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 NUTM2D 728130 broad.mit.edu 37 10 89120919 89120919 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr10:89120919C>T ENST00000412718.1 + 2 1394 c.848C>T c.(847-849)gCg>gTg p.A283V NUTM2D_ENST00000381697.2_Missense_Mutation_p.A283V NUT family member 2D GACACCGAAGCGCTTTCGTGC 0.597000 22 140 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166060 21166060 + Missense_Mutation SNP T T A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr9:21166060T>A ENST00000380225.1 - 1 599 c.552A>T c.(550-552)agA>agT p.R184S NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 184 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCCTCCTTAATCTTTCTTGAA 0.383000 67 93 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38126718 38126718 + Missense_Mutation SNP T T G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr4:38126718T>G ENST00000261439.4 + 18 3453 c.3098T>G c.(3097-3099)cTt>cGt p.L1033R TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1033 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTACCCAACCTTGGCTTGGTA 0.408000 21 55 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57349283 57349283 + Missense_Mutation SNP T T A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr1:57349283T>A ENST00000361249.3 + 6 880 c.784T>A c.(784-786)Ttg>Atg p.L262M NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 262 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CAGCCCTTTATTGGTGGGTGT 0.403000 14 47 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5067912 5067912 + Missense_Mutation SNP G G T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr11:5067912G>T ENST00000380370.1 + 1 157 c.157G>T c.(157-159)Gta>Tta p.V53L NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCATCAAGGTAGAACAGAC 0.517000 43 38 4.14194e-30 4.65968e-30 1 1 0 NSD1 64324 broad.mit.edu 37 5 176687001 176687001 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr5:176687001C>T ENST00000439151.2 + 14 5023 c.4978C>T c.(4978-4980)Cgc>Tgc p.R1660C NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1660 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.R1660C(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCGGTTGATGCGCTGTGTCCG 0.403000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 4 150 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102974035 102974035 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chrX:102974035C>T ENST00000372617.4 - 7 1303 c.883G>A c.(883-885)Gtg>Atg p.V295M NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 295 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ATGGTGAGCACGGTGGTGATG 0.582000 36 134 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793160 4793160 + Missense_Mutation SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr19:4793160G>A ENST00000269856.3 + 1 1433 c.1294G>A c.(1294-1296)Gcc>Acc p.A432T AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 432 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CCCCATGACCGCCAGCAGCTT 0.617000 4 130 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44921455 44921455 + Missense_Mutation SNP T T G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr15:44921455T>G ENST00000261866.7 - 9 1883 c.1867A>C c.(1867-1869)Aag>Cag p.K623Q SPG11_ENST00000427534.2_Missense_Mutation_p.K623Q|SPG11_ENST00000558319.1_Missense_Mutation_p.K623Q|SPG11_ENST00000535302.2_Missense_Mutation_p.K623Q|SPG11_ENST00000559193.1_Missense_Mutation_p.K623Q NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 623 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AAAAGCTCCTTTATTTGGTTG 0.398000 27 50 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 3 14 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979475 50979475 + Silent SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr19:50979475C>T ENST00000600100.1 - 1 535 c.171G>A c.(169-171)ccG>ccA p.P57P FAM71E1_ENST00000595790.1_Silent_p.P57P Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 57 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) CCCCGTCCGACGGGAGCGGAC 0.662000 42 32 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42513913 42513913 + Splice_Site SNP C C A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr17:42513913C>A ENST00000591680.1 - 4 224 c.193_splice c.e4-1 p.G65_splice GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR NM_001002909.2 NP_001002909.1 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 65 G-patch. