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 TACC2 10579 broad.mit.edu 37 10 123892231 123892231 + Missense_Mutation SNP C C T rs141016456 TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr10:123892231C>T ENST00000369005.1 + 6 6021 c.5681C>T c.(5680-5682)aCg>aTg p.T1894M TACC2_ENST00000358010.1_Missense_Mutation_p.T85M|TACC2_ENST00000493951.1_Intron|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.T1894M|TACC2_ENST00000513429.1_Missense_Mutation_p.T85M|TACC2_ENST00000515603.1_Missense_Mutation_p.T1894M|TACC2_ENST00000515273.1_Missense_Mutation_p.T1943M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.T1943M NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1894 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGGTCTCTACGGATCTGATA 0.622000 12 46 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161580183 161580183 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:161580183G>A ENST00000356592.3 + 10 1697 c.1237G>A c.(1237-1239)Ggc>Agc p.G413S GABRG2_ENST00000361925.4_Missense_Mutation_p.G405S|GABRG2_ENST00000414552.2_Missense_Mutation_p.G453S|GABRG2_ENST00000393933.4_Missense_Mutation_p.G310S NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 405 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TGAAGAGTACGGCTATGAGTG 0.483000 21 88 0 0 1 0 0 FAM219B 57184 broad.mit.edu 37 15 75197010 75197010 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr15:75197010C>T ENST00000357635.5 - 4 744 c.424G>A c.(424-426)Gca>Aca p.A142T FAM219B_ENST00000563119.1_Missense_Mutation_p.A142T|FAM219B_ENST00000565772.1_Missense_Mutation_p.A56T|FAM219B_ENST00000563706.1_5'UTR NM_020447.3 NP_065180.1 Q5XKK7 CO017_HUMAN family with sequence similarity 219, member B 142 cytochrome-c oxidase activity CTTGCCTCTGCAGATGAATAC 0.552000 24 124 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94809508 94809508 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr9:94809508G>A ENST00000262554.2 - 11 1032 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 343 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GCTAACAGGGGAGGTAACGAA 0.428000 7 52 0 0 1 0 0 FOXL1 2300 broad.mit.edu 37 16 86612494 86612494 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr16:86612494C>T ENST00000320241.3 + 1 380 c.165C>T c.(163-165)atC>atT p.I55I NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 55 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 ACAGCTACATCGCGCTCATCG 0.672000 20 59 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50467748 50467748 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr7:50467748G>A ENST00000331340.3 + 8 1138 c.983G>A c.(982-984)cGc>cAc p.R328H IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.R185H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R241H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R98H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R241H|IKZF1_ENST00000439701.1_Missense_Mutation_p.R286H|IKZF1_ENST00000359197.5_Missense_Mutation_p.R286H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R241H NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 328 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GAGTCCCTGCGCCCGCTGGTG 0.657000 """D,T""" BCL6 """ALL, DLBCL""" 4 10 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122545849 122545849 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr3:122545849C>T ENST00000261038.5 + 3 1038 c.640C>T c.(640-642)Ctt>Ttt p.L214F NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 214 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) GACATCACCTCTTCTTGCTGC 0.433000 21 75 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53385631 53385631 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr6:53385631C>T ENST00000229416.6 - 3 874 c.391G>A c.(391-393)Gct>Act p.A131T GCLC_ENST00000514004.1_Missense_Mutation_p.A131T NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 131 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) ATAGAAGTAGCCTCCTTCCGG 0.453000 37 183 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209500 140209500 + Silent SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:140209500G>A ENST00000529310.1 + 1 1938 c.1824G>A c.(1822-1824)tcG>tcA p.S608S PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.S608S(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGCTTTCGTATGAGCTGC 0.657000 13 71 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33905502 33905502 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr15:33905502C>T ENST00000389232.4 + 19 2353 c.2283C>T c.