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 RABGAP1 23637 broad.mit.edu 37 9 125832650 125832650 + Missense_Mutation SNP G G A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr9:125832650G>A uc011lzh.2 + 14 2064 c.1930G>A c.(1930-1932)Gag>Aag p.E644K RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_5'UTR NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 644 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GTATGATGAAGAGATTGGTTA 0.438000 5 101 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8875180 8875180 + Missense_Mutation SNP G G A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr16:8875180G>A uc002czc.4 + 15 1562 c.1396G>A c.(1396-1398)Ggc>Agc p.G466S ABAT_uc002czd.4_Missense_Mutation_p.G466S|ABAT_uc010buh.3_Missense_Mutation_p.G408S|ABAT_uc010bui.3_Missense_Mutation_p.G466S|ABAT_uc021tcs.1_5'Flank NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 466 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GGTGTTGGGTGGCTGTGGTGA 0.527000 6 84 0 0 1 0 0 CYP17A1 1586 broad.mit.edu 37 10 104596873 104596873 + Silent SNP G G T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr10:104596873G>T uc001kwg.3 - 0 418 c.246C>A c.(244-246)gcC>gcA p.A82A NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 82 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GCACCTCCTTGGCCAGCTGGT 0.532000 23 59 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147480098 147480098 + Missense_Mutation SNP G G C TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr5:147480098G>C uc003loy.2 + 12 1247 c.1174G>C c.(1174-1176)Gat>Cat p.D392H SPINK5_uc010jgs.1_Missense_Mutation_p.D364H|SPINK5_uc010jgr.2_Missense_Mutation_p.D373H|SPINK5_uc003low.2_Missense_Mutation_p.D392H|SPINK5_uc003lox.2_Missense_Mutation_p.D392H NM_001127698 NP_001121170 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA. 392 Kazal-like 6. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGGCCCAGATGGGAAAGT 0.483000 7 52 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197391022 197391022 + Missense_Mutation SNP C C G TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr1:197391022C>G uc001gtz.3 + 5 2273 c.2064C>G c.(2062-2064)atC>atG p.I688M CRB1_uc010poz.2_Missense_Mutation_p.I619M|CRB1_uc009wza.3_Missense_Mutation_p.I576M|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.I688M|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.I169M|CRB1_uc001gub.1_Missense_Mutation_p.I337M NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 688 EGF-like 12. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GACGCTGCATCAACTTGTGGC 0.512000 9 60 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225362566 225362566 + Splice_Site SNP C C A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr2:225362566C>A uc010fwy.1 - 12 1682 c.1629_splice c.e12-1 p.R543_splice CUL3_uc010zls.1_Splice_Site_p.R471_splice|CUL3_uc002vny.2_Splice_Site_p.R537_splice NM_003590 NP_003581 Q13618 CUL3_HUMAN Homo sapiens cullin 3 (CUL3), mRNA. 537 G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTAAGTAGAACCTTCAGTAAA 0.373000 5 48 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 914042 914042 + Silent SNP G G C TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr17:914042G>C uc002fsd.3 - 19 2273 c.2163C>G c.(2161-2163)ctC>ctG p.L721L ABR_uc002fse.3_Silent_p.L675L|ABR_uc010vqf.2_Silent_p.L172L|ABR_uc010vqg.2_Silent_p.L503L|ABR_uc002fsg.3_Silent_p.L684L|ABR_uc002fsh.1_Silent_p.L329L|ABR_uc002fsf.3_Silent_p.L258L NM_021962 NP_001153218 Q12979 ABR_HUMAN Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA. 721 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) AGTACAGCTTGAGCGTCCCGG 0.627000 9 87 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71490881 71490881 + Missense_Mutation SNP G G A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr5:71490881G>A uc003kbw.4 + 4 1940 c.1699G>A c.(1699-1701)Gag>Aag p.E567K MAP1B_uc010iyw.1_Missense_Mutation_p.E584K|MAP1B_uc010iyx.1_Missense_Mutation_p.E441K|MAP1B_uc010iyy.1_Missense_Mutation_p.E441K NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 567 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGAAACCCCTGAGGTCACAAA 0.443000 3 29 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117314617 117314617 + Nonsense_Mutation SNP C C A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr11:117314617C>A uc001prh.1 - 20 4029 c.4027G>T c.(4027-4029)Gag>Tag p.E1343* NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1283 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCAGCAGGCTCGATGGTCACC 0.617000 6 35 0 0 1 0 0 PPP1R7 5510 broad.mit.edu 37 2 242109234 242109234 + Missense_Mutation SNP C C G TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr2:242109234C>G uc002wat.1 + 8 867 c.858C>G c.(856-858)atC>atG p.I286M PPP1R7_uc010fzm.1_Missense_Mutation_p.I270M|PPP1R7_uc002wau.1_Missense_Mutation_p.I243M NM_002712 NP_002703 Q15435 PP1R7_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA. 286 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) CAAATAGAATCAAAAAGATTG 0.378000 5 43 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157874039 157874039 + Silent SNP C C T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr7:157874039C>T uc011kwa.2 - 10 1913 c.1743G>A c.(1741-1743)gtG>gtA p.V581V PTPRN2_uc003wno.3_Silent_p.V558V|PTPRN2_uc003wnp.3_Silent_p.V541V|PTPRN2_uc003wnq.3_Silent_p.V529V|PTPRN2_uc003wnr.3_Silent_p.V520V NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 558 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CATTGGCGCTCACTTTGAAGG 0.498000 4 54 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94580161 94580161 + Missense_Mutation SNP C C T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr12:94580161C>T uc001tdc.3 + 3 1600 c.1351C>T c.