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATCTGTTCTCCCTGTAACAGG 0.428000 25 10 1.16021e-09 1.20483e-09 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 83 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825411 21825411 + RNA SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr17:21825411G>A ENST00000426869.3 + 0 115 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) gcagggcttcggtgtcggggc 0.622000 10 4 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175050 51175050 + Silent SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr16:51175050C>T ENST00000440970.1 - 2 1223 c.792G>A c.(790-792)ggG>ggA p.G264G SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.G361G|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 361 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CATGGGAGGCCCCAGCACTTG 0.507000 24 58 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167985 18167985 + Silent SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr17:18167985C>T ENST00000323019.4 + 4 1483 c.1272C>T c.(1270-1272)agC>agT p.S424S SMCR7_ENST00000395706.2_Silent_p.S435S|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 424 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) TCAACCCCAGCGTGAACCTCT 0.622000 26 21 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38913145 38913145 + Missense_Mutation SNP C C G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr3:38913145C>G ENST00000302328.3 - 21 3748 c.3550G>C c.(3550-3552)Gtc>Ctc p.V1184L SCN11A_ENST00000444237.2_Missense_Mutation_p.V1184L|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1146L|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1184L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1184 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGAGGCAGACAAGCAAAACA 0.383000 26 21 0 0 1 0 0 RLBP1 6017 broad.mit.edu 37 15 89758399 89758399 + Silent SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr15:89758399G>A ENST00000268125.5 - 6 856 c.417C>T c.(415-417)acC>acT p.T139T NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 139 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CAGCTTCAATGGTGCAGCGGA 0.547000 21 133 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184001716 184001716 + Silent SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr3:184001716C>T ENST00000402825.3 + 8 1314 c.1314C>T c.(1312-1314)cgC>cgT p.R438R ECE2_ENST00000357474.5_Silent_p.R366R|ECE2_ENST00000359140.4_Silent_p.R291R|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.R320R NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 438 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCAGCGGCGCGACGAGGAGA 0.637000 7 39 0 0 1 0 0 RLBP1 6017 broad.mit.edu 37 15 89755000 89755000 + Missense_Mutation SNP G G T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr15:89755000G>T ENST00000268125.5 - 7 1097 c.658C>A c.(658-660)Ctc>Atc p.L220I NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 220 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) ATCTTCCTGAGATCTGAAGTC 0.547000 20 70 5.26018e-13 5.68099e-13 1 1 0 DEFA5 1670 broad.mit.edu 37 8 6913033 6913033 + Missense_Mutation SNP T T G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr8:6913033T>G ENST00000330590.2 - 2 241 c.205A>C c.(205-207)Acc>Ccc p.T69P NM_021010.1 NP_066290.1 Q01523 DEF5_HUMAN defensin, alpha 5, Paneth cell-specific 69 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CAACGGCCGGTTCGGCAATAG 0.562000 4 3 0 0 1 0 0 ZMYND11 10771 broad.mit.edu 37 10 292708 292708 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr10:292708C>T ENST00000397962.3 + 11 1381 c.953C>T c.(952-954)gCc>gTc p.A318V ZMYND11_ENST00000602682.1_Missense_Mutation_p.A233V|ZMYND11_ENST00000381607.4_Missense_Mutation_p.A224V|ZMYND11_ENST00000381584.1_Missense_Mutation_p.A301V|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A287V|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A317V|ZMYND11_ENST00000558098.2_Missense_Mutation_p.A318V|ZMYND11_ENST00000545619.1_Missense_Mutation_p.A198V|ZMYND11_ENST00000535374.1_Missense_Mutation_p.A113V|ZMYND11_ENST00000403354.1_Missense_Mutation_p.A238V|ZMYND11_ENST00000381604.4_Missense_Mutation_p.A278V|ZMYND11_ENST00000381591.1_Missense_Mutation_p.A318V|ZMYND11_ENST00000381602.4_Missense_Mutation_p.A278V|ZMYND11_ENST00000309776.4_Missense_Mutation_p.A278V|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A233V Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 278 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TTTCCTAGGGCCTGGATTCCT 0.473000 11 32 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51196725 51196725 + Silent SNP G G T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr3:51196725G>T ENST00000266037.9 + 11 902 c.879G>T c.