(2281-2283)ccC>ccT p.P761P RYR3_ENST00000415757.3_Silent_p.P761P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 761 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATGGGCAGCCCGTGCAGGGGA 0.537000 5 24 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 179036470 179036470 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:179036470G>A ENST00000319449.4 + 18 2089 c.2077G>A c.(2077-2079)Gac>Aac p.D693N RUFY1_ENST00000393438.2_Missense_Mutation_p.D585N|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.D585N NM_025158.4 NP_079434.3 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 693 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGAGTGTGCGACAGCTGCCA 0.652000 HNSCC(44;0.11) 5 19 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247712493 247712493 + Missense_Mutation SNP G G T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr1:247712493G>T ENST00000366490.3 + 4 520 c.362G>T c.(361-363)aGa>aTa p.R121I GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_5'UTR germinal center-associated, signaling and motility-like ACTGTGAAAAGATGGGAAATT 0.488000 6 31 8.12818e-05 8.62992e-05 1 1 0 MGAT3 4248 broad.mit.edu 37 22 39883837 39883837 + Missense_Mutation SNP G G T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr22:39883837G>T ENST00000341184.6 + 2 700 c.485G>T c.(484-486)cGa>cTa p.R162L NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 162 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) ACGGGGGGCCGAGGCGCCCGG 0.766000 3 7 1 1 1 1 0 DUSP1 1843 broad.mit.edu 37 5 172195950 172195950 + Missense_Mutation SNP G G T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:172195950G>T ENST00000239223.3 - 4 1161 c.919C>A c.(919-921)Cag>Aag p.Q307K RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 307 Tyrosine-protein phosphatase. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) GACTCAAACTGCAGCAGCTGG 0.587000 14 44 4.3838e-07 4.83342e-07 1 1 0 ASB4 51666 broad.mit.edu 37 7 95125141 95125141 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr7:95125141C>T ENST00000325885.5 + 2 330 c.259C>T c.(259-261)Cat>Tat p.H87Y ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.H87Y NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 87 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CTTGTTTGGCCATGTGGAATG 0.443000 12 61 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6620306 6620306 + Silent SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr9:6620306G>A ENST00000321612.6 - 3 498 c.348C>T c.(346-348)atC>atT p.I116I NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 116 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GAGTTGCAAGGATTTCATTTT 0.388000 17 54 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 7 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55900087 55900087 + Silent SNP G G C TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr2:55900087G>C ENST00000447944.2 - 9 893 c.807C>G c.(805-807)acC>acG p.T269T NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 269 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGTCCTCTTGGTAACACCAG 0.373000 20 83 0 0 1 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr22:22127164C>T ENST00000215832.6 - 7 1152 c.964G>A c.(964-966)Gag>Aag p.E322K MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity p.E322K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478000 57 44 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135352412 135352412 + Missense_Mutation SNP A A G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr10:135352412A>G ENST00000463117.2 + 11 1698 c.1426A>G c.(1426-1428)Att>Gtt p.I476V SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I476V P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 476 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CCCTATACATATTGGGTTTGG 0.473000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 15 46 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10149469 10149469 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr12:10149469C>T ENST00000428126.2 - 5 584 c.315G>A c.(313-315)ctG>ctA p.L105L CLEC1B_ENST00000298527.6_Silent_p.L138L|CLEC1B_ENST00000348658.4_Silent_p.L105L Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 138 cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 TGTCAATCTTCAGGAGAGTAG 0.398000 15 72 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221935 55221935 + RNA SNP G G A rs45588833 by1000genomes TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr19:55221935G>A ENST00000413439.1 + 0 1462 CGGGCCCCACGGTGGCCTCAG 0.637000 4 46 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014574 127014574 + Silent SNP T T C rs146028755 byFrequency TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr7:127014574T>C ENST00000393313.1 - 5 1407 c.816A>G c.