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
REL	5966	broad.mit.edu	37	2	61149057	61149057	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:61149057C>T	ENST00000295025.7	+	11	1567	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	REL_ENST00000394479.3_Missense_Mutation_p.A384V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	416					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCATCAGTGGCCCACCCCACC	0.502000			A		Hodgkin Lymphoma								10	79					0	0	0.001368	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055726	40055726	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:40055726G>A	ENST00000336649.4	+	17	2491	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.V825I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	825					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACTGGAACGTCGTTCTCTA	0.572000													7	187					0	0	0.006214	0	0
KRT33A	3883	broad.mit.edu	37	17	39502881	39502881	+	Missense_Mutation	SNP	G	G	A	rs148488457		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39502881G>A	ENST00000007735.3	-	6	960	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	306	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587000													6	83					0	0	0.001984	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379705	45379705	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:45379705G>A	ENST00000398063.2	+	2	635	c.143G>A	c.(142-144)cGc>cAc	p.R48H	AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	48					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTCTACCGCCGCCTCAACTGC	0.667000													5	34					0	0	0.000602	0	0
DLGAP4	22839	broad.mit.edu	37	20	35152721	35152721	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:35152721C>T	ENST00000373913.3	+	11	3052	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R861W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R861W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R858W|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R322W|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	861					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGCAGTTCCGGGGCCTCTG	0.532000													5	76					0	0	0.001168	0	0
LTA	4049	broad.mit.edu	37	6	31541359	31541359	+	Silent	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31541359C>T	ENST00000454783.1	+	4	765	c.507C>T	c.(505-507)caC>caT	p.H169H	LTA_ENST00000418386.2_Silent_p.H169H	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	169					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CGATGTACCACGGGGCTGCGT	0.592000													6	235					0	0	0.001168	0	0
AKR1E2	83592	broad.mit.edu	37	10	4884665	4884665	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:4884665T>C	ENST00000298375.7	+	8	877	c.806T>C	c.(805-807)aTc>aCc	p.I269T	AKR1E2_ENST00000334019.4_Missense_Mutation_p.I212T|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I171T|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I212T	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	269						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CCCGGATCTATCACCCCAAGT	0.413000													6	189					0	0	0.004482	0	0
PURG	29942	broad.mit.edu	37	8	30889490	30889490	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:30889490T>C	ENST00000475541.1	-	1	1741	c.809A>G	c.(808-810)gAc>gGc	p.D270G	PURG_ENST00000339382.2_Missense_Mutation_p.D270G	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	270						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTTATTGTCCACTCTGAA	0.438000													57	56					0	0	0.003610	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	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								44	65					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170048452	170048452	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:170048452G>A	ENST00000263816.3	-	48	9207	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2974	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G2974G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATCCACATCGCCATCACAGA	0.478000													5	113					0	0	0.000602	0	0
ABCB1	5243	broad.mit.edu	37	7	87183089	87183089	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:87183089T>C	ENST00000265724.3	-	10	1404	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ABCB1_ENST00000543898.1_Silent_p.G265G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	329	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGAGTACTTGTCCAATAGAAT	0.378000													46	64					0	0	0.003610	0	0
CMIP	80790	broad.mit.edu	37	16	81641214	81641214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr16:81641214G>T	ENST00000537098.3	+	2	415	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.E21*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	81	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGCGCAATTGAAGACGTTCA	0.463000													10	201					9.70103e-10	1.77205e-09	0.008291	1	0
DSCAM	1826	broad.mit.edu	37	21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:41496241C>T	ENST00000400454.1	-	20	4054	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1193	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597000													61	91					0	0	0.003610	0	0
TAF4B	6875	broad.mit.edu	37	18	23865961	23865961	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:23865961C>G	ENST00000269142.5	+	7	2086	c.1088C>G	c.(1087-1089)aCt>aGt	p.T363S	TAF4B_ENST00000578121.1_Missense_Mutation_p.T363S|TAF4B_ENST00000400466.2_Missense_Mutation_p.T363S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	363					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACAGTAACAACTTCTCCTGTG	0.448000													5	153					0	0	0.000602	0	0
PLAA	9373	broad.mit.edu	37	9	26905915	26905915	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr9:26905915C>T	ENST00000397292.3	-	14	2399	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	661	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCAAAAAGTCCTGAGAGCAAG	0.458000													6	62					0	0	0.001168	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856210	93856210	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:93856210T>G	ENST00000513200.3	-	4	785	c.713A>C	c.(712-714)gAt>gCt	p.D238A	KIAA0825_ENST00000329378.7_Missense_Mutation_p.D238A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D238A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.D238A	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	238										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AGCTATTACATCTAAATTTGA	0.308000													6	72					0	0	0.001984	0	0
PTPRB	0	broad.mit.edu	