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
ITPR2	3709	broad.mit.edu	37	12	26750054	26750054	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:26750054C>A	ENST00000381340.3	-	31	4432	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1339					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACGTCTTCACCCCCATTTAT	0.413000													28	70					2.81731e-10	3.18801e-10	1	1	0
NHP2L1	4809	broad.mit.edu	37	22	42071072	42071072	+	Silent	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:42071072G>A	ENST00000401959.1	-	4	568	c.252C>T	c.(250-252)cgC>cgT	p.R84R	NHP2L1_ENST00000215956.5_Silent_p.R84R|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Silent_p.R84R|NHP2L1_ENST00000402458.1_Silent_p.R88R	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						CCTGCTTGGAGCGCACAAACA	0.572000													24	47					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	19					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67759936	67759936	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr18:67759936C>G	ENST00000255674.6	-	29	4294	c.4008G>C	c.(4006-4008)gaG>gaC	p.E1336D	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.E1336D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1336							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGCCATCATCTCATGGGATA	0.443000													3	55					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400052	13400052	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:13400052C>T	ENST00000284110.1	-	2	1480	c.683G>A	c.(682-684)cGc>cAc	p.R228H	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26H	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCGAGATGCGCGCGGGGGC	0.637000													4	114					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108698424	108698424	+	Silent	SNP	C	C	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:108698424C>A	ENST00000232603.5	-	24	2497	c.2415G>T	c.(2413-2415)tcG>tcT	p.S805S	MORC1_ENST00000483760.1_Silent_p.S784S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	805					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S805S(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAGACGCTGGCGAAGAAGCAA	0.418000													40	69					1.07121e-22	1.24492e-22	1	1	0
LUC7L3	51747	broad.mit.edu	37	17	48819020	48819020	+	Silent	SNP	C	C	A	rs150132332		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:48819020C>A	ENST00000505658.1	+	5	543	c.354C>A	c.(352-354)gcC>gcA	p.A118A	LUC7L3_ENST00000393227.2_Silent_p.A118A|LUC7L3_ENST00000240304.1_Silent_p.A118A|LUC7L3_ENST00000544170.1_Silent_p.A42A			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	118					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TTCAATAGGCCGCTGGCCCAA	0.328000													13	20					3.27435e-08	3.61018e-08	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122176233	122176233	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:122176233C>T	ENST00000263710.4	-	23	2674	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	762	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCTTGTATCTCGGCTGCTCTC	0.597000													26	54					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106927107	106927107	+	Splice_Site	SNP	G	G	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr10:106927107G>T	ENST00000369701.3	+	13	2128	c.1901_splice	c.e13+1	p.W634_splice		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	634						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGCATTTGTGGTAAGGAGAG	0.458000													19	25					9.7654e-05	0.000102418	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232596796	232596796	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:232596796C>T	ENST00000366630.1	-	9	3290	c.2932G>A	c.(2932-2934)Ggc>Agc	p.G978S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G978S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G52S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	978	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGGCAAAGCCAAAAGGTTCC	0.572000													5	70					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358730	112358730	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:112358730C>T	ENST00000206423.3	-	2	976	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R8H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	8										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CATAGTGAAACGGGGTCCCAT	0.488000													18	31					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257586	158257586	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr4:158257586G>A	ENST00000296526.7	+	11	1856	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	GRIA2_ENST00000393815.2_Missense_Mutation_p.D464N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D464N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D464N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D511N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	511					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGAGGTGATTGACTTCTCAAA	0.413000													64	72					0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714344	9714344	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:9714344G>A	ENST00000377320.3	-	1	300	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GCGTTTCTGCGTTTCTGCAGC	0.542000													15	20					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								30	50					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124350193	124350193	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr10:124350193G>A	ENST00000368909.3	+	18	2226	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R707Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	707					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCAGTCCCGGTCGACGCCC	0.522000													86	128					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394648	164394648	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr4:164394648G>A	ENST00000280605.3	-	1	399	c.239C>T	c.(238-240)gCt>gTt	p.A80V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	80						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGGATAGGAGCAGCATGTCC	0.532000													12	18					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136858	40136858	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:40136858G>A	ENST00000278198.2	-	2	2948	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	329	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.R329W(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTTACACCGGGCACAACAA	0.502000													21	22					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183210395	183210395	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:183210395T>G	ENST00000341319.3	-	6	1486	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	484										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGAGTCTTGTCTGTGGCCAG	0.557000													23	40					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19356150	19356150	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr19:19356150C>T	ENST00000252575.5	+	13	3564	c.3521C>T	c.(3520-3522)cCg>cTg	p.P1174L	NCAN_ENST00000538881.1_Missense_Mutation_p.P625L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1174	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GAGAACCAGCCGGACAATTTC	0.572000													8	30					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49081347	49081347	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chrX:49081347A>C	ENST00000376265.2	-	14	1847	c.1786T>G	c.