(814-816)caA>caG p.Q272Q ZNF800_ENST00000393312.1_Silent_p.Q272Q|ZNF800_ENST00000265827.3_Silent_p.Q272Q Q2TB10 ZN800_HUMAN zinc finger protein 800 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 CTTTAGAGGATTGGTTTGGAT 0.373000 28 82 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 4 31 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr17:7577547C>T ENST00000420246.2 - 7 866 c.734G>A c.(733-735)gGc>gAc p.G245D TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGTTCATGCCGCCCATGCA 0.582000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 33 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99182508 99182508 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr2:99182508C>T ENST00000074304.5 + 22 2704 c.2311C>T c.(2311-2313)Cgg>Tgg p.R771W INPP4A_ENST00000523221.1_Missense_Mutation_p.R771W|INPP4A_ENST00000409540.3_Missense_Mutation_p.R732W|INPP4A_ENST00000409463.1_Missense_Mutation_p.R100W|INPP4A_ENST00000409016.3_Missense_Mutation_p.R732W|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000545415.1_Missense_Mutation_p.R732W|INPP4A_ENST00000409851.3_Missense_Mutation_p.R766W NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 771 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GTTTAACGTGCGGGTCCCTCT 0.657000 3 12 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120572126 120572126 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr12:120572126G>A ENST00000300648.6 - 53 7298 c.7286C>T c.(7285-7287)tCa>tTa p.S2429L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2429 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCAGGAGTGAGACGATGTT 0.572000 16 47 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915914 126915914 + Missense_Mutation SNP C C A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr3:126915914C>A ENST00000398112.1 + 2 626 c.386C>A c.(385-387)cCt>cAt p.P129H NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) AACCTATTTCCTTTCCCCATG 0.612000 49 203 5.13769e-22 5.89121e-22 1 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102508997 102508997 + Missense_Mutation SNP G G T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr14:102508997G>T ENST00000360184.4 + 69 12589 c.12425G>T c.(12424-12426)gGc>gTc p.G4142V RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4142 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CTCCGTGCGGGCCGCATCTTT 0.587000 8 34 0.000157383 0.000165061 1 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250305 140250305 + Silent SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:140250305G>A ENST00000398640.2 + 1 1617 c.1617G>A c.(1615-1617)gcG>gcA p.A539A PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGATGCGGGCGTGCCGC 0.682000 20 119 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150165 34150165 + Missense_Mutation SNP T T G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chrX:34150165T>G ENST00000346193.3 - 1 282 c.231A>C c.(229-231)ttA>ttC p.L77F NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 77 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTTTGGGGAGTAAAAACTCGT 0.537000 31 102 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183646 197183646 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr2:197183646C>T ENST00000260983.2 - 9 2150 c.1968G>A c.(1966-1968)gtG>gtA p.V656V HECW2_ENST00000409111.1_Silent_p.V300V NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 656 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 ACCGTGTGTCCACAGAGGACA 0.592000 5 35 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 20 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680494 128680494 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr11:128680494C>T ENST00000344954.6 + 9 1259 c.871C>T c.(871-873)Cgg>Tgg p.R291W FLI1_ENST00000534087.1_Missense_Mutation_p.R291W|FLI1_ENST00000281428.8_Missense_Mutation_p.R258W|FLI1_ENST00000429175.2_Missense_Mutation_p.R324W|FLI1_ENST00000525560.1_Missense_Mutation_p.R131W Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 324 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CTGGGGCGAGCGGAAAAGCAA 0.552000 T EWSR1 Ewing sarcoma 9 14 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57025928 57025928 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr8:57025928G>A ENST00000311923.1 - 1 613 c.614C>T c.(613-615)gCg>gTg p.A205V NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 205 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) CAAGATGTTCGCGGGCTTCAG 0.483000 17 32 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8615225 8615225 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr19:8615225G>A ENST00000338257.8 - 10 1187 c.920C>T c.