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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
MALAT1	0	broad.mit.edu	37	11	65268212	65268213	+	RNA	INS	-	-	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:65268212_65268213insC	ENST00000534336.1	+	0	2980_2981					NR_002819.2					NA											NA						GTGTGCCAAGGCCACAGGGAAA	0.485		NA											False	2	False	11:65268212	0
BTG1	694	broad.mit.edu	37	12	92537928	92537929	+	Frame_Shift_Ins	INS	-	-	CTGATTCGGCTGC			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:92537928_92537929insCTGATTCGGCTGC	ENST00000256015.3	-	2	804_805	c.443_444insGCAGCCGAATCAG	c.(442-444)agcfs	p.S148fs		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	148					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCTCCTTACAGCTGATTCGGCT	0.465		NA	T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:92537928	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
DNM1P46	0	broad.mit.edu	37	15	100340192	100340193	+	RNA	INS	-	-	GCAGGTTGGACAG			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr15:100340192_100340193insGCAGGTTGGACAG	ENST00000341853.1	-	0	733_734					NR_003260.1					NA											NA						CCCACGCGAGTCTCGTCGCGCC	0.629		NA											False	0	False	15:100340192	0
BRD7	29117	broad.mit.edu	37	16	50368806	50368807	+	Splice_Site	INS	-	-	CTGG			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:50368806_50368807insCTGG	ENST00000394688.3	-	7	862	c.703_703insCCAG	c.(703-705)gaa>CCAGgaa	p.E235fs	BRD7_ENST00000394689.2_Splice_Site_p.E235fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	235					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGAATTCTTTCCTAAACATATT	0.371		NA											False	0	False	16:50368806	0
MGME1	92667	broad.mit.edu	37	20	17956442	17956442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:17956442delC	ENST00000377710.5	+	3	915	c.627delC	c.(625-627)gtcfs	p.V209fs	MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377709.1_Frame_Shift_Del_p.V129fs|MGME1_ENST00000377704.4_Intron	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1	NA											NA						TTGAAAGTGTCCAGCATATTC	0.438		NA											False	2	False	20:17956442	0
CST1	1469	broad.mit.edu	37	20	23729740	23729742	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:23729740_23729742delGAA	ENST00000304749.2	-	2	323_325	c.253_255delTTC	c.(253-255)ttcdel	p.F85del	CST1_ENST00000398402.1_In_Frame_Del_p.F85del	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	85						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CCTCTACGTCGAAGAAGTAATTC	0.547		NA											False	2	False	20:23729740	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
PABPC1	26986	broad.mit.edu	37	8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	NA					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426		NA											False	1	True	8:101719035	0
NOL8	55035	broad.mit.edu	37	9	95077918	95077940	+	Frame_Shift_Del	DEL	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	-			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	-	-	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:95077918_95077940delTCAGATTCATTTATTGAGGGTTG	ENST00000535387.1	-	6	966_988	c.967_989delCAACCCTCAATAAATGAATCTGA	c.(967-990)caaccctcaataaatgaatctgaafs	p.QPSINESE323fs	NOL8_ENST00000358855.4_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.QPSINESE323fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.QPSINESE323fs			Q76FK4	NOL8_HUMAN	nucleolar protein 8	323					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.S325L(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AGGATCACTTTCAGATTCATTTATTGAGGGTTGTGTAGTTCTC	0.359		NA											False	1	True	9:95077918	0
TTN	7273	broad.mit.edu	37	2	179428962	179428962	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179428962G>A	ENST00000589042.1	-	326	82121	c.81897C>T	c.(81895-81897)atC>atT	p.I27299I	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.I25658I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25658							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGCCACGGATGTCGGCTT	0.378		NA											False	0	False	2:179428962	0
GNA13	10672	broad.mit.edu	37	17	63052667	63052667	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:63052667G>A	ENST00000439174.2	-	1	290	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	15					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GGCAGCCGGGGAAGCACACGG	0.682		NA											False	0	True	17:63052667	0
DST	667	broad.mit.edu	37	6	56497706	56497706	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:56497706C>T	ENST00000370754.5	-	27	3651	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K	DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000361203.3_Missense_Mutation_p.E1040K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K			Q03001	DYST_HUMAN	dystonin	1040					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTAACCTCCTTTTCCAGT	0.378		NA											False	0	False	6:56497706	0
