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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OSMR	9180	broad.mit.edu	37	5	38932056	38932056	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:38932056A>G	uc003jln.2	+	15	2686	c.2284A>G	c.(2284-2286)Aaa>Gaa	p.K762E	OSMR_uc011cpj.2_Intron	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	762					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.L761L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTGCTACTTGAAAAGTCAGTG	0.388000														45			4		0	0	0.000602	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														19			4		0	0	0.009096	0	0
AK309922	0	broad.mit.edu	37	10	49313245	49313245	+	RNA	SNP	C	T	T	rs2270911		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr10:49313245C>T	uc009xny.1	-	2		c.471G>A								Homo sapiens cDNA, FLJ99963.																		GCAGCCTCCTCATCCTCACTG	0.488000														39			4		0	0	0.001168	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484520	60484520	+	Missense_Mutation	SNP	C	T	T	rs115042128	byFrequency	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:60484520C>T	uc010wpc.2	+	9	1041	c.970C>T	c.(970-972)Cct>Tct	p.P324S	EFCAB3_uc002izu.2_Missense_Mutation_p.P272S	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	272							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATAAAGGAGCCTTTGCATTT	0.348000														37			9		0	0	0.004482	0	0
ANXA3	306	broad.mit.edu	37	4	79531254	79531254	+	Silent	SNP	T	C	C			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr4:79531254T>C	uc003hld.3	+	12	1267	c.957T>C	c.(955-957)tgT>tgC	p.C319C		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	319					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TAAAAATCTGTGGTGGAGATG	0.378000														20			3		0	0	0.004672	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857512	9857512	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr16:9857512C>T	uc010uym.2	-	13	4199	c.3889G>A	c.(3889-3891)Gac>Aac	p.D1297N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1297N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1297					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTAGGTTTGTCGACAATGTTA	0.507000														58			9		0	0	0.006214	0	0
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:47256422C>T	uc001neb.2	+	5	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Missense_Mutation_p.R209C|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					23			10		0	0	0.008291	0	0
AATK	9625	broad.mit.edu	37	17	79094025	79094025	+	Silent	SNP	G	A	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:79094025G>A	uc010dia.3	-	10	3791	c.3711C>T	c.(3709-3711)gaC>gaT	p.D1237D	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Silent_p.D1134D	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1237						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGACGGTGACGTCGTCGAAGA	0.697000														36			16		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9082732	9082732	+	Missense_Mutation	SNP	C	A	A	rs139519759	by1000genomes	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:9082732C>A	uc002mkp.3	-	0	9287	c.9083G>T	c.(9082-9084)aGt>aTt	p.S3028I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3029	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGAGGAACTAGAACCAGA	0.488000														30			22		5.26018e-13	5.84464e-13	0.012319	1	0
ARID1A	8289	broad.mit.edu	37	1	27057668	27057668	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr1:27057668C>T	uc001bmv.1	+	2	1749	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ARID1A_uc001bmt.1_Missense_Mutation_p.P459L|ARID1A_uc001bmu.1_Missense_Mutation_p.P459L|ARID1A_uc001bmw.1_Missense_Mutation_p.P76L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	459					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACAAGGCCCCAGCGGGTAT	0.502000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									49			56		0	0	0.014410	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	A	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000														46			6		0	0	0.001984	0	0
SYNJ2	8871	broad.mit.edu	37	6	158507947	158507947	+	Missense_Mutation	SNP	G	A	A	rs141300011		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr6:158507947G>A	uc003qqx.2	+	22	3375	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	SYNJ2_uc003qqw.2_Missense_Mutation_p.R1090H|SYNJ2_uc003qqy.2_Missense_Mutation_p.R853H|SYNJ2_uc003qqz.2_Missense_Mutation_p.R707H|SYNJ2_uc003qra.2_Missense_Mutation_p.R433H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1090							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCGCCACCGTTCTCCGAGC	0.642000														34			9		0	0	0.006214	0	0