(919-921)gCc>gTc p.A307V NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 307 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CAGCAGGTAGGCGGGAAAGGC 0.607000 5 15 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761533 55761533 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr11:55761533G>A ENST00000278409.1 - 1 568 c.569C>T c.(568-570)tCt>tTt p.S190F NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GATTGTGTCAGAACAAGAGAG 0.453000 14 59 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8976759 8976759 + Nonsense_Mutation SNP C C A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr19:8976759C>A ENST00000397910.4 - 73 42510 c.42307G>T c.(42307-42309)Gag>Tag p.E14103* MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Nonsense_Mutation_p.E744* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14134 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCCCCTCGGTGGAGTTG 0.557000 15 23 1.49906e-05 1.61149e-05 1 1 0 OR4D11 219986 broad.mit.edu 37 11 59271436 59271436 + Missense_Mutation SNP C C G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr11:59271436C>G ENST00000313253.1 + 1 388 c.388C>G c.(388-390)Ctg>Gtg p.L130V NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTCCAAGCCCCTGCACTATGT 0.522000 33 156 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126710286 126710286 + Silent SNP A A G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr3:126710286A>G ENST00000251772.4 + 2 1254 c.1185A>G c.(1183-1185)acA>acG p.T395T PLXNA1_ENST00000393409.2_Silent_p.T418T Q9UIW2 PLXA1_HUMAN plexin A1 418 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGGGGGGCACAGTCACCATTG 0.652000 3 33 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 3988831 3988831 + Silent SNP C C G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr11:3988831C>G ENST00000300737.4 + 2 758 c.189C>G c.(187-189)ctC>ctG p.L63L STIM1_ENST00000527651.1_Silent_p.L63L NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 63 EF-hand. activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) ATGAGAAACTCAGCTTCGAGG 0.488000 20 68 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378031 55378031 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr19:55378031G>A ENST00000326321.3 + 9 1246 c.1213G>A c.(1213-1215)Gtt>Att p.V405I KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 405 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGATCACTGCGTTTTCATACA 0.512000 76 246 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512619 61512619 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr20:61512619C>T ENST00000266070.4 - 16 5014 c.4689G>A c.(4687-4689)gcG>gcA p.A1563A DIDO1_ENST00000395343.1_Silent_p.A1563A NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1563 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCAGGCGCCTCGCCTGCCGGG 0.692000 7 46 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44152173 44152173 + Missense_Mutation SNP G G A rs138705367 byFrequency TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr7:44152173G>A ENST00000223357.3 + 18 2539 c.2234G>A c.(2233-2235)cGg>cAg p.R745Q AEBP1_ENST00000450684.2_Missense_Mutation_p.R320Q NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 745 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 ACGGAGGTCCGGGCCATCATT 0.622000 10 29 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839480 42839480 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr19:42839480C>T ENST00000334370.4 + 5 1406 c.771C>T c.(769-771)ctC>ctT p.L257L MEGF8_ENST00000251268.6_Silent_p.L257L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 257 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGGGTGACCTCGTCCTATACA 0.612000 8 56 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76751728 76751728 + Silent SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr6:76751728G>A ENST00000369950.3 - 2 372 c.183C>T c.(181-183)ttC>ttT p.F61F IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 61 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.F61F(1)|p.F61L(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCCAAATCGAATATTCGTC 0.368000 20 74 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4771164 4771164 + Missense_Mutation SNP G G A rs149919336 by1000genomes TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr20:4771164G>A ENST00000379400.3 - 7 665 c.470C>T c.(469-471)aCg>aTg p.T157M RASSF2_ENST00000379376.2_Missense_Mutation_p.T157M|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 157 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GTCACTAGGCGTCCTCACATT 0.617000 5 28 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390857 197390857 + Missense_Mutation SNP G G T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr1:197390857G>T ENST00000367397.1 + 2 900 c.42G>T c.