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 GRTP1 79774 broad.mit.edu 37 13 114009759 114009759 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr13:114009759G>A ENST00000375430.4 - 3 265 c.219C>T c.(217-219)caC>caT p.H73H GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375431.4_Silent_p.H73H Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 73 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CGCGGGCACGGTGCTCCAGCG 0.667000 4 34 0 0 0.00024832 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52779501 52779501 + Missense_Mutation SNP C C A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr4:52779501C>A ENST00000334635.5 + 10 946 c.766C>A c.(766-768)Cta>Ata p.L256I DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L300I|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L196I|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.L221I NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 256 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) GTGCAATGTCCTAGAGTTTAG 0.368000 5 27 3.59834e-05 0.0022215 3.59834e-05 1 0 RGL3 57139 broad.mit.edu 37 19 11508131 11508131 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr19:11508131C>T ENST00000380456.3 - 17 1952 c.1889G>A c.(1888-1890)cGa>cAa p.R630Q RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.R636Q NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 630 Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 CAAGATGCTTCGATACAGGTT 0.677000 10 73 0 0 0.00010058 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr21:11058340A>C ENST00000470054.1 - 0 324 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) GGGGTAAAGGAGAGAAATCTC 0.363000 5 102 0 0 1.23904e-05 0 0 DNAH5 1767 broad.mit.edu 37 5 13864596 13864596 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr5:13864596G>A ENST00000265104.4 - 28 4610 c.4506C>T c.(4504-4506)ctC>ctT p.L1502L CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1502 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTGCCCGGTGAGGGTGGTTA 0.458000 Kartagener syndrome 7 44 0 0 0.000157383 0 0 C12orf10 60314 broad.mit.edu 37 12 53696978 53696978 + Splice_Site SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr12:53696978G>A ENST00000267103.5 + 3 541 c.e3+1 C12orf10_ENST00000548632.1_Splice_Site|C12orf10_ENST00000549488.1_Intron NM_021640.3 NP_067653.3 Q86UA3 Q86UA3_HUMAN chromosome 12 open reading frame 10 cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 20 CTATGACAAGGTGGGGACCTG 0.612000 5 25 0 0 3.59834e-05 0 0 PLCB1 23236 broad.mit.edu 37 20 8698351 8698351 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr20:8698351G>A ENST00000378641.3 + 14 1844 c.1369G>A c.(1369-1371)Gat>Aat p.D457N PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.D457N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D457N NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 457 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAGCCCTATGGATTTAATGTA 0.403000 12 80 0 0 0.000308642 0 0 ANK3 288 broad.mit.edu 37 10 61836092 61836092 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr10:61836092G>A ENST00000280772.1 - 37 4738 c.4547C>T c.(4546-4548)cCa>cTa p.P1516L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1516 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGACTTGGCTGGCCCAGGCAC 0.473000 6 25 0 0 8.12818e-05 0 0 CSMD2 114784 broad.mit.edu 37 1 34276407 34276407 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:34276407G>A ENST00000373381.4 - 10 1559 c.1383C>T c.(1381-1383)ttC>ttT p.F461F CSMD2_ENST00000338325.1_Silent_p.F18F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 421 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGAATGGGGAAATTGGGGG 0.547000 25 71 0 0 0.000147802 0 0 IL36A 27179 broad.mit.edu 37 2 113764230 113764230 + Silent SNP G G A rs148950825 TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:113764230G>A ENST00000259211.6 + 3 591 c.180G>A c.