(1351-1353)Cgt>Tgt p.R451C NM_005761 NP_005752 O60486 PLXC1_HUMAN Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. 451 Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GAGGAGAATTCGTGTTGCAAA 0.423000 4 40 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43738724 43738724 + Silent SNP C C T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr15:43738724C>T uc001zrr.4 - 13 3014 c.2901G>A c.(2899-2901)gaG>gaA p.E967E TP53BP1_uc010udp.2_Silent_p.E962E|TP53BP1_uc001zrq.4_Silent_p.E967E|TP53BP1_uc001zrs.3_Silent_p.E962E|TP53BP1_uc010udq.1_Silent_p.E967E NM_001141980 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA. 962 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GATCATGGGTCTCCACCATGC 0.453000 Other conserved DNA damage response genes 7 86 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703764 66703764 + Missense_Mutation SNP C C A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr12:66703764C>A uc001sti.2 + 3 1084 c.1056C>A c.(1054-1056)ttC>ttA p.F352L HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript NM_033647 NP_387467 Q8NG08 HELB_HUMAN Homo sapiens helicase (DNA) B (HELB), mRNA. 352 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CCTGTGTCTTCCCTTATGACC 0.413000 21 219 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76781017 76781017 + Missense_Mutation SNP G G C TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr10:76781017G>C uc001jwn.1 + 14 3488 c.2995G>C c.(2995-2997)Gaa>Caa p.E999Q KAT6B_uc001jwm.1_Missense_Mutation_p.E707Q|KAT6B_uc001jwo.1_Missense_Mutation_p.E707Q|KAT6B_uc001jwp.1_Missense_Mutation_p.E816Q NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 999 Catalytic.|Interaction with BRPF1. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TGCAGTGTCTGAAGAAGAGCG 0.398000 5 67 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64779995 64779995 + Missense_Mutation SNP G G A TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr2:64779995G>A uc002sdc.3 + 0 1419 c.1387G>A c.(1387-1389)Gag>Aag p.E463K AFTPH_uc002scz.3_Missense_Mutation_p.E463K|AFTPH_uc002sda.3_Missense_Mutation_p.E463K|AFTPH_uc002sdb.3_Missense_Mutation_p.E463K NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 463 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CACTTTTGAAGAGTCTTCAGA 0.408000 15 114 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47783622 47783622 + Missense_Mutation SNP G G C TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr17:47783622G>C uc002iph.1 - 2 370 c.283C>G c.(283-285)Ctg>Gtg p.L95V SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.L95V NM_005827 NP_005818 P78383 S35B1_HUMAN Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA. 95 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 ATGGCACCCAGATAGGAGATA 0.473000 6 23 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63401895 63401895 + Missense_Mutation SNP C C G TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr2:63401895C>G uc002sch.3 - 14 2450 c.1988G>C c.(1987-1989)gGa>gCa p.G663A WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.G504A|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.G471A NM_015910 NP_056994 O95876 FRITZ_HUMAN Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA. 663 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 TGAGTCTTCTCCTTGAGGTGC 0.418000 8 72 0 0 1 0 0 ASPDH 554235 broad.mit.edu 37 19 51015780 51015780 + Missense_Mutation SNP C C T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr19:51015780C>T uc010enz.3 - 4 552 c.490G>A c.(490-492)Gct>Act p.A164T JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.4_Missense_Mutation_p.A59T NM_001114598 NP_001108070 A6ND91 ASPD_HUMAN Homo sapiens aspartate dehydrogenase domain containing (ASPDH), transcript variant 1, mRNA. 164 NAD biosynthetic process|NADP catabolic process NADP binding|aspartate dehydrogenase activity endometrium(1)|large_intestine(1)|lung(1) 3 TGGGCTGCAGCCAGGGGTCCC 0.657000 3 12 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32274215 32274215 + Silent SNP A A G TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr5:32274215A>G uc003jhq.3 - 2 326 c.156T>C c.(154-156)ctT>ctC p.L52L MTMR12_uc010iuk.3_Silent_p.L52L|MTMR12_uc010iul.3_Silent_p.L52L NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 52 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGGCTTCACAAAGCAGCTGTT 0.468000 27 62 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64780025 64780025 + Nonsense_Mutation SNP G G T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr2:64780025G>T uc002sdc.3 + 0 1449 c.1417G>T c.(1417-1419)Gaa>Taa p.E473* AFTPH_uc002scz.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sda.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sdb.3_Nonsense_Mutation_p.E473* NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 473 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 ACATTTTAGTGAACCAGGTGA 0.403000 7 119 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134518626 134518626 + Splice_Site SNP C C T TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr9:134518626C>T uc022bos.1 - 4 656 c.497_splice c.e4+1 p.S166_splice RAPGEF1_uc022bot.1_Splice_Site_p.S148_splice|RAPGEF1_uc022bou.1_Splice_Site_p.S153_splice|RAPGEF1_uc022bov.1_Splice_Site_p.S153_splice NM_198679 NP_941372 Q13905 RPGF1_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA. 148 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) AGCCACTCACCTGTGCTGAAT 0.507000 5 9 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A4V4-01A-11D-A257-08 TCGA-DJ-A4V4-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dc7bb44-4efa-46a6-a330-4a4ffd67eff2 498facec-bf42-4070-8777-3a389b151ec8 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 17 50 0 0 1 0 0