(40-42)atG>atT p.M14I CRB1_ENST00000535699.1_Missense_Mutation_p.M564I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I|CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000367400.3_Missense_Mutation_p.M633I|CRB1_ENST00000544212.1_Missense_Mutation_p.M114I P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 633 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCTATAATATGCCATCCACAC 0.403000 21 118 1.28384e-07 1.4339e-07 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 80085218 80085218 + Silent SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr2:80085218G>A ENST00000466387.1 + 8 1102 c.378G>A c.(376-378)gcG>gcA p.A126A CTNNA2_ENST00000402739.4_Silent_p.A126A|CTNNA2_ENST00000496558.1_Silent_p.A126A|CTNNA2_ENST00000541047.1_Silent_p.A126A|CTNNA2_ENST00000361291.4_Silent_p.A160A|CTNNA2_ENST00000540488.1_Silent_p.A126A P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 126 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGGTACGGGCGGCAAGGGCTT 0.552000 19 69 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149360594 149360594 + Missense_Mutation SNP A A C TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:149360594A>C ENST00000286298.4 + 3 1706 c.1438A>C c.(1438-1440)Aaa>Caa p.K480Q NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 480 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTCCCTTCAAAAAAGTGTCCT 0.423000 20 60 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47354797 47354797 + Missense_Mutation SNP C C A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr11:47354797C>A ENST00000399249.2 - 29 3332 c.3278G>T c.(3277-3279)gGc>gTc p.G1093V MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1092V|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G1093V Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1092 Fibronectin type-III 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CTCCGTGTTGCCGACATCCTG 0.637000 3 2 0.115264 0.118008 1 1 0 MED13L 23389 broad.mit.edu 37 12 116409989 116409989 + Silent SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr12:116409989G>A ENST00000281928.3 - 26 5990 c.5784C>T c.(5782-5784)ctC>ctT p.L1928L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1928 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ACACATCCTTGAGCTTTTTGC 0.468000 26 42 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 5 19 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 4 30 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156622478 156622478 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr1:156622478G>A ENST00000329117.4 + 8 2072 c.1736G>A c.(1735-1737)cGa>cAa p.R579Q RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 579 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGTCCCTCGAGGAGAGAGC 0.642000 8 34 0 0 1 0 0 INTS10 55174 broad.mit.edu 37 8 19683950 19683950 + Silent SNP G G T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr8:19683950G>T ENST00000397977.3 + 9 1418 c.1020G>T c.(1018-1020)ccG>ccT p.P340P NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 340 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) CTAATGCCCCGAGCCAAGTTC 0.488000 33 57 5.91797e-21 6.69665e-21 1 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 36 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108068062 108068062 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr6:108068062C>T ENST00000369022.2 - 3 353 c.144G>A c.(142-144)gcG>gcA p.A48A SCML4_ENST00000369021.3_Silent_p.A77A|SCML4_ENST00000369020.3_Silent_p.A106A Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GATAGGGCCCCGCATTGGCCT 0.642000 10 60 0 0 1 0 0 MPZL3 196264 broad.mit.edu 37 11 118104191 118104191 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr11:118104191C>T ENST00000278949.4 - 5 720 c.665G>A c.(664-666)cGt>cAt p.R222H MPZL3_ENST00000527472.1_Missense_Mutation_p.R210H|MPZL3_ENST00000525386.1_Missense_Mutation_p.V41I Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 222 cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CTCAGCGCAACGGACACAAAG 0.493000 4 45 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447504 226447504 + Silent SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr2:226447504C>T ENST00000272907.6 + 4 1784 c.1371C>T c.(1369-1371)taC>taT p.Y457Y NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 457 Pro-rich. CTCCCCCTTACGACGCTGTGC 0.622000 8 28 0 0 1 0 0 CYP1B1 1545 broad.mit.edu 37 2 38298060 38298060 + Missense_Mutation SNP C C A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr2:38298060C>A ENST00000260630.3 - 3 1838 c.1437G>T c.