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
CCDC135	84229	broad.mit.edu	37	16	57761287	57761287	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:57761287G>A	ENST00000360716.3	+	16	2383	c.2162G>A	c.(2161-2163)cGg>cAg	p.R721Q	CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q|CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	721						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACACCAAGCGGAATGAGAAG	0.567000													4	184					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39840263	39840263	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:39840263G>A	ENST00000502986.2	+	5	689	c.447G>A	c.(445-447)acG>acA	p.T149T	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Silent_p.T136T|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	136					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TGGTGCTGACGAACTGGACCA	0.468000													12	20					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428000													5	282					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448000													5	551					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186120454	186120454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:186120454A>T	ENST00000271588.4	+	94	14960	c.14731A>T	c.(14731-14733)Aaa>Taa	p.K4911*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4911	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATACGTGCCAAAATTACCAA	0.313000													40	102					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	865871	865871	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:865871G>A	ENST00000381922.3	-	4	787	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	229					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGCTCTGGCGGCTCAGCGTG	0.672000													7	14					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125603405	125603405	+	Silent	SNP	T	T	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:125603405T>G	ENST00000518547.1	-	4	753	c.280A>C	c.(280-282)Agg>Cgg	p.R94R	MTSS1_ENST00000325064.5_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Silent_p.R94R	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	94	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAACTGCCTCAGCTTGGCT	0.512000													15	176					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	328					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17522639	17522639	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:17522639A>C	ENST00000005226.7	-	23	2338	c.2339T>G	c.(2338-2340)gTc>gGc	p.V780G	USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000318024.4_Missense_Mutation_p.V480G|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	480					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCAGAAACGACCACCTTCCC	0.592000													6	35					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													8	58					0	0	1	0	0
IKBKE	0	broad.mit.edu	37	1	206650062	206650062	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:206650062G>A	ENST00000367120.3	+	7	955	c.582G>A	c.(580-582)caG>caA	p.Q194Q	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Silent_p.Q109Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	194	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAAAGCCCCAGCAAAAAGCGT	0.612000													4	82					0	0	1	0	0
GRIA4	0	broad.mit.edu	37	11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:105769151A>G	ENST00000393127.2	+	7	1329	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					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)	GACTCCTCCAAAGGTATTTGT	0.313000													23	135					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42620362	42620362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42620362G>A	ENST00000372901.1	+	25	3006	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*	UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*|UBR2_ENST00000372899.1_Nonsense_Mutation_p.W916*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	916					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATATGCCTGGTCAGAGTCCA	0.368000													6	248					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65787824	65787824	+	Silent	SNP	C	C	T	rs141309763		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65787824C>T	ENST00000312106.5	-	8	2165	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	676					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAACAGCGCCGTCTGGAAGC	0.627000													4	257					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756203	10756203	+	Silent	SNP	G	G	A	rs150672872		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:10756203G>A	ENST00000416569.2	-	3	1211	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C	XKR6_ENST00000304437.2_Silent_p.C116C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	395						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGGCCATGGCGCACCAGTGAA	0.512000													17	98					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328000													6	46					0.0215528	0.021848	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412807	105412807	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr14:105412807C>T	ENST00000333244.5	-	7	9100	c.8981G>A	c.(8980-8982)gGc>gAc	p.G2994D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2994						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATGGACTTGCCTGGGGCAGA	0.592000													7	914					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723148	48723148	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:48723148C>T	ENST00000335017.1	+	1	386	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ATGGCTGAGGCGCCTGGGCCC	0.657000													4	37					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21199494	21199494	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr18:21199494C>T	ENST00000592179.1	-	7	782		c.e7+1		ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000322980.9_Splice_Site|ANKRD29_ENST00000284207.7_Splice_Site	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29											breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGGCACTCACGTTCCGCGCA	0.687000													6	22					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142989399	142989399	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:142989399G>T	ENST00000310447.5	+	3	473	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	CASP2_ENST00000392925.2_Missense_Mutation_p.V78L|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	78	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTAGGCCAAAGTGGGCAGTTT	0.443000													11	137					4.3838e-07	4.70147e-07	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587000													4	109					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186445048	186445048	+	Missense_Mutation	SNP	G	G	A	rs144123648		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:186445048G>A	ENST00000265023.4	+	5	799	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	196	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGAACTTTCGAATTACCTAC	0.368000													8	141					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:179542881G>A	ENST00000589042.1	-	145	34189	c.33965C>T	c.(33964-33966)cCg>cTg	p.P11322L	TTN_ENST00000591111.1_Missense_Mutation_p.P11005L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11005	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10078L(1)		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)			CACTTTTTTCGGAACAGGTGT	0.358000													29	146					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301717	11301717	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:11301717C>A	ENST00000284486.4	-	2	742	c.204G>T	c.(202-204)caG>caT	p.Q68H	FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H|FAM167A_ENST00000528897.1_Missense_Mutation_p.Q68H	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	68										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CCAAGCTCGCCTGTGGCTCCG	0.692000													4	124					1	1	1	1	0