(1786-1788)Ttt>Gtt	p.F596V	CACNA1F_ENST00000323022.5_Missense_Mutation_p.F585V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F531V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	596					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AAGCAGTCAAAGCGGTTGAAG	0.557000													5	1					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648895	130648895	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:130648895G>A	ENST00000539839.1	+	1	1892	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	FZD10_ENST00000229030.4_Missense_Mutation_p.D470N	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCTCAACATGGATTACTGGAA	0.567000													7	33					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26139203	26139203	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:26139203C>T	ENST00000361547.2	+	10	1362	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	SEPN1_ENST00000374315.1_Missense_Mutation_p.A402V|SEPN1_ENST00000354177.4_Missense_Mutation_p.A402V	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	436						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACTGAGGCCTTCGACCGA	0.627000													8	18					0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18497099	18497099	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:18497099C>T	ENST00000280706.2	+	4	1302	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R169C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	169					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GGACTCTGCTCGTTTTCGTTA	0.453000													46	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417860	179417860	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:179417860A>G	ENST00000589042.1	-	335	89991	c.89767T>C	c.(89767-89769)Tct>Cct	p.S29923P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28282P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27355P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20858P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21050P|TTN_ENST00000359218.5_Missense_Mutation_p.S20983P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28282	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTTGAAGACTTAGGTTCA	0.418000													31	35					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007227	6007227	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:6007227C>T	ENST00000332249.4	-	1	988	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGTCTTCACTCCATAGACA	0.493000													4	9					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29687577	29687577	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:29687577A>G	ENST00000397938.2	+	9	1320	c.1001A>G	c.(1000-1002)aAt>aGt	p.N334S	EWSR1_ENST00000414183.2_Missense_Mutation_p.N339S|EWSR1_ENST00000332035.6_Missense_Mutation_p.N278S|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.N333S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	334	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGGCTTCAATAAGCCTGGT	0.413000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								11	15					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53157857	53157857	+	Splice_Site	SNP	C	C	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:53157857C>G	ENST00000296292.3	-	3	211		c.e3-1		RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCGTTAGTCTGTAAATGAA	0.493000													14	29					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111175	46111175	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr6:46111175G>T	ENST00000321037.4	+	4	1390	c.1160G>T	c.(1159-1161)gGg>gTg	p.G387V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	387						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCCAATAATGGGACCTTTGGT	0.423000													7	95					1.06961e-07	1.14983e-07	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762473	53762473	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr19:53762473G>T	ENST00000341702.3	+	1	929	c.845G>T	c.(844-846)aGc>aTc	p.S282I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	282					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGGGCCAGCAGCTCCATCGTT	0.483000													54	74					4.25531e-23	5.08274e-23	1	1	0
GPR6	0	broad.mit.edu	37	6	110300979	110300979	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr6:110300979C>G	ENST00000414000.2	+	3	948	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	GPR6_ENST00000275169.3_Missense_Mutation_p.L222V			P46095	GPR6_HUMAN	G protein-coupled receptor 6	222						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)		GGTGCGCCCGCTGGCGCGCAG	0.697000													8	3					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700629	49700629	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:49700629C>T	ENST00000296452.4	+	7	11152	c.11038C>T	c.(11038-11040)Cgg>Tgg	p.R3680W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3680					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGGCCCGGCCCCACTC	0.667000													10	14					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122093	39122093	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:39122093C>T	ENST00000216044.5	+	7	1389	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	386					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCTCCCCCCGCACCAGCTA	0.567000													33	49					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:41266101C>G	ENST00000349496.5	+	3	378	c.98C>G	c.(97-99)tCt>tGt	p.S33C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488000	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				14	29					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119535462	119535462	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:119535462C>A	ENST00000264025.3	-	6	2079	c.1549G>T	c.(1549-1551)Gtg>Ttg	p.V517L	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	517					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGGGCTACACGTACCACTCC	0.627000													3	27					0.115264	0.115264	1	1	0
LRRIQ4	344657	broad.mit.edu	37	3	169539973	169539973	+	Silent	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:169539973G>A	ENST00000340806.6	+	1	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	88										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGTGCCCGGCGCTGGGGC	0.562000													36	55					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021277	24021277	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:24021277A>G	ENST00000374550.3	+	4	437	c.392A>G	c.(391-393)tAt>tGt	p.Y131C	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	131					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGGACTTCTATGTGGTATGA	0.423000													5	100					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24976513	24976513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:24976513delA	ENST00000323848.9	+	5	772	c.457delA	c.(457-459)aafs	p.K153fs	SRRM1_ENST00000374389.4_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000537199.1_Frame_Shift_Del_p.K52fs	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	153	Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGACAAAGATAAAAGAGATAA	0.358													8	7	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs112314315		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505													8	4	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061233	38061244	+	In_Frame_Del	DEL	GTTGCCGGAGTC	GTTGCCGGAGTC	-			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr14:38061233_38061244delGTTGCCGGAGTC	ENST00000250448.2	-	2	806_817	c.745_756delGACTCCGGCAAC	c.(745-756)del	p.DSGN249del	FOXA1_ENST00000540786.1_In_Frame_Del_p.DSGN216del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGAACATGTTGCCGGAGTCCGGGTGCAGC	0.679													9	13	---	---	---	---					
BBS2	583	broad.mit.edu	37	16	56531771	56531771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr16:56531771delT	ENST00000245157.5	-	14	2101	c.1681delA	c.(1681-1683)ttfs	p.I561fs	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	561					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCCAAATCAATATCATCAGTA	0.358									Bardet-Biedl syndrome				22	54	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													38	57	---	---	---	---					