C4A	720	broad.mit.edu	37	6	31964233	31964233	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:31964233T>C	ENST00000428956.2	+	28	3616	c.3532T>C	c.(3532-3534)Ttt>Ctt	p.F1178L	C4A_ENST00000498271.1_Missense_Mutation_p.F1178L	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)	NA											NA						GGCAAACTCATTTTTGGGGGA	0.607		NA											False	0	True	6:31964233	0
PTCD1	26024	broad.mit.edu	37	7	99057763	99057763	+	Missense_Mutation	SNP	A	A	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr7:99057763A>T	ENST00000555673.1	-	2	89	c.67T>A	c.(67-69)Tgg>Agg	p.W23R	ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2_ENST00000292475.3_Missense_Mutation_p.W29R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000437572.1_Intron	NM_001198879.1	NP_001185808.1			pentatricopeptide repeat domain 1	NA										endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATCAAGATCCAGCTTGGCAGC	0.473		NA											False	0	False	7:99057763	0
ME2	4200	broad.mit.edu	37	18	48447459	48447459	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447459G>A	ENST00000321341.5	+	10	1230	c.958G>A	c.(958-960)Gca>Aca	p.A320T	ME2_ENST00000382927.3_Missense_Mutation_p.A320T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	320					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TCTTGGAATTGCAAATCTTAT	0.313		NA											False	0	False	18:48447459	0
FPR1	2357	broad.mit.edu	37	19	52249834	52249834	+	Silent	SNP	G	G	A	rs151277630	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:52249834G>A	ENST00000595042.1	-	3	555	c.414C>T	c.(412-414)acC>acT	p.T138T	FPR1_ENST00000304748.4_Silent_p.T138T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	138					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGGCTCACGGTGCGGTGGT	0.547		NA											False	0	True	19:52249834	0
SDK2	54549	broad.mit.edu	37	17	71390417	71390417	+	Silent	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:71390417G>T	ENST00000392650.3	-	26	3639	c.3639C>A	c.(3637-3639)tcC>tcA	p.S1213S	SDK2_ENST00000388726.3_Silent_p.S1213S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1213	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCATGCTGCTGGAGGTGGTGG	0.642		NA											False	0	False	17:71390417	0
CC2D1A	54862	broad.mit.edu	37	19	14034184	14034184	+	Silent	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:14034184G>T	ENST00000318003.7	+	15	1921	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	CC2D1A_ENST00000589606.1_Silent_p.L560L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	560					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACTTTGCCCTGGTCCAGCGGC	0.687		NA											False	0	False	19:14034184	0
ADAMTS13	11093	broad.mit.edu	37	9	136298550	136298550	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:136298550C>T	ENST00000371929.3	+	10	1589	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	382	Disintegrin.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCATAGCAGCAGTGCATGGG	0.652		NA											False	0	False	9:136298550	0
PRSS54	221191	broad.mit.edu	37	16	58324907	58324907	+	Silent	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:58324907C>A	ENST00000219301.4	-	4	613	c.219G>T	c.(217-219)ctG>ctT	p.L73L	PRSS54_ENST00000567164.1_Silent_p.L73L|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAACTCGCTCAGGATGCAGC	0.647		NA											False	0	False	16:58324907	0
KMT2D	8085	broad.mit.edu	37	12	49427679	49427679	+	Silent	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:49427679C>T	ENST00000301067.7	-	39	10808	c.10809G>A	c.(10807-10809)caG>caA	p.Q3603Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA								p.Q3603Q(1)|p.Q3333Q(1)			NA						gctgctgctgctgttgttgct	0.582		NA											False	0	True	12:49427679	0
MPDZ	8777	broad.mit.edu	37	9	13168481	13168481	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:13168481G>A	ENST00000319217.7	-	22	3385	c.3138C>T	c.(3136-3138)ggC>ggT	p.G1046G	MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1046	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCAATCCGGCCATCTCGAC	0.448		NA											False	0	False	9:13168481	0
ANO8	57719	broad.mit.edu	37	19	17436170	17436170	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:17436170C>T	ENST00000159087.4	-	17	2845	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	896						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTGCTGGTAGCGATGCTGGGC	0.647		NA											False	0	False	19:17436170	0
FZD8	8325	broad.mit.edu	37	10	35930018	35930018	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:35930018C>T	ENST00000374694.1	-	1	344	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	114	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGGCCTTGGCGCGCTCGCAC	0.682		NA											False	0	True	10:35930018	0
PCDHB18	0	broad.mit.edu	37	5	140615657	140615657	+	RNA	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr5:140615657G>A	ENST00000526308.1	+	0	1720					NR_001281.1					NA										endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCGGACAACGGCCACCTATT	0.677		NA											False	0	False	5:140615657	0
