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
VCX3B	425054	broad.mit.edu	37	X	8434346	8434346	+	Silent	SNP	G	G	A	rs808146		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:8434346G>A	uc011mht.2	+	2	970	c.663G>A	c.(661-663)gaG>gaA	p.E221E	VCX3B_uc004csd.1_Splice_Site_p.E171_splice|VCX3B_uc022bsj.1_Non-coding_Transcript	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	0						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCAGGTGGAGGAACCACTGA	0.557000													6	90					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523557	23523557	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:23523557C>T	uc002zww.3	+	0	1006	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BCR_uc002zwx.3_Missense_Mutation_p.A137V	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	137	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCGGGGCAGCCGCGTCGGGG	0.801000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								3	37					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78685111	78685111	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:78685111C>T	uc003dqe.2	-	22	3393	c.3185G>A	c.(3184-3186)cGt>cAt	p.R1062H	ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Missense_Mutation_p.R1017H|ROBO1_uc003dqb.2_Missense_Mutation_p.R1023H|ROBO1_uc010hoh.2_Missense_Mutation_p.R254H|ROBO1_uc011bgl.1_Missense_Mutation_p.R634H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1062					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.R1039H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTGACAAAACGCCCATCCTT	0.473000													60	70					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105209429	105209429	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:105209429G>A	uc001ypd.3	+	9	1048	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ADSSL1_uc001ype.3_Missense_Mutation_p.R368H|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	325					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTGCAGACCCGCGGCCACGAG	0.612000													44	66					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2371168	2371168	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:2371168C>T	uc002fut.3	-	4	620	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Missense_Mutation_p.V158M|METTL16_uc010vqx.1_Intron|METTL16_uc010vqy.1_Intron	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	158							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGCACTTTCACCACTAGGAGA	0.398000													12	68					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68689027	68689027	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:68689027T>C	uc003jwo.3	+	10	1330	c.1268T>C	c.(1267-1269)tTa>tCa	p.L423S	RAD17_uc003jwg.3_Missense_Mutation_p.L412S|RAD17_uc003jwi.3_Missense_Mutation_p.L412S|RAD17_uc003jwh.3_Missense_Mutation_p.L412S|RAD17_uc003jwj.3_Missense_Mutation_p.L412S|RAD17_uc003jwk.3_Missense_Mutation_p.L412S|RAD17_uc003jwl.3_Missense_Mutation_p.L412S|RAD17_uc003jwm.3_Missense_Mutation_p.L247S|RAD17_uc003jwn.3_Missense_Mutation_p.L326S	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	423					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCCTCTCATTTATCAGAATAT	0.313000								Other conserved DNA damage response genes					13	20					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974592	16974592	+	RNA	SNP	C	C	T	rs71253919	by1000genomes	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:16974592C>T	uc010och.2	+	6		c.1052C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGCCGGAACCCCGACGGCTCA	0.667000													3	35					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661324	36661324	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:36661324A>G	uc003ape.3	+	6	764	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E	APOL1_uc011amn.1_Missense_Mutation_p.K25E|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.K25E|APOL1_uc003apf.3_Missense_Mutation_p.K148E|APOL1_uc011amp.2_Missense_Mutation_p.K148E|APOL1_uc011amq.2_Missense_Mutation_p.K130E|APOL1_uc010gwx.3_Missense_Mutation_p.K25E	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	148					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTCGGTTGAAAAGTGAGCT	0.478000													62	93					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642224	24642224	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:24642224A>G	uc001wmr.3	+	3	669	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	REC8_uc001wms.3_Missense_Mutation_p.Y81C	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	81					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCCGCGTCTATTCTCAACAA	0.617000													52	78					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417781	57417781	+	Silent	SNP	C	C	T	rs34438223	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:57417781C>T	uc001cyp.3	-	4	673	c.606G>A	c.(604-606)ccG>ccA	p.P202P	C8B_uc010oon.2_Silent_p.P140P|C8B_uc010ooo.2_Silent_p.P150P	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	202	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P202P(2)|p.P202L(1)|p.P202Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGATGTAATGCGGGGAGCATC	0.507000													5	104					0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112110475	112110475	+	Missense_Mutation	SNP	T	T	C	rs150096881		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr12:112110475T>C	uc001tsn.4	-	4	931	c.737A>G	c.