(1435-1437)caG>caT p.Q479H CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.Q479H NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 479 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) AGAGAAAAAGCTGCATCTTAG 0.463000 6 53 5.9392e-07 6.46546e-07 1 1 0 ZNF761 388561 broad.mit.edu 37 19 53960318 53960318 + RNA SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr19:53960318G>A ENST00000454407.1 + 0 3010 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACACTGGAGAGAAACCTTACC 0.423000 8 29 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76898824 76898824 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr4:76898824C>T ENST00000356260.5 - 4 498 c.380G>A c.(379-381)cGt>cAt p.R127H SDAD1_ENST00000395711.4_Intron NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 127 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATCATGGCAACGAAAAAGTTC 0.373000 11 49 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38154807 38154807 + Missense_Mutation SNP C C G TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr13:38154807C>G ENST00000379747.4 - 11 1537 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q POSTN_ENST00000379749.4_Missense_Mutation_p.E474Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E474Q|POSTN_ENST00000379743.4_Missense_Mutation_p.E474Q|POSTN_ENST00000541481.1_Missense_Mutation_p.E474Q|POSTN_ENST00000379742.4_Missense_Mutation_p.E474Q NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 474 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTCCCTTTCTCCATGCATGAA 0.408000 30 128 0 0 1 0 0 ZDHHC11 79844 broad.mit.edu 37 5 825360 825360 + Silent SNP T T C TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:825360T>C ENST00000283441.8 - 8 1325 c.942A>G c.(940-942)aaA>aaG p.K314K ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 314 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AGCTCTTGGCTTTGACTCTGG 0.552000 7 96 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48396084 48396084 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr16:48396084C>T ENST00000380006.2 - 1 1709 c.256G>A c.(256-258)Gct>Act p.A86T SIAH1_ENST00000394725.2_Missense_Mutation_p.A86T|SIAH1_ENST00000356721.3_Missense_Mutation_p.A117T Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 86 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) TTCTCCATAGCCAAGTTGCGA 0.463000 13 63 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115398176 115398176 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr1:115398176G>A ENST00000369522.3 + 2 331 c.91G>A c.(91-93)Gat>Aat p.D31N SYCP1_ENST00000369518.1_Missense_Mutation_p.D31N NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 31 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTGGGAGGCGATTCCACTTT 0.433000 12 37 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183774688 183774688 + Missense_Mutation SNP G G A TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr3:183774688G>A ENST00000318351.1 + 5 449 c.415G>A c.(415-417)Ggt>Agt p.G139S NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 139 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GACGCCTTCCGGTCTCACTGC 0.502000 27 129 0 0 1 0 0 NCMAP 400746 broad.mit.edu 37 1 24927452 24927452 + Frame_Shift_Del DEL C C - TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr1:24927452delC ENST00000374392.2 + 3 170 c.104delC c.(103-105)gcfs p.A35fs NCMAP_ENST00000486262.1_3'UTR NM_001010980.4 NP_001010980.1 noncompact myelin associated protein ATTGTTGCTGCCGTTGTGGTG 0.547 15 78 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422532 139422534 + In_Frame_Del DEL GCT GCT - TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr5:139422532_139422534delGCT ENST00000541337.1 - 1 350_352 c.121_123delAGC c.(121-123)del p.S41del NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000361474.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 41 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity p.S41delS(2) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgccgctctcgctgctgctgctg 0.700 2 4 --- --- --- --- STX11 8676 broad.mit.edu 37 6 144508360 144508361 + Frame_Shift_Del DEL GC GC - TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr6:144508360_144508361delGC ENST00000367568.4 + 2 779_780 c.596_597delGC c.(595-597)gfs p.G199fs NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 199 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GACGTGAAGGGCGCGCGGGCCG 0.634 Familial Hemophagocytic Lymphohistiocytosis 8 46 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 4 9 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61378551 61378552 + RNA INS - - T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b69a2eb7-d372-4bee-b621-5ed211223f92 230541f9-3ba3-4a77-9f10-0d76eff80f37 g.chr18:61378551_61378552insT ENST00000544088.1 + 0 230 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAAAAGATCCCTTTTTTTTCTT 0.337 10 47 --- --- --- ---