DCAF12L1	139170	broad.mit.edu	37	X	125686333	125686333	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:125686333G>A	ENST00000371126.1	-	1	501	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	87										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGCTCCGTCAGCAGCTCGGGC	0.657		NA											False	0	False	X:125686333	0
OR5P3	120066	broad.mit.edu	37	11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	rs117218570	by1000genomes	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557		NA											False	0	False	11:7847156	0
GRIA4	0	broad.mit.edu	37	11	105795458	105795458	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:105795458G>T	ENST00000393127.2	+	12	2256	c.1810G>T	c.(1810-1812)Ggt>Tgt	p.G604C	GRIA4_ENST00000530497.1_Missense_Mutation_p.G604C|GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C|GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	604					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GTTTTCCCTGGGTGCTTTTAT	0.453		NA											False	0	True	11:105795458	0
RPUSD4	84881	broad.mit.edu	37	11	126075456	126075456	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:126075456G>A	ENST00000298317.4	-	5	756	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RPUSD4_ENST00000533628.1_Intron	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	235					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGCTGCGCCGCACTTTCACC	0.552		NA											False	0	False	11:126075456	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367721	184367721	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:184367721C>T	ENST00000504169.1	+	3	1091	c.884C>T	c.(883-885)tCc>tTc	p.S295F	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	295	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTGTTGGGCTCCTCAGGAAGC	0.468		NA											False	0	False	4:184367721	0
PRKCD	5580	broad.mit.edu	37	3	53223943	53223943	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:53223943C>A	ENST00000394729.2	+	17	2126	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	600	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CATCAAAATCCACCCCTTCTT	0.547		NA											False	0	False	3:53223943	0
ENTPD4	9583	broad.mit.edu	37	8	23290634	23290634	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:23290634G>A	ENST00000358689.4	-	13	1891	c.1656C>T	c.(1654-1656)caC>caT	p.H552H	ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	552					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GCCAGTGGGTGTGACTGGCTC	0.577		NA											False	0	False	8:23290634	0
SPEN	23013	broad.mit.edu	37	1	16259754	16259754	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:16259754G>A	ENST00000375759.3	+	11	7223	c.7019G>A	c.(7018-7020)cGc>cAc	p.R2340H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2340	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R2340H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGATCACGCCGCAAGCGAAAC	0.512		NA											False	0	False	1:16259754	0
HTR2C	3358	broad.mit.edu	37	X	114141278	114141278	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:114141278C>T	ENST00000276198.1	+	6	1405	c.677C>T	c.(676-678)cCg>cTg	p.P226L	HTR2C_ENST00000371950.3_Silent_p.T194T|HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	226					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCTTCATACCGCTGACGATT	0.507		NA											False	0	False	X:114141278	0
FOXS1	2307	broad.mit.edu	37	20	30432696	30432696	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:30432696G>T	ENST00000375978.3	-	1	724	c.650C>A	c.(649-651)gCg>gAg	p.A217E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAAGCCAAACGCTGGGCATGA	0.617		NA											False	0	False	20:30432696	0
POTEF	728378	broad.mit.edu	37	2	130877733	130877733	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:130877733G>A	ENST00000357462.5	-	1	449	c.356C>T	c.(355-357)gCt>gTt	p.A119V	POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000409914.2_Missense_Mutation_p.A119V			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	119						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCTCCCCAAGCGCCCACCTT	0.587		NA											False	0	False	2:130877733	0
SDR9C7	121214	broad.mit.edu	37	12	57327752	57327752	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:57327752G>A	ENST00000293502.1	-	1	437	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	98						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CACCTTGTTCGCCCACTTTGT	0.542		NA											False	0	True	12:57327752	0
MAP7	9053	broad.mit.edu	37	6	136681852	136681852	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:136681852G>T	ENST00000354570.3	-	13	2196	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	MAP7_ENST00000454590.1_Missense_Mutation_p.R618S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	596					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCAGGCGCTCTTGCTCT	0.542		NA											False	0	False	6:136681852	0