(736-738)aAa>aGa	p.K246R	BRAP_uc010syh.2_Intron|BRAP_uc009zvv.3_Missense_Mutation_p.K216R	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	246					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATCTTCAGATTTGAGCACTTC	0.363000													27	46					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								28	47					0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32191948	32191948	+	RNA	SNP	G	G	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr16:32191948G>T	uc010vfv.1	-	5		c.900C>A								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TACCGCAAATGATGCTCTGGA	0.512000													7	22					8.12818e-05	8.31721e-05	1	1	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													2	6					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45144244	45144244	+	Missense_Mutation	SNP	G	G	A	rs146485929	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:45144244G>A	uc011kcd.2	-	3	882	c.833C>T	c.(832-834)gCt>gTt	p.A278V	TBRG4_uc003tmu.3_Missense_Mutation_p.A92V|TBRG4_uc003tmv.3_Missense_Mutation_p.A267V|TBRG4_uc003tmw.3_Intron|TBRG4_uc003tmx.3_Intron|SNORA5A_uc003tmy.3_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	267					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCGGCTCTGAGCTGCCAGCAT	0.612000													4	68					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													6	103					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371363	33371363	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:33371363A>C	uc002yph.3	+	10	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	671					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617000													5	122					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:11143994G>A	uc010dxp.3	+	26	3935	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_uc010dxo.3_Missense_Mutation_p.R1192H|SMARCA4_uc002mqf.4_Missense_Mutation_p.R1192H|SMARCA4_uc010dxq.3_Missense_Mutation_p.R1192H|SMARCA4_uc010dxr.3_Missense_Mutation_p.R1192H|SMARCA4_uc002mqj.4_Missense_Mutation_p.R1192H|SMARCA4_uc010dxs.3_Missense_Mutation_p.R1192H|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412H|SMARCA4_uc002mqh.4_Missense_Mutation_p.R315H|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395H	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H1191R(1)|p.R1192C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612000			"""F, N, Mis"""		NSCLC								33	70					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591417	14591417	+	Silent	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:14591417G>A	uc002myt.3	-	4	732	c.462C>T	c.(460-462)taC>taT	p.Y154Y	GIPC1_uc002myv.3_Silent_p.Y57Y|GIPC1_uc002myu.3_Silent_p.Y154Y|GIPC1_uc002myw.3_Silent_p.Y57Y|GIPC1_uc002myx.3_Silent_p.Y154Y|GIPC1_uc002myy.3_Silent_p.Y57Y	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	154	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGATGAAGGCGTAGCCAGCCC	0.657000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	60					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698887	113698887	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:113698887C>T	uc003kqo.3	+	0	872	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	139						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A138V(1)|p.A138S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGACTACGCGCTCATCTTCGG	0.597000													17	51					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89160703	89160703	+	Silent	SNP	A	A	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:89160703A>T	uc021ryf.1	-	16	2736	c.2487T>A	c.(2485-2487)ccT>ccA	p.P829P	EML5_uc021ryg.1_Silent_p.P829P|EML5_uc001xxh.1_Silent_p.P6P	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	829						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTAGTTTATCAGGCACATAGG	0.308000													2	4					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629894	7629894	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr16:7629894G>T	uc002cys.2	+	5	1374	c.386G>T	c.(385-387)cGg>cTg	p.R129L	RBFOX1_uc010buf.1_Missense_Mutation_p.R129L|RBFOX1_uc002cyr.1_Missense_Mutation_p.R128L|RBFOX1_uc002cyt.2_Missense_Mutation_p.R129L|RBFOX1_uc010uxz.1_Missense_Mutation_p.R172L|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.R129L|RBFOX1_uc010uyb.1_Missense_Mutation_p.R129L|RBFOX1_uc002cyw.2_Missense_Mutation_p.R149L|RBFOX1_uc002cyy.2_Missense_Mutation_p.R149L|RBFOX1_uc002cyx.2_Missense_Mutation_p.R149L|RBFOX1_uc010uyc.1_Missense_Mutation_p.R149L	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	129	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCAGGTTCCGGGATCCGGAC	0.542000													21	45					3.08376e-08	3.23061e-08	1	1	0
LOC646214	646214	broad.mit.edu	37	15	21937419	21937419	+	RNA	SNP	A	A	T	rs7179663	by1000genomes	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr15:21937419A>T	uc010tzj.1	-	0		c.3321T>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTATGCTCACAATAGTTCTTA	0.378000													5	90					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206243208	206243208	+	Silent	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:206243208G>A	uc001hdt.1	-	2	693	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	18						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCAGGAAGAGGGACACCACCG	0.527000													31	47					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779018	100779018	+	Silent	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:100779018G>A	uc003uxt.3	+	6	1171	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SERPINE1_uc011kkj.2_Silent_p.A326A|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCCACGTCGCGCAGGCGCTGC	0.587000													33	95					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301179	110301179	+	Silent	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr6:110301179C>T	uc011eav.2	+	2	1153	c.909C>T	c.(907-909)ttC>ttT	p.F303F	GPR6_uc011eaw.2_Silent_p.F288F|GPR6_uc003ptu.3_Silent_p.F288F|GPR6_uc021zds.1_Silent_p.F288F	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	288						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGGCACTTTCGGCGCCAGCT	0.657000													4	77					0	0	1	0	0