SFXN5	94097	broad.mit.edu	37	2	73172179	73172179	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr2:73172179C>T	uc002siq.3	-	13	1126	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	SFXN5_uc002sip.3_Non-coding_Transcript|SFXN5_uc002sio.3_Missense_Mutation_p.R224Q|SFXN5_uc010yrc.2_Missense_Mutation_p.R181Q|SFXN5_uc010fet.3_3'UTR|SFXN5_uc010fer.3_Non-coding_Transcript|SFXN5_uc010feq.3_Missense_Mutation_p.R114Q|SFXN5_uc010fes.3_3'UTR	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	332					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CACCACTGTCCGGCTGCTCGT	0.602000														13			6		0	0	0.001984	0	0
RPSA	3921	broad.mit.edu	37	19	24010448	24010448	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:24010448C>T	uc002nrn.3	+	3	908	c.485C>T	c.(484-486)cCa>cTa	p.P162L		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	162	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATTGCCATCCCATGCAACAAC	0.542000														24			4		0	0	0.009096	0	0
STK31	56164	broad.mit.edu	37	7	23826191	23826191	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr7:23826191C>A	uc003sws.4	+	18	2406	c.2339C>A	c.(2338-2340)gCt>gAt	p.A780D	STK31_uc003swt.4_Missense_Mutation_p.A757D|STK31_uc011jze.2_Missense_Mutation_p.A780D|STK31_uc010kuq.3_Missense_Mutation_p.A757D|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	780	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TACCATAGAGCTTGGAGAGAA	0.423000														39			3		0.004672	0.00500571	0.004672	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									31			12		0	0	0.002450	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709265	128709265	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:128709265G>A	uc001qeo.1	-	1	982	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	KCNJ1_uc001qep.1_Missense_Mutation_p.R292W|KCNJ1_uc001qeq.1_Missense_Mutation_p.R292W|KCNJ1_uc001qer.1_Missense_Mutation_p.R292W|KCNJ1_uc001qes.1_Missense_Mutation_p.R292W|KCNJ1_uc021qsb.1_Missense_Mutation_p.R292W	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGGATGTCCGGACTTGGCAG	0.498000														40			4		0	0	0.009096	0	0
L32131	0	broad.mit.edu	37	17	58512765	58512765	+	RNA	SNP	C	G	G			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:58512765C>G	uc002iyr.1	-	0		c.593G>C								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GGCTTTATCTCCTTTAGCATC	0.567000														4			8		0	0	0.003080	0	0
MN1	4330	broad.mit.edu	37	22	28194930	28194930	+	Silent	SNP	C	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr22:28194930C>T	uc003adj.3	-	0	2557	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	534	Poly-Gln.						binding	p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgttgctgct	0.647000			T	ETV6	"""AML, meningioma"""									2			3		0	0	0.009096	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	C	C	rs1062001		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000														8			3		0	0	0.004672	0	0
COL6A6	131873	broad.mit.edu	37	3	130287370	130287371	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr3:130287370_130287371insT	uc010htl.3	+	4	2354_2355	c.2323_2324insT	c.(2323-2325)gttfs	p.V775fs		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCCGAGATGGTTTTTTATGTT	0.470													---	39	---	---	9	---					
RNF44	22838	broad.mit.edu	37	5	175957618	175957618	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:175957618delG	uc003mek.1	-	5	1291	c.766delC	c.(766-768)cacfs	p.H256fs	RNF44_uc011dfo.1_Frame_Shift_Del_p.H164fs|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	256	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGATCGTGGGGCAGGTAG	0.706													---	4	---	---	2	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	-	-	rs142343457	byFrequency	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr8:28209226_28209228delGCA	uc003xgq.3	-	6	1105_1107	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													---	122	---	---	8	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													---	4	---	---	2	---					
AGBL1	123624	broad.mit.edu	37	15	87097705	87097705	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr15:87097705delG	uc002blz.1	+	19	2873	c.2793delG	c.(2791-2793)atgfs	p.M931fs		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	931					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.M931T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGAGAGATGGGGGTGTCCA	0.547													---	4	---	---	2	---					
CIC	23152	broad.mit.edu	37	19	42791822	42791824	+	In_Frame_Del	DEL	GTG	-	-			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:42791822_42791824delGTG	uc002otf.1	+	4	748_750	c.708_710delGTG	c.(706-711)gagtgg>gag	p.W238del		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGGGCGAGTGGTGGTATGCC	0.611			"""Mis, F, S"""		oligodendroglioma								---	48	---	---	11	---					