TBC1D8	11138	broad.mit.edu	37	2	101666884	101666884	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101666884T>A	ENST00000409318.1	-	5	981	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E269V	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	269					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGCTCGGCTCCTGCAGATC	0.562		NA											False	0	True	2:101666884	0
BNC2	54796	broad.mit.edu	37	9	16435989	16435989	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:16435989C>T	ENST00000380672.4	-	6	2260	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	BNC2_ENST00000380666.2_Missense_Mutation_p.E735K|BNC2_ENST00000545497.1_Missense_Mutation_p.E640K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGGATTCCTCGCCCAGTTTG	0.512		NA											False	0	False	9:16435989	0
NUMA1	0	broad.mit.edu	37	11	71726747	71726747	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:71726747G>A	ENST00000393695.3	-	15	2133	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	601					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.A601V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTGAGAGCCGCATCCCGCTC	0.607		NA	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:71726747	0
CORO2A	7464	broad.mit.edu	37	9	100895437	100895437	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:100895437G>A	ENST00000343933.5	-	5	788	c.531C>T	c.(529-531)agC>agT	p.S177S	CORO2A_ENST00000375077.4_Silent_p.S177S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	177					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTTGGTGACAGCTAATCGTAC	0.547		NA											False	0	False	9:100895437	0
SLC2A7	155184	broad.mit.edu	37	1	9067394	9067394	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:9067394G>A	ENST00000400906.1	-	10	1166	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	389						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCCGCGATGTAGGCAAAGA	0.642		NA											False	0	False	1:9067394	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255452	25255452	+	Silent	SNP	C	C	G			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:25255452C>G	ENST00000328086.7	-	6	2438	c.1635G>C	c.(1633-1635)cgG>cgC	p.R545R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	545					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTTCTGGTGTCCGGAGGAAGC	0.517		NA											False	0	False	16:25255452	0
ZNF222	0	broad.mit.edu	37	19	44536890	44536890	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:44536890G>A	ENST00000187879.8	+	4	1225	c.1063G>A	c.(1063-1065)Ggt>Agt	p.G355S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TAGTAAGTCAGGTCTTGACTT	0.428		NA											False	0	False	19:44536890	0
PLEKHA5	54477	broad.mit.edu	37	12	19511180	19511180	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:19511180G>A	ENST00000538714.1	+	23	2837	c.2833G>A	c.(2833-2835)Gtg>Atg	p.V945M	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V887M	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	887							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAAGTGCAGTGGAACAGCT	0.373		NA											False	0	False	12:19511180	0
MCCC1	56922	broad.mit.edu	37	3	182733294	182733294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:182733294G>A	ENST00000492597.1	-	18	2485	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Q704*			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	704					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGTTGGCCTGAGCACCTTCT	0.443		NA											False	0	False	3:182733294	0
GPM6B	2824	broad.mit.edu	37	X	13801502	13801502	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:13801502G>A	ENST00000454189.2	-	3	457	c.330C>T	c.(328-330)ggC>ggT	p.G110G	GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000356942.5_Silent_p.G129G|GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000493677.1_Silent_p.G143G|GPM6B_ENST00000355135.2_Silent_p.G169G	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	129					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TGATGCATCGGCCACAAGCGG	0.428		NA											False	0	False	X:13801502	0
COL1A1	1277	broad.mit.edu	37	17	48273888	48273888	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:48273888C>T	ENST00000225964.5	-	13	978	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	287	Triple-helical region.		G -> S (in OI1).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGGCTCACCCTGTAGATC	0.547		NA	T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						False	0	True	17:48273888	0
GLUD2	2747	broad.mit.edu	37	X	120181966	120181966	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:120181966G>A	ENST00000328078.1	+	1	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	143					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAGCACCGCACGCCCTGC	0.567		NA											False	0	False	X:120181966	0
