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 DOCK5 80005 broad.mit.edu 37 8 25253084 25253084 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr8:25253084C>T ENST00000276440.7 + 45 4597 c.4553C>T c.(4552-4554)gCc>gTc p.A1518V NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1518 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CTGGAGAATGCCATCGAAACC 0.512000 4 95 0 0 0.009096 0 0 MTM1 4534 broad.mit.edu 37 X 149832053 149832053 + Missense_Mutation SNP A A G TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chrX:149832053A>G ENST00000370396.2 + 14 1669 c.1615A>G c.(1615-1617)Att>Gtt p.I539V MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.I502V|MTM1_ENST00000543350.1_Missense_Mutation_p.I424V NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 539 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GAATTACTACATTAGATGGAA 0.363000 4 120 0 0 0.014758 0 0 TLN1 7094 broad.mit.edu 37 9 35716532 35716532 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr9:35716532C>T ENST00000314888.9 - 20 2833 c.2480G>A c.(2479-2481)cGc>cAc p.R827H TLN1_ENST00000540444.1_Missense_Mutation_p.R827H NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 827 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding p.R827H(1) NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCCAGGATGCGGGCCTGTCG 0.587000 4 90 0 0 0.009096 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 90 0 0 0.004672 0 0 OR4K2 390431 broad.mit.edu 37 14 20345045 20345045 + Missense_Mutation SNP G G T rs145713695 TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr14:20345045G>T ENST00000298642.2 + 1 655 c.619G>T c.(619-621)Gcg>Tcg p.A207S NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGCATAATTGCGTTGTCCTG 0.403000 11 354 0.000673444 0.000905666 0.069234 1 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 3 50 0 0 0.004672 0 0 SEC31B 25956 broad.mit.edu 37 10 102267770 102267770 + Silent SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr10:102267770C>T ENST00000370345.3 - 6 631 c.534G>A c.(532-534)cgG>cgA p.R178R NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000531258.1_3'UTR NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 178 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTTGGGCTTGCCGGTTCCAAG 0.517000 4 123 0 0 0.014758 0 0 BRIP1 83990 broad.mit.edu 37 17 59861733 59861733 + Missense_Mutation SNP C C A TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr17:59861733C>A ENST00000259008.2 - 11 1793 c.1526G>T c.(1525-1527)gGt>gTt p.G509V BRIP1_ENST00000577598.1_Missense_Mutation_p.G509V NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 509 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTCCTCTTTACCATAAATTGG 0.348000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 6 202 8.12818e-05 0.000113214 0.029380 1 0 NRD1 4898 broad.mit.edu 37 1 52260235 52260235 + Missense_Mutation SNP T T C TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr1:52260235T>C ENST00000354831.7 - 26 3077 c.2888A>G c.(2887-2889)cAg>cGg p.Q963R NRD1_ENST00000352171.7_Missense_Mutation_p.Q895R|NRD1_ENST00000539524.1_Missense_Mutation_p.Q831R|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 894 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 CTCTACCACCTGGAACTGCAC 0.493000 4 311 0 0 0.009096 0 0 SLC6A19 340024 broad.mit.edu 37 5 1219168 1219168 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr5:1219168C>T ENST00000304460.10 + 9 1380 c.1324C>T c.(1324-1326)Ccc>Tcc p.P442S NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 442 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGTCGTTGTGCCCCTGCAGGA 0.592000 3 32 0 0 0.009096 0 0 YPEL1 29799 broad.mit.edu 37 22 22055423 22055423 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr22:22055423C>T ENST00000339468.3 - 5 738 c.355G>A c.(355-357)Gag>Aag p.E119K NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 119 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) GCACATTACTCCCAGCCATTG 0.408000 3 30 0 0 0.009096 0 0 ANKRD11 29123 broad.mit.edu 37 16 89352008 89352008 + Silent SNP G G C TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr16:89352008G>C ENST00000301030.4 - 9 1402 c.942C>G c.(940-942)gtC>gtG p.V314V ANKRD11_ENST00000378330.2_Silent_p.V314V NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 314 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGTTGCCGTCGACTGAACTGG 0.572000 6 105 0 0 0.029380 0 0 BRIP1 83990 broad.mit.edu 37 17 59861734 59861734 + Missense_Mutation SNP C C A TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr17:59861734C>A ENST00000259008.2 - 11 1792 c.1525G>T c.(1525-1527)Ggt>Tgt p.G509C BRIP1_ENST00000577598.1_Missense_Mutation_p.G509C NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 509 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TCCTCTTTACCATAAATTGGT 0.343000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 6 199 8.12818e-05 0.000113214 0.029380 1 0 CDCA2 157313 broad.mit.edu 37 8 25340935 25340935 + Nonsense_Mutation SNP T T G TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr8:25340935T>G ENST00000330560.3 + 9 1530 c.1053T>G c.