --- --- --- --- DPF2 5977 broad.mit.edu 37 11 65119159 65119173 + In_Frame_Del DEL TGGAGCTGCCACCTG TGGAGCTGCCACCTG - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:65119159_65119173delTGGAGCTGCCACCTG ENST00000528416.1 + 11 1238_1252 c.1105_1119delTGGAGCTGCCACCTG c.(1105-1119)del p.WSCHL369del DPF2_ENST00000415073.2_In_Frame_Del_p.WSCHL185del|DPF2_ENST00000252268.4_In_Frame_Del_p.WSCHL383del NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 369 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding p.C371S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 TGCAGGAAGTTGGAGCTGCCACCTGTGTCTGGACC 0.521 8 123 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 2 4 --- --- --- --- RASAL3 64926 broad.mit.edu 37 19 15572382 15572382 + Frame_Shift_Del DEL G G - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:15572382delG ENST00000343625.6 - 3 445 c.365delC c.(364-366)cafs p.P122fs NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 122 Pro-rich. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 AGGGATCTGTGGGGTAGGGGG 0.617 2 4 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 4 6 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 7 104 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47041360 47041364 + Frame_Shift_Del DEL CGTCT CGTCT - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:47041360_47041364delCGTCT ENST00000377604.3 + 16 2446_2450 c.1704_1708delCGTCT c.(1702-1710)gactfs p.DVS568fs RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Del_p.DVS491fs|RBM10_ENST00000329236.7_Frame_Shift_Del_p.DVS490fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 568 Tyr-rich. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CTGTTCCCGACGTCTCTACCTACCA 0.580 15 21 --- --- --- ---