ACR	49	broad.mit.edu	37	22	51177896	51177896	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr22:51177896G>A	ENST00000216139.5	+	2	315	c.275G>A	c.(274-276)gGc>gAc	p.G92D	ACR_ENST00000529621.1_Missense_Mutation_p.G92D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	92	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTTCGTCGGCAAAAAGTAC	0.577		NA											False	0	False	22:51177896	0
SPTA1	6708	broad.mit.edu	37	1	158636124	158636124	+	Silent	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:158636124C>T	ENST00000368147.4	-	16	2382	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCCACAGCCGACTCCAGGA	0.502		NA											False	0	False	1:158636124	0
AKAP12	9590	broad.mit.edu	37	6	151669953	151669953	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:151669953C>A	ENST00000402676.2	+	4	667	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Missense_Mutation_p.P143T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	143				TPEI -> NRN (in Ref. 1; AAC51366).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGGAGACACCCGAAATAAT	0.438		NA											False	0	True	6:151669953	0
TMEM164	84187	broad.mit.edu	37	X	109352318	109352318	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:109352318C>A	ENST00000372073.1	+	4	787	c.451C>A	c.(451-453)Cac>Aac	p.H151N	TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	151						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCTACAGATGCACATGTTGAA	0.458		NA											False	0	False	X:109352318	0
FSTL5	56884	broad.mit.edu	37	4	162459317	162459317	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:162459317C>T	ENST00000306100.5	-	10	1749		c.e10+1		FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	NA						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTATACATACGGGTCTTTCT	0.393		NA											False	0	True	4:162459317	0
RNF149	284996	broad.mit.edu	37	2	101898332	101898332	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101898332G>A	ENST00000295317.3	-	6	1255	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	383						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TAGCAATGCCGTATTTTCTCC	0.488		NA											False	0	False	2:101898332	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
ME2	4200	broad.mit.edu	37	18	48447031	48447031	+	Splice_Site	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447031G>A	ENST00000321341.5	+	9	1117	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ME2_ENST00000382927.3_Splice_Site_p.G282E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	282					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTTCTTACAGGGACAGCTGCA	0.348		NA											False	0	True	18:48447031	0
OSBPL6	114880	broad.mit.edu	37	2	179197717	179197717	+	Silent	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179197717G>A	ENST00000190611.4	+	8	982	c.606G>A	c.(604-606)acG>acA	p.T202T	OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T|OSBPL6_ENST00000409045.3_Silent_p.T202T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	202					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCTTCAACGTCCACAGCTG	0.393		NA											False	0	False	2:179197717	0
TRNT1	51095	broad.mit.edu	37	3	3189309	3189309	+	Silent	SNP	A	A	C			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:3189309A>C	ENST00000251607.6	+	7	1080	c.978A>C	c.(976-978)atA>atC	p.I326I	TRNT1_ENST00000280591.6_Silent_p.I306I	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	326					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GCTTATTTATAGTTAAAAATA	0.328		NA											False	0	True	3:3189309	0
TUBAL3	79861	broad.mit.edu	37	10	5443000	5443000	+	Silent	SNP	G	G	A	rs148158899		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:5443000G>A	ENST00000380419.3	-	2	91	c.54C>T	c.(52-54)gaC>gaT	p.D18D	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	18					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCCAGCAGGCGTCCCCAATCT	0.483		NA											False	0	False	10:5443000	0
DGKH	160851	broad.mit.edu	37	13	42761256	42761256	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr13:42761256C>T	ENST00000261491.5	+	14	1631	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000337343.4_Missense_Mutation_p.A537V|DGKH_ENST00000379274.2_Missense_Mutation_p.A401V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGGAAAATGCCGTTGTAGCT	0.418		NA											False	0	False	13:42761256	0
SCN4A	6329	broad.mit.edu	37	17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAACTTGCCGGCAAACAGGTT	0.542		NA											False	0	False	17:62022892	0
SCFD2	152579	broad.mit.edu	37	4	53751931	53751931	+	Silent	SNP	A	A	G			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:53751931A>G	ENST00000401642.3	-	8	2078	c.1945T>C	c.(1945-1947)Ttg>Ctg	p.L649L	SCFD2_ENST00000388940.4_Silent_p.L604L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	649					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTGGCTTCAACGATGCCACA	0.547		NA											False	0	False	4:53751931	0
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	True	17:7578469	0