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572000													4	168					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572000													7	894					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45757767	45757767	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr22:45757767A>G	ENST00000357450.4	-	17	2659	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	887					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGAGTTTGAACTTTCTCGGC	0.418000													19	332					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													5	221					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50526124	50526124	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr15:50526124G>A	ENST00000267842.5	+	9	1847	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	539					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGAATTTGATGGAAAGAAACT	0.378000													23	123					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117240942	117240942	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:117240942C>T	ENST00000362057.3	-	2	896	c.728G>A	c.(727-729)aGc>aAc	p.S243N	DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	243					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGAGATGCTGCGGCCCTG	0.677000													7	34					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								66	122					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918782	43918782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:43918782C>T	ENST00000261488.6	-	9	1505	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T|ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	310					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGCTGTTGGCCGACTGCACC	0.488000													5	258					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522390	144522390	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144522390G>T	ENST00000262577.5	-	11	2667	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			aggggatgaggaggaggagga	0.657000													3	23					0.004672	0.00480178	1	1	0
LGALS4	3960	broad.mit.edu	37	19	39299489	39299489	+	Silent	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:39299489C>T	ENST00000307751.4	-	3	711	c.234G>A	c.(232-234)acG>acA	p.T78T	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCTGCAACGTGTTGAAGA	0.582000													6	143					0	0	1	0	0
NRSN2	80023	broad.mit.edu	37	20	330364	330364	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:330364G>A	ENST00000382291.3	+	3	317	c.77G>A	c.(76-78)cGc>cAc	p.R26H	NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	26						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TATGGGGTCCGCTCCTACCTG	0.662000													20	120					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	97					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46568977	46568977	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:46568977C>T	ENST00000395905.3	-	7	1260	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	290										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)		TCCCCACTGACGACTAACAGA	0.483000													51	89					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114215354	114215354	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:114215354G>A	ENST00000369615.1	+	18	3098	c.3036G>A	c.(3034-3036)cgG>cgA	p.R1012R	MAGI3_ENST00000369611.4_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000307546.9_Silent_p.R1012R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1037					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGCAGTCGGCACAATCAGG	0.423000													5	418					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128344776	128344776	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:128344776G>A	ENST00000296255.3	-	7	1264	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	RPN1_ENST00000497289.1_Missense_Mutation_p.R234C	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	406					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ATCACAGGGCGGCCAAATGTG	0.478000			T	EVI1	AML								55	81					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													3	53					0.004672	0.00480178	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44571716	44571716	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:44571716G>A	ENST00000289547.4	-	9	2565	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	837					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGAAGGGGGCATAAGCCTT	0.647000													4	140					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46919668	46919668	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:46919668C>T	ENST00000429979.1	-	13	2303	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D410N|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D500N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D567N|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D432N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D410N	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	567										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CTGACCAGGTCCTCAAGGGAG	0.532000													5	25					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830854	61830854	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:61830854G>A	ENST00000280772.1	-	37	9976	c.9785C>T	c.(9784-9786)gCg>gTg	p.A3262V	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3262					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCTGGTCCGCATCCAGTGG	0.438000													6	405					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691228	35691228	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr5:35691228G>T	ENST00000440995.2	+	11	1614	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.R538S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	538					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTCACAGGCTAGCTGAAA	0.413000													9	200					7.48243e-07	7.91e-07	1	1	0