(178-180)ggG>ggA p.G60G NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 60 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding p.G60G(1) large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 AAGACAGAGGGAACCCCATCT 0.522000 38 130 0 0 0.000191422 0 0 EIF4A1 1973 broad.mit.edu 37 17 7480012 7480012 + Splice_Site SNP T T A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr17:7480012T>A ENST00000293831.8 + 5 530 c.e5+2 EIF4A1_ENST00000577269.1_Splice_Site|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Splice_Site NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 GATACCTGTGTGAGTAATTCG 0.522000 11 33 0 0 3.86212e-05 0 0 OR51M1 390059 broad.mit.edu 37 11 5410654 5410654 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr11:5410654C>T ENST00000328611.3 + 1 48 c.26C>T c.(25-27)cCt>cTt p.P9L AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 9 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGCTCAGTCCTCAATTCATG 0.403000 7 133 0 0 0.000157383 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423245 107423245 + Silent SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:107423245C>T ENST00000409382.3 - 6 2089 c.1479G>A c.(1477-1479)caG>caA p.Q493Q ST6GAL2_ENST00000361686.4_Silent_p.Q493Q NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 493 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TGTTCAGGCGCTGCACCAGGA 0.622000 9 65 0 0 6.40141e-05 0 0 KCNH5 27133 broad.mit.edu 37 14 63174914 63174914 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr14:63174914G>A ENST00000322893.7 - 11 2547 c.2279C>T c.(2278-2280)cCc>cTc p.P760L KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 760 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CGTCTGAATGGGAGTAATCTG 0.532000 5 37 0 0 1.23904e-05 0 0 ERC2 26059 broad.mit.edu 37 3 56207504 56207504 + Silent SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr3:56207504C>T ENST00000288221.6 - 4 1374 c.1119G>A c.(1117-1119)acG>acA p.T373T NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 373 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GGAGAGCCTTCGTCTTGGCTG 0.488000 6 38 0 0 8.12818e-05 0 0 FLG 2312 broad.mit.edu 37 1 152280145 152280145 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:152280145C>T ENST00000368799.1 - 3 7252 c.7217G>A c.(7216-7218)gGa>gAa p.G2406E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2406 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) TCCAGACCTTCCTGCTGACCG 0.592000 Ichthyosis 12 103 0 0 9.7654e-05 0 0 C1orf116 79098 broad.mit.edu 37 1 207195689 207195689 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:207195689G>A ENST00000359470.5 - 4 1669 c.1420C>T c.(1420-1422)Ctg>Ttg p.L474L C1orf116_ENST00000461135.2_Silent_p.L228L NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 474 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) ATCTGTCTCAGGCCAGGGGTG 0.557000 5 32 0 0 3.59834e-05 0 0 PI15 51050 broad.mit.edu 37 8 75756325 75756325 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr8:75756325G>A ENST00000260113.2 + 3 562 c.383G>A c.(382-384)cGc>cAc p.R128H RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128H NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 128 extracellular region peptidase inhibitor activity p.R128H(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CTATCTGTACGCACTGGAAGG 0.408000 18 113 0 0 9.7654e-05 0 0 PCSK5 5125 broad.mit.edu 37 9 78925636 78925636 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr9:78925636G>A ENST00000545128.1 + 29 4210 c.3672G>A c.(3670-3672)agG>agA p.R1224R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 870 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTTCCGTAAGGAGTGGGAGCT 0.557000 4 15 0 0 0.00024832 0 0 MAP1A 4130 broad.mit.edu 37 15 43817052 43817052 + Silent SNP A A G TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr15:43817052A>G ENST00000382031.1 + 5 4126 c.4095A>G c.(4093-4095)caA>caG p.Q1365Q MAP1A_ENST00000399453.1_Silent_p.Q1127Q|MAP1A_ENST00000300231.5_Silent_p.Q1127Q P78559 MAP1A_HUMAN microtubule-associated protein 1A 1127 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTTTACCCCAAGAACCTGGCA 0.532000 16 38 0 0 0.000422831 0 0 PDIA2 64714 broad.mit.edu 37 16 336416 336416 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr16:336416G>A ENST00000219406.6 + 8 1201 c.1183G>A c.