Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
WNK1	65125	broad.mit.edu	37	12	980512	980512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:980512C>T	ENST00000537687.1	+	10	4103	c.3460C>T	c.(3460-3462)Cag>Tag	p.Q1154*	WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q334*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q741*|WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q741*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1239*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	899					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACATCCTCAGCAGGTGAGAAC	0.428000													6	17					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100275475	100275475	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000338687.7	-	10	1839		c.e10+1		TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site|TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)								tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGCTGTGTACCATTGAAGGC	0.488000													81	64					6.14238e-36	7.40236e-36	1	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:1651459G>T	ENST00000399676.2	+	1	427	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	130	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692000													4	29					0.217242	0.221965	1	1	0
KRT20	54474	broad.mit.edu	37	17	39041055	39041055	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:39041055C>T	ENST00000167588.3	-	1	424	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	128	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	p.R128Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTGACTTCGCAGCTCTTC	0.438000													4	31					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47886439	47886439	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:47886439G>A	ENST00000507489.1	-	15	2016	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	NFXL1_ENST00000381538.3_Missense_Mutation_p.P614S|NFXL1_ENST00000329043.3_Missense_Mutation_p.P614S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	614						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGTTCCCAAGGGCCTGTAGGC	0.358000													15	26					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154736769	154736769	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCCTTCATGTTTAAGACA	0.363000													63	125					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488000													23	22					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932374	110932374	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCAACCAACTTCATGGAGGC	0.453000													21	22					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTGCTTGCCACCAAGCCATT	0.507000													15	25					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	G	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:64498755G>C	ENST00000426828.1	+	0	18					NR_033416.1																						gcaggatggcgacggcCGTCC	0.746000													4	2					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651442	1651442	+	Silent	SNP	G	G	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:1651442G>T	ENST00000399676.2	+	1	410	c.372G>T	c.(370-372)ggG>ggT	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G124G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.692000													5	26					0.0215528	0.0230223	1	1	0
CXorf48	54967	broad.mit.edu	37	X	134305074	134305074	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:134305074C>A	ENST00000344129.2	-	1	248	c.22G>T	c.(22-24)Gct>Tct	p.A8S	CXorf48_ENST00000276241.6_Missense_Mutation_p.A8S	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	8										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AAGGCCAAAGCAAGTCTCAGA	0.627000													8	58					0.00307968	0.00336616	1	1	0
LRRC2	79442	broad.mit.edu	37	3	46586577	46586577	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:46586577T>C	ENST00000395905.3	-	3	684	c.292A>G	c.(292-294)Agc>Ggc	p.S98G	LRRC2_ENST00000296144.3_Missense_Mutation_p.S98G	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	98										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AACGCACTGCTCCGTTTGCCT	0.542000													9	214					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47951608	47951608	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:47951608G>C	ENST00000426837.2	-	10	4441	c.4354C>G	c.(4354-4356)Ctg>Gtg	p.L1452V	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.L42V			P27816	MAP4_HUMAN	microtubule-associated protein 4	832					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTGATTCCAGAACCTCTAGA	0.408000													11	44					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATGACTGCAGAAGCCTGGA	0.418000													13	13					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597000													17	3					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								23	38					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241758	3241758	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCCCCTTGCTGGTTGACAG	0.493000													28	170					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157689135	157689135	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:157689135A>T	ENST00000502773.1	-	5	1201	c.711T>A	c.(709-711)gaT>gaA	p.D237E	PDGFC_ENST00000422544.2_Missense_Mutation_p.D237E|PDGFC_ENST00000542208.1_Missense_Mutation_p.D82E|PDGFC_ENST00000541126.1_Missense_Mutation_p.D74E|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	237					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GAAGGTTCAGATCCACCACTA	0.363000													5	76					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATT	0.637000													33	32					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860845	21860845	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:21860845G>C	ENST00000399982.2	-	33	6656	c.6592C>G	c.(6592-6594)Cta>Gta	p.L2198V	CHD8_ENST00000430710.3_Missense_Mutation_p.L1919V|CHD8_ENST00000557364.1_Missense_Mutation_p.L2198V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2198					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGACTGTCTAGCAAGTGGTTG	0.547000													25	113					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119545655	119545655	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:119545655A>T	ENST00000264235.8	-	11	2225	c.1243T>A	c.(1243-1245)Tca>Aca	p.S415T	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.S428T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	415					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TTGGAAGCTGATGCAGAAGCA	0.473000													3	26					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCGAGAAGCAAGGAGAAAA	0.617000													29	30					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632000													9	8					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000535378.1	-	4	1291	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562000													33	8					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			28	5					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATGTGGGCGGCGCTGTTGAC	0.562000													23	55					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453000													20	32					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47442890	47442890	+	Translation_Start_Site	SNP	T	T	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000377018.2	+	0	222				TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1						erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622000													21	37					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53007987	53007987	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:53007987T>C	ENST00000421239.2	+	5	387	c.143T>C	c.(142-144)tTg>tCg	p.L48S		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAGAGGGCTTTGTACAGGGAA	0.488000													65	29					0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612000													35	49					2.51541e-25	2.95561e-25	1	1	0
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428000													23	40					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61577498	61577498	+	Silent	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:61577498A>G	ENST00000398571.2	-	12	1480	c.1404T>C	c.(1402-1404)atT>atC	p.I468I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	468					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACAGTGCTTTAATTAACATGG	0.333000													3	48					0	0	1	0	0
RP11-19N8.2	0	broad.mit.edu	37	16	33013807	33013807	+	RNA	SNP	G	G	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:33013807G>T	ENST00000567619.1	-	0	499																											GGTGCAGCTGGTGCAGTCTGG	0.592000													9	50					3.07112e-06	3.52055e-06	1	1	0
GPR97	222487	broad.mit.edu	37	16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552000													27	32					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17083787	17083787	+	RNA	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:17083787G>A	ENST00000455405.2	-	0	801																											GCGTGAAGACGGCTGGCCAGC	0.552000													3	16					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395647.2	+	7	646	c.605T>C	c.(604-606)aTc>aCc	p.I202T	SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|FAM83G_ENST00000388995.6_3'UTR	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637000													27	42					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308000													30	43					0	0	1	0	0
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													4	6	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150816	65150817	+	RNA	INS	-	-	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:65150816_65150817insC	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCCC	0.465													3	5	---	---	---	---					
RTN1	6252	broad.mit.edu	37	14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-	rs147040027		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)acctfs	p.TLP734fs	RTN1_ENST00000395090.1_Frame_Shift_Del_p.TLP151fs|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Frame_Shift_Del_p.TLP166fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	734	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298													20	8	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085465	11085467	+	RNA	DEL	ACT	ACT	-	rs10446208	by1000genomes	TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr21:11085465_11085467delACT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccactaccactaccaccacca	0.532													2	4	---	---	---	---