(877-879)gtG>gtT p.V293V NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 293 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGCCCATGTGATCCGAATAG 0.378000 17 33 7.21436e-19 7.95052e-19 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 80 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42513914 42513914 + Splice_Site SNP C C A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr17:42513914C>A ENST00000434000.1 - 5 242 c.e5-1 GPATCH8_ENST00000591680.1_Splice_Site|GPATCH8_ENST00000586265.1_Splice_Site Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TCTGTTCTCCCTGTAACAGGA 0.423000 24 10 1.12875e-08 1.12875e-08 1 1 0 PBX4 80714 broad.mit.edu 37 19 19680947 19680947 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr19:19680947C>T ENST00000251203.8 - 4 889 c.603G>A c.(601-603)atG>atA p.M201I NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 201 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 AACGCAGGGTCATCACTGCCT 0.597000 24 17 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18959758 18959758 + Silent SNP T T A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chrX:18959758T>A ENST00000379942.4 - 8 1418 c.753A>T c.(751-753)acA>acT p.T251T NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 251 Missing (in GSD9A; type 2). glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TTTCTTTAGATGTCGACGCTC 0.413000 27 79 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168189644 168189644 + Missense_Mutation SNP C C T rs73802391 byFrequency TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr5:168189644C>T ENST00000519560.1 - 15 1929 c.1510G>A c.(1510-1512)Gtg>Atg p.V504M SLIT3_ENST00000404867.3_Missense_Mutation_p.V504M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V504M NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 504 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCGGGGCACACGAGGTCCATG 0.612000 8 227 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 44 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130412683 130412683 + Missense_Mutation SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chrX:130412683G>A ENST00000370904.1 - 18 2676 c.1766C>T c.(1765-1767)aCc>aTc p.T589I IGSF1_ENST00000361420.3_Missense_Mutation_p.T598I|IGSF1_ENST00000370903.3_Missense_Mutation_p.T603I|IGSF1_ENST00000370910.1_Missense_Mutation_p.T589I Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 598 Ig-like C2-type 6. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGGAAAGTTGGTCTCTGCCCA 0.547000 39 105 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195512118 195512118 + Silent SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr3:195512118G>A ENST00000463781.3 - 2 6792 c.6333C>T c.(6331-6333)acC>acT p.T2111T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2111T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 880 EGF-like 2. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CATGAAGAGCGGTGGCGTGAC 0.572000 3 3 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70037717 70037717 + Missense_Mutation SNP C C A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr6:70037717C>A ENST00000370598.1 + 22 3792 c.2971C>A c.(2971-2973)Cca>Aca p.P991T BAI3_ENST00000238918.8_Missense_Mutation_p.P197T NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 991 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGCAGGTTTACCAGCATTAGT 0.393000 21 41 4.35082e-09 4.43291e-09 1 1 0 NUDCD3 23386 broad.mit.edu 37 7 44524807 44524807 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr7:44524807C>T ENST00000355451.6 - 2 548 c.269G>A c.(268-270)aGa>aAa p.R90K NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 90 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 CTCTTCCTTTCTTCTGATTTT 0.473000 21 56 0 0 1 0 0 EBP 10682 broad.mit.edu 37 X 48382378 48382378 + Silent SNP G G A TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chrX:48382378G>A ENST00000495186.1 + 2 1042 c.219G>A c.(217-219)ggG>ggA p.G73G EBP_ENST00000276096.6_3'UTR NM_006579.2 NP_006570.1 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 73 cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1) 11 CAGTGTGTGGGTTCATTCACC 0.537000 23 80 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38126700 38126700 + Missense_Mutation SNP A A G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr4:38126700A>G ENST00000261439.4 + 18 3435 c.3080A>G c.(3079-3081)aAa>aGa p.K1027R TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1027 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GACTTTATAAAAAGCACGCTA 0.418000 28 67 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108222676 108222676 + Missense_Mutation SNP C C T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr6:108222676C>T ENST00000369002.4 - 13 1434 c.1255G>A c.