(1183-1185)Ggc>Agc p.G395S PDIA2_ENST00000404312.1_Missense_Mutation_p.G392S NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 395 Thioredoxin 2. apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GACCCTCGTGGGCAAGAATTT 0.577000 5 36 0 0 1.23904e-05 0 0 EMR3 84658 broad.mit.edu 37 19 14748943 14748943 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr19:14748943C>T ENST00000253673.5 - 11 1558 c.1458G>A c.(1456-1458)tgG>tgA p.W486* EMR3_ENST00000443157.2_Nonsense_Mutation_p.W360*|EMR3_ENST00000599900.1_Nonsense_Mutation_p.W271*|EMR3_ENST00000344373.4_Nonsense_Mutation_p.W434* NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 486 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AAAGGTGAGGCCAGGAGGCTG 0.498000 14 78 0 0 0.000308642 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 38 0 0 0.000274275 0 0 KRT5 3852 broad.mit.edu 37 12 52914008 52914008 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr12:52914008G>A ENST00000252242.4 - 1 463 c.73C>T c.(73-75)Ccg>Tcg p.P25S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 25 Head. P -> L (in MP-EBS; dbSNP:rs57499817). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GAGACAGACGGGGTGATGGCA 0.657000 5 16 0 0 1.23904e-05 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 2 0 0 0 6.4e-05 0 0 NEK5 341676 broad.mit.edu 37 13 52639739 52639739 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr13:52639739G>A ENST00000355568.4 - 22 2070 c.1931C>T c.(1930-1932)tCc>tTc p.S644F NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 644 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AGTCTGCGTGGAAAACCCTGG 0.502000 9 36 0 0 0.000442599 0 0 AMPD1 270 broad.mit.edu 37 1 115221134 115221134 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:115221134G>A ENST00000369538.3 - 7 1046 c.999C>T c.(997-999)atC>atT p.I333I AMPD1_ENST00000353928.6_Silent_p.I304I|AMPD1_ENST00000520113.2_Silent_p.I337I NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 304 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) Adenosine monophosphate(DB00131) CGGCTGCATGGATATGGGTGT 0.398000 6 30 0 0 0.000442599 0 0 SBNO1 55206 broad.mit.edu 37 12 123782672 123782672 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr12:123782672C>T ENST00000420886.2 - 30 3891 c.3892G>A c.(3892-3894)Ggt>Agt p.G1298S SBNO1_ENST00000602398.1_Missense_Mutation_p.G1298S|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1297S|SBNO1_ENST00000267176.4_Missense_Mutation_p.G1297S NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1298 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CAACGAAGACCTATTTCACAA 0.418000 10 50 0 0 3.86212e-05 0 0 NLRP9 338321 broad.mit.edu 37 19 56243679 56243679 + Missense_Mutation SNP C C A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr19:56243679C>A ENST00000332836.2 - 2 1545 c.1518G>T c.(1516-1518)atG>atT p.M506I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 506 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGGTCTCCAGCATGCTGACGA 0.443000 17 78 6.94344e-10 4.36321e-08 7.07596e-05 1 0 C1orf116 79098 broad.mit.edu 37 1 207195703 207195703 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:207195703C>T ENST00000359470.5 - 4 1655 c.1406G>A c.(1405-1407)aGc>aAc p.S469N C1orf116_ENST00000461135.2_Missense_Mutation_p.S223N NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 469 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) AGGGGTGTTGCTCTCCTGGAG 0.552000 4 33 0 0 3.59834e-05 0 0 CASS4 57091 broad.mit.edu 37 20 55012445 55012445 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr20:55012445G>A ENST00000371336.3 + 2 463 c.262G>A c.(262-264)Gaa>Aaa p.E88K CASS4_ENST00000360314.3_Missense_Mutation_p.E88K|CASS4_ENST00000434344.1_Missense_Mutation_p.E88K NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 88 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GAGAGGCCTGGAAGAAGCTCC 0.637000 8 22 0 0 0.000157383 0 0 CHD8 57680 broad.mit.edu 37 14 21870235 21870235 + Missense_Mutation SNP T T A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr14:21870235T>A ENST00000399982.2 - 19 4007 c.3943A>T c.