(1051-1053)taT>taG p.Y351* CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Y336*|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 351 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) ACAACCTCTATGATGATGATG 0.328000 4 46 0 0 0.014758 0 0 MUC3A 4584 broad.mit.edu 37 7 100606299 100606299 + Silent SNP C C G TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr7:100606299C>G ENST00000319509.7 + 3 1815 c.1815C>G c.(1813-1815)acC>acG p.T605T mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCAACAAGACCTTCTGGAATC 0.488000 2 6 0 0 0.004672 0 0 CFB 629 broad.mit.edu 37 6 31901656 31901656 + Missense_Mutation SNP A A C TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr6:31901656A>C ENST00000456570.1 + 4 498 c.443A>C c.(442-444)tAt>tCt p.Y148S C2_ENST00000442278.2_Missense_Mutation_p.Y78S|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.Y210S|CFB_ENST00000556679.1_Missense_Mutation_p.Y148S|C2_ENST00000452323.2_Missense_Mutation_p.Y87S|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.Y210S P00751 CFAB_HUMAN complement factor B 224 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCCTACTCTTATGACTTCCCT 0.627000 24 27 0 0 0.091800 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 4 24 0 0 0.009096 0 0 NSL1 25936 broad.mit.edu 37 1 212964938 212964938 + Silent SNP G G A TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr1:212964938G>A ENST00000366977.3 - 1 186 c.168C>T c.(166-168)ttC>ttT p.F56F NSL1_ENST00000366975.6_Silent_p.F56F|NSL1_ENST00000422588.2_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Silent_p.F56F NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component 56 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) GCTTTTGCACGAAGCGGCCGC 0.617000 14 197 0 0 0.105934 0 0 KCNK18 338567 broad.mit.edu 37 10 118969513 118969513 + Missense_Mutation SNP T T G TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr10:118969513T>G ENST00000334549.1 + 3 858 c.858T>G c.(856-858)atT>atG p.I286M NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 286 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TCCCCATCATTGCCCTTATTG 0.502000 12 129 0 0 0.080935 0 0 APOL6 80830 broad.mit.edu 37 22 36055153 36055153 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr22:36055153C>T ENST00000409652.3 + 3 818 c.542C>T c.(541-543)gCc>gTc p.A181V NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 181 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 TTGAAGTATGCCAAGAAAAAC 0.498000 4 80 0 0 0.014758 0 0 SOS1 6654 broad.mit.edu 37 2 39250247 39250247 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr2:39250247C>T ENST00000426016.1 - 11 1408 c.1322G>A c.(1321-1323)tGt>tAt p.C441Y SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.C441Y|SOS1_ENST00000402219.2_Missense_Mutation_p.C441Y Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 441 C -> Y (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAATTCATTACAACACTGTCC 0.363000 Noonan syndrome 4 112 0 0 0.014758 0 0 NANOS3 342977 broad.mit.edu 37 19 13991282 13991282 + Missense_Mutation SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr19:13991282C>T ENST00000397555.2 + 3 487 c.487C>T c.(487-489)Cct>Tct p.P163S NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.P182S|NANOS3_ENST00000591161.1_5'UTR NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 163 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAAGTCTGAGCCTTCGCCCTC 0.607000 OREG0025300 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 67 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 40 0 0 0.049695 0 0 GPAT2 150763 broad.mit.edu 37 2 96688465 96688465 + Missense_Mutation SNP G G A TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr2:96688465G>A ENST00000434632.1 - 22 2681 c.2222C>T c.(2221-2223)gCg>gTg p.A741V GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 741 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CTTTGGGTCCGCACACTCTGG 0.557000 5 206 0 0 0.014758 0 0 SLC12A9 56996 broad.mit.edu 37 7 100454533 100454533 + Silent SNP C C T TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr7:100454533C>T ENST00000354161.3 + 5 617 c.492C>T c.(490-492)taC>taT p.Y164Y SLC12A9_ENST00000415287.1_Silent_p.Y75Y|SLC12A9_ENST00000275729.3_Silent_p.Y75Y|SLC12A9_ENST00000540482.1_Silent_p.Y164Y|SLC12A9_ENST00000428758.1_Silent_p.Y164Y NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 164 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCAGGGCTACGGCTGGAACC 0.662000 24 49 0 0 0.083992 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798858 57798858 + Missense_Mutation SNP G G A TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr11:57798858G>A ENST00000302622.3 + 1 457 c.434G>A c.(433-435)tGc>tAc p.C145Y OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TGGGGCACCTGCATCCGTCTG 0.517000 4 87 0 0 0.009096 0 0 ZNF251 90987 broad.mit.edu 37 8 145948217 145948217 + Silent SNP G G A TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr8:145948217G>A ENST00000292562.7 - 5 1103 c.828C>T c.(826-828)ctC>ctT p.L276L ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GGTGAGAATTGAGTCCAAAAG 0.438000 6 61 0 0 0.021553 0 0 AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-DJ-A2QC-01A-11D-A18F-08 TCGA-DJ-A2QC-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dfee93-623d-49f1-aedb-105d3aa9b36b 5f9f4c5d-30a3-4d6f-8206-563c203fd539 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 2 4 --- --- --- ---