ARL6	84100	broad.mit.edu	37	3	97487028	97487028	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:97487028A>G	uc003drv.3	+	2	390	c.77A>G	c.(76-78)gAt>gGt	p.D26G	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.D26G|ARL6_uc010hoy.3_Missense_Mutation_p.D26G	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	26					Wnt receptor signaling pathway|cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		CTTGGGCTAGATAATAGTGGC	0.338000													9	47					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805521	222805521	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:222805521C>T	uc001hnl.3	+	4	3193	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	MIA3_uc009xea.1_Missense_Mutation_p.H898Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1062					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAACCACTGCATGAAGATAA	0.498000													16	99					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196250118	196250118	+	Splice_Site	SNP	T	T	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:196250118T>C	uc001gtd.1	-	25	2842	c.2782_splice	c.e25-1	p.M928_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.M854_splice|KCNT2_uc001gtf.1_Splice_Site_p.M904_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.3_Splice_Site_p.M904_splice|KCNT2_uc001gth.1_Splice_Site_p.M425_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	928						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGATTTTCATCTATAACACA	0.348000													9	16					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395301	139395301	+	Splice_Site	SNP	T	T	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139395301T>G	uc004chz.3	-	31	5639	c.5639_splice	c.e31-1	p.D1880_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1880					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAAGCCATCTGCAGAGGCAG	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	30					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10536939	10536939	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:10536939G>C	uc002gmq.2	-	32	4704	c.4616C>G	c.(4615-4617)gCt>gGt	p.A1539G		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1539					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGGATATCAGCCTTTTCCAG	0.527000													5	94					0	0	1	0	0
TFPT	29844	broad.mit.edu	37	19	54611508	54611508	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:54611508G>A	uc010yej.1	-	4	873	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	156					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding	p.A156A(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCATTCTCCGCATTGCCTGG	0.677000			T	TCF3	pre-B ALL								10	9					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267913	1267913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:1267913delC	uc010nyk.2	+	2	1002	c.1002delC	c.(1000-1002)ttcfs	p.F334fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	334					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCACGAGTTCCCCCAGTACG	0.692													15	29	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73114723	73114723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:73114723delG	uc002sik.2	+	0	212	c.162delG	c.(160-162)ctgfs	p.L54fs		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	54					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						AGGCCGAGCTGGGCGCCGAGC	0.771													2	4	---	---	---	---					
NEU2	4759	broad.mit.edu	37	2	233898908	233898909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:233898908_233898909insG	uc010zmn.2	+	1	284_285	c.284_285insG	c.(283-285)acgfs	p.T95fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	95							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GACGCGCAGACGGGGACCCTCT	0.619													32	157	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139399848	139399848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139399848delG	uc004chz.3	-	24	4500	c.4500delC	c.(4498-4500)ttcfs	p.F1500fs	NOTCH1_uc004cia.1_Frame_Shift_Del_p.F730fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1500					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGTCACTGAAGTACTTCC	0.617			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	21	---	---	---	---					
PIP4K2B	8396	broad.mit.edu	37	17	36936783	36936783	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:36936783delG	uc002hqs.3	-	3	910	c.429delC	c.(427-429)tacfs	p.Y143fs	PIP4K2B_uc021twj.1_Frame_Shift_Del_p.Y143fs	NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	143	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCGCCGGTCGTAGGTGGTGA	0.552													10	166	---	---	---	---					
TTC3	7267	broad.mit.edu	37	21	38568034	38568035	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:38568034_38568035insT	uc002yvz.3	+	41	5381_5382	c.5276_5277insT	c.(5275-5277)tctfs	p.S1759fs	TTC3_uc002ywa.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc002ywb.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc010gnf.3_Frame_Shift_Ins_p.S1524fs|TTC3_uc002ywc.3_Frame_Shift_Ins_p.S1449fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1759					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTTGTGACTTCTGCAAGCGACG	0.569													7	344	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	5	---	---	---	---					