(3943-3945)Atc>Ttc p.I1315F CHD8_ENST00000557364.1_Missense_Mutation_p.I1315F|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.I1036F NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1315 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCCTCCATGATGGCTGCATAT 0.378000 7 54 0 0 8.12818e-05 0 0 UBE2F 140739 broad.mit.edu 37 2 238940897 238940897 + Splice_Site SNP T T C TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:238940897T>C ENST00000272930.4 + 8 638 c.e8+2 UBE2F_ENST00000409633.1_Splice_Site|UBE2F_ENST00000409953.1_Splice_Site|UBE2F_ENST00000409332.1_Splice_Site|UBE2F_ENST00000414443.1_Splice_Site|UBE2F-SCLY_ENST00000449191.1_Intron NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) protein neddylation ATP binding|NEDD8 ligase activity|protein binding endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) TTGTTTACTGTAAGTACAGTG 0.328000 4 19 0 0 3.59834e-05 0 0 CLASRP 11129 broad.mit.edu 37 19 45570681 45570681 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr19:45570681C>T ENST00000544944.2 + 13 2188 c.1496C>T c.(1495-1497)tCc>tTc p.S499F CLASRP_ENST00000221455.3_Missense_Mutation_p.S499F|CLASRP_ENST00000391953.4_Missense_Mutation_p.S437F Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 499 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 AGCAGCTGGTCCCTCAGCCCG 0.746000 10 40 0 0 3.86212e-05 0 0 RBM6 10180 broad.mit.edu 37 3 50005048 50005048 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr3:50005048C>T ENST00000266022.4 + 3 449 c.190C>T c.(190-192)Cct>Tct p.P64S RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 64 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TTCGGGGCCTCCTTTTGCAAA 0.527000 6 81 0 0 8.12818e-05 0 0 TMEM260 54916 broad.mit.edu 37 14 57075882 57075882 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr14:57075882C>T ENST00000261556.6 + 6 817 c.695C>T c.(694-696)cCc>cTc p.P232L TMEM260_ENST00000538838.1_Missense_Mutation_p.P232L|TMEM260_ENST00000536419.1_5'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 GGTTTGCTGCCCTATGTCCAC 0.473000 16 302 0 0 0.000422831 0 0 MBD5 55777 broad.mit.edu 37 2 149248079 149248079 + Silent SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:149248079C>T ENST00000407073.1 + 12 5176 c.4179C>T c.(4177-4179)atC>atT p.I1393I MBD5_ENST00000404807.1_Silent_p.I1626I NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1393 PWWP. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GGGGCCAAATCAAAGGACTGA 0.448000 14 66 0 0 0.000219431 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984915 140984915 + Missense_Mutation SNP T T G TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chrX:140984915T>G ENST00000298296.1 + 7 1371 c.1371T>G c.(1369-1371)gaT>gaG p.D457E MAGEC3_ENST00000409007.1_Missense_Mutation_p.D159E|MAGEC3_ENST00000443323.2_Missense_Mutation_p.D79E|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.D159E|MAGEC3_ENST00000536088.1_Missense_Mutation_p.D159E NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 457 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ATGCCCTGGATGAAAAGGTGG 0.483000 8 26 0 0 0.000274275 0 0 SORL1 6653 broad.mit.edu 37 11 121430338 121430338 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr11:121430338G>A ENST00000260197.7 + 21 3150 c.3021G>A c.(3019-3021)atG>atA p.M1007I NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1007 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TCATGGACATGAAGATTTTCT 0.498000 7 63 0 0 0.000157383 0 0 RSPO1 284654 broad.mit.edu 37 1 38082349 38082349 + Splice_Site SNP T T C TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:38082349T>C ENST00000356545.2 - 5 882 c.e5-2 RSPO1_ENST00000401068.1_Splice_Site|RSPO1_ENST00000401069.1_Splice_Site|RSPO1_ENST00000401071.2_Splice_Site|RSPO1_ENST00000401070.1_Splice_Site|RSPO1_ENST00000373059.1_Splice_Site NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGCACTGACTGCAAAGGTGG 0.557000 4 62 0 0 0.00024832 0 0 TTC31 64427 broad.mit.edu 37 2 74719860 74719860 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:74719860C>T ENST00000233623.5 + 12 1256 c.1249C>T c.