(1255-1257)Gat>Aat p.D419N NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 419 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) GTGTGACGATCTGATTCTTTT 0.318000 27 27 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149441326 149441326 + Nonsense_Mutation SNP G G T TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr5:149441326G>T ENST00000286301.3 - 12 2004 c.1713C>A c.(1711-1713)taC>taA p.Y571* CSF1R_ENST00000515239.1_5'UTR NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 571 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ACTTCTCGTTGTAAGGCAGCT 0.552000 19 111 3.51602e-12 3.72284e-12 1 1 0 EFR3A 23167 broad.mit.edu 37 8 132982870 132982870 + Missense_Mutation SNP A A G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr8:132982870A>G ENST00000254624.5 + 10 1364 c.1139A>G c.(1138-1140)aAt>aGt p.N380S EFR3A_ENST00000519656.1_Missense_Mutation_p.N344S|EFR3A_ENST00000334503.4_Missense_Mutation_p.N380S NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 380 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATTGTGCAGAATGCTATCATC 0.368000 46 78 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1638057 1638058 + Frame_Shift_Ins INS - - G TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr2:1638057_1638058insG ENST00000252804.4 - 23 4408_4409 c.4358_4359insC c.(4357-4359)cgcfs p.R1453fs NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1453 VWFC. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CACAGGTGGCAGGGGGGCAAGC 0.624 7 10 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216226286 216226286 + Frame_Shift_Del DEL G G - rs146924311 by1000genomes TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr2:216226286delG ENST00000354785.4 - 46 7795 c.7426delC c.(7426-7428)gafs p.R2476fs FN1_ENST00000357009.2_3'UTR|FN1_ENST00000357867.4_Frame_Shift_Del_p.R2175fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.R2295fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.R2183fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.R2264fs|FN1_ENST00000346544.3_Frame_Shift_Del_p.R2210fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.R2239fs|FN1_ENST00000359671.1_Frame_Shift_Del_p.R2385fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.R2354fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.R2266fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.R2445fs|FN1_ENST00000446046.1_Frame_Shift_Del_p.R2329fs P02751 FINC_HUMAN fibronectin 1 2385 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTTACTCTCGGGAATCTTCT 0.408 33 129 --- --- --- --- IQCF5 389124 broad.mit.edu 37 3 51908064 51908064 + Frame_Shift_Del DEL C C - TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr3:51908064delC ENST00000446461.1 - 2 184 c.132delG c.(130-132)tgfs p.W45fs IQCF5-AS1_ENST00000440723.1_RNA NM_001145059.1 NP_001138531.1 A8MTL0 IQCF5_HUMAN IQ motif containing F5 45 kidney(1) 1 CCTGCCTCCACCAGCACTGAA 0.602 2 4 --- --- --- --- POMZP3 22932 broad.mit.edu 37 7 76255354 76255356 + In_Frame_Del DEL TCC TCC - TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr7:76255354_76255356delTCC ENST00000310842.4 - 2 710_712 c.26_28delGGA c.(25-30)atc>a p.RI9del UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_In_Frame_Del_p.RI9del|UPK3B_ENST00000443097.2_Intron NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 9 kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) GGAGGGGCGATCCTCAGAGTCAC 0.507 12 58 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434685 49434685 + Frame_Shift_Del DEL C C - TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr12:49434685delC ENST00000301067.7 - 31 6867 c.6868delG c.(6868-6870)aafs p.E2291fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAAGCTCTTCCTTCTTCACC 0.622 25 37 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 4 3 --- --- --- --- E2F4 1874 broad.mit.edu 37 16 67226952 67226952 + Frame_Shift_Del DEL A A - TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr16:67226952delA ENST00000379378.3 + 3 345 c.286delA c.(286-288)aafs p.K96fs E2F4_ENST00000564718.1_3'UTR NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding 96 Dimerization (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) GATTGCTGACAAACTGATTGA 0.612 2 4 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2569368 2569368 + Frame_Shift_Del DEL T T - TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4211c6c7-de22-4a5e-ac2a-f5fb7e448692 b65e341c-8a4d-457c-a2e9-c829a3f6a677 g.chr17:2569368delT ENST00000397195.5 + 4 627 c.176delT c.(175-177)atfs p.I59fs NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 59 Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity). acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 ACATCTGTTATTAGATTACAA 0.224 2 4 --- --- --- ---