TSEN2	80746	broad.mit.edu	37	3	12544759	12544759	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:12544759A>G	ENST00000444864.1	+	5	695		c.e5-1		TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000284995.6_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGTCTTGCAGGTATCAGCA	0.433000													5	133					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406702	144406702	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144406702G>C	ENST00000523676.1	-	7	880	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q257E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	257					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ATGGAGTTCTGAACGCTCTCG	0.627000													23	201					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3824266	3824266	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:3824266T>C	ENST00000497571.1	-	2	503	c.243A>G	c.(241-243)atA>atG	p.I81M	KLF6_ENST00000542957.1_Missense_Mutation_p.I81M|KLF6_ENST00000469435.1_Missense_Mutation_p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	81					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACTGGAAGATATCTTCAGTT	0.468000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	320					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46281698	46281698	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:46281698C>T	ENST00000372004.3	+	22	4349	c.4133C>T	c.(4132-4134)gCc>gTc	p.A1378V	NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1382V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1382					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGCAGTTTGCCCACCAGGGG	0.478000													4	240					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17379702	17379702	+	Silent	SNP	A	A	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:17379702A>T	ENST00000242057.4	+	10	2896	c.2253A>T	c.(2251-2253)ggA>ggT	p.G751G		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	751					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAAAGCATGGATTAAATCCAC	0.463000													44	232					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725788	30725788	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:30725788G>A	ENST00000361762.2	+	1	3752	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	915					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TATGAAGCCGGCAAAAAAGAT	0.388000													4	196					0	0	1	0	0
GRIN2A	0	broad.mit.edu	37	16	9858072	9858072	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:9858072G>A	ENST00000396573.2	-	14	3638	c.3329C>T	c.(3328-3330)tCa>tTa	p.S1110L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1110					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|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)	AGGGGAGCTTGATTTGGTTTT	0.478000													34	212					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49179537	49179537	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:49179537T>C	ENST00000340334.7	-	15	1822	c.1454A>G	c.(1453-1455)aAa>aGa	p.K485R	FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K500R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	500	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGAAGGACTTTTTTTAGTCCA	0.353000													25	167					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12779671	12779671	+	Silent	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:12779671C>T	ENST00000359318.5	+	2	397	c.192C>T	c.(190-192)ggC>ggT	p.G64G	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	64							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACGGTGGCGGGGGCGTCA	0.537000													4	161					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555653	35555653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:35555653G>A	ENST00000455600.1	+	3	3180	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	871						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGAGCCTGGCCCGGGGAGG	0.627000													13	73					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832831	42832831	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42832831C>G	ENST00000314073.5	+	13	3063	c.2887C>G	c.(2887-2889)Cac>Gac	p.H963D	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H963D					GLTSCR1-like																		AGCAGATTCGCACTTGGAGAT	0.498000													10	101					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	580702	580702	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:580702G>A	ENST00000333511.3	+	5	782	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T|BSG_ENST00000346916.4_Missense_Mutation_p.A58T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	238	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAGACGGCCATGCTGGT	0.602000													14	107					0	0	1	0	0
RP11-296I10.6	0	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388000													3	28					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76429413	76429413	+	Missense_Mutation	SNP	G	G	A	rs144929980	by1000genomes	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:76429413G>A	ENST00000341547.4	+	28	5093	c.3833G>A	c.(3832-3834)cGc>cAc	p.R1278H	LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000321797.8_Missense_Mutation_p.R1327H|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000377534.3_Intron	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	1612						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTGGGAAGCGCATATGCTCC	0.453000													5	97					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219529149	219529149	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:219529149A>C	ENST00000295704.2	-	10	1351	c.911T>G	c.(910-912)tTg>tGg	p.L304W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	304					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTGGCAAAGTGGATTG	0.547000													26	166					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111743020	111743020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:111743020C>T	ENST00000357640.4	-	1	291	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	DENND2D_ENST00000369752.5_Intron|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	21										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTGACCTGCTCGGAGTTGAAG	0.552000													9	14					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			47	7					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18896653	18896653	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:18896653C>T	ENST00000542601.2	-	13	1788	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	COMP_ENST00000222271.2_Missense_Mutation_p.V500M|COMP_ENST00000425807.1_Missense_Mutation_p.V447M			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	500					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACGTCGCCCACGCCGTCCCCT	0.672000													35	94					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371819	76371819	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:76371819G>A	ENST00000407242.2	-	3	1060	c.818C>T	c.(817-819)tCc>tTc	p.S273F	LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	273						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTTGTTGGACAAGTTCAG	0.642000													19	112					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120574422	120574422	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:120574422C>T	ENST00000300648.6	-	51	6904	c.6892G>A	c.(6892-6894)Gcc>Acc	p.A2298T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2298				A -> V (in Ref. 7; AAC51648).	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTCAGGGCGTCAGCCGAG	0.622000													32	70					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					cell communication|protein transport		phosphatidylinositol binding	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632000											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	293					0	0	1	0	0
LILRB2	0	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													8	253	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76918997	76918998	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chrX:76918997_76918998insA	ENST00000373344.5	-	12	4207_4208	c.3993_3994insT	c.(3991-3996)tcagaafs	p.E1332fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.E1294fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1332					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTGGCTTCTTAGATTCTTCAG	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						56	13	---	---	---	---