(1249-1251)Ctc>Ttc p.L417F TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 417 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CTCTTGCCTTCTCCACCTCAC 0.592000 10 34 0 0 6.40141e-05 0 0 OSMR 9180 broad.mit.edu 37 5 38881844 38881844 + Nonsense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr5:38881844G>A ENST00000274276.3 + 4 798 c.396G>A c.(394-396)tgG>tgA p.W132* OSMR_ENST00000502536.1_Nonsense_Mutation_p.W132* NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 132 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GGAGCAACTGGAGTTCCTGGG 0.423000 12 74 0 0 0.000422831 0 0 DENND6A 201627 broad.mit.edu 37 3 57651848 57651848 + Splice_Site SNP A A G TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr3:57651848A>G ENST00000311128.5 - 4 503 c.e4+1 NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A TACTTTTCCAACCTTTAAGTA 0.378000 9 54 0 0 0.000274275 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148695801 148695801 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr5:148695801C>T ENST00000296721.4 + 11 1300 c.1202C>T c.(1201-1203)tCc>tTc p.S401F AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S401F NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 401 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGGCTTCTCCAAGAAGAAG 0.602000 9 71 0 0 0.000274275 0 0 KLHL40 131377 broad.mit.edu 37 3 42728022 42728022 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr3:42728022G>A ENST00000287777.4 + 1 1012 c.912G>A c.(910-912)ggG>ggA p.G304G NM_152393.2 NP_689606.2 kelch-like family member 40 TCCTTCCTGGGATCCTCAATG 0.567000 15 69 0 0 0.000308642 0 0 DNAH7 56171 broad.mit.edu 37 2 196851910 196851910 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:196851910C>T ENST00000312428.6 - 14 1734 c.1634G>A c.(1633-1635)cGt>cAt p.R545H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 545 Stem (By similarity). R -> C (in dbSNP:rs10931715). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATTCCTAAACGAATAGTCTG 0.294000 8 35 0 0 0.000274275 0 0 POTEE 445582 broad.mit.edu 37 2 132021757 132021757 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:132021757G>A ENST00000356920.5 + 15 2823 c.2729G>A c.(2728-2730)cGt>cAt p.R910H POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 910 Actin-like. ATP binding GAAATCGTGCGTGACATCAAA 0.602000 9 146 0 0 0.000151284 0 0 LRP1B 53353 broad.mit.edu 37 2 141773459 141773459 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:141773459C>T ENST00000389484.3 - 13 2967 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 666 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTTCATCTTCCTCCCAGTCT 0.413000 TSP Lung(27;0.18) 12 60 0 0 0.000151284 0 0 FOXF2 2295 broad.mit.edu 37 6 1394974 1394974 + Silent SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr6:1394974C>T ENST00000259806.1 + 2 1329 c.1215C>T c.(1213-1215)gaC>gaT p.D405D NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 405 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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 factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CAGTGTGTGACAGAAAAGATT 0.458000 8 82 0 0 0.000442599 0 0 KBTBD6 89890 broad.mit.edu 37 13 41706580 41706580 + Missense_Mutation SNP T T C TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr13:41706580T>C ENST00000379485.1 - 1 302 c.68A>G c.(67-69)aAg>aGg p.K23R KBTBD6_ENST00000499385.2_Missense_Mutation_p.K23R NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 23 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GTGAATCTTCTTGGGCCGCTT 0.617000 27 109 0 0 0.000147802 0 0 ARAP1 116985 broad.mit.edu 37 11 72423666 72423666 + Translation_Start_Site SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr11:72423666C>T ENST00000393605.3 - 0 530 ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000359373.5_Intron Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 ACAGATCACACCCACCCGGGG 0.677000 19 89 0 0 9.7654e-05 0 0 SDPR 8436 broad.mit.edu 37 2 192701266 192701266 + Missense_Mutation SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:192701266C>T ENST00000304141.4 - 2 990 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 221 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TCCACCTTTTCCTCGGCACTG 0.483000 14 89 0 0 0.000151284 0 0 LPAR4 2846 broad.mit.edu 37 X 78010399 78010399 + Silent SNP C C T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chrX:78010399C>T ENST00000435339.2 + 2 438 c.33C>T c.(31-33)ttC>ttT p.F11F RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.F11F NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 11 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 ACTTCCAATTCCAAGATTCAA 0.453000 15 27 0 0 0.000308642 0 0 PRDX1 5052 broad.mit.edu 37 1 45977053 45977054 + Frame_Shift_Ins INS - - T TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr1:45977053_45977054insT ENST00000262746.1 - 6 886_887 c.547_548insA c.(547-549)catfs p.H183fs PRDX1_ENST00000372079.1_Frame_Shift_Ins_p.H81fs|PRDX1_ENST00000319248.8_Frame_Shift_Ins_p.H183fs NM_002574.3|NM_181696.2 NP_002565.1|NP_859047.1 Q06830 PRDX1_HUMAN peroxiredoxin 1 183 cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) AGGCTTGATGGTATCACTGCCA 0.495 32 196 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101721933 101721933 + Frame_Shift_Del DEL T T - rs112966887 TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr8:101721933delT ENST00000318607.5 - 8 2127 c.999delA c.(997-999)aafs p.K333fs PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 333 RRM 4. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) AACCAAACCCTTTGCTGCGAC 0.383 9 74 --- --- --- --- SMC2 10592 broad.mit.edu 37 9 106862421 106862422 + Frame_Shift_Ins INS - - A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr9:106862421_106862422insA ENST00000286398.7 + 6 816_817 c.528_529insA c.(526-531)taaaaafs p.*K176fs SMC2_ENST00000374787.3_Frame_Shift_Ins_p.*K176fs|SMC2_ENST00000374793.3_Frame_Shift_Ins_p.*K176fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.*K176fs NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 176 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TGTATGAATACAAAAAAATAGC 0.317 9 87 --- --- --- --- DGKZ 8525 broad.mit.edu 37 11 46387931 46387933 + In_Frame_Del DEL CCT CCT - TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr11:46387931_46387933delCCT ENST00000454345.1 + 2 250_252 c.125_127delCCT c.(124-129)gcc>g p.AS42del DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 42 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) GCTGGGCAGGCCTCCTCCTCACT 0.759 3 4 --- --- --- --- SLC9A7P1 121456 broad.mit.edu 37 12 98850722 98850722 + RNA DEL C C - TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr12:98850722delC ENST00000554295.1 - 0 201 NR_033801.1 TTCTCAGTGACGAGCTCCTCC 0.647 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579399 7579399 + Frame_Shift_Del DEL A A - TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr17:7579399delA ENST00000420246.2 - 4 420 c.288delT c.(286-288)tcfs p.S96fs TP53_ENST00000359597.4_Frame_Shift_Del_p.S96fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S96fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S96fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S96fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S96fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 96 Interaction with WWOX. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; 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.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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) GGGAAGGGACAGAAGATGACA 0.637 111 """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) 7 41 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b80a0277-7426-44ec-871f-363e9db7af50 ea52816d-f4fd-4a43-b004-20dc0f4cb59d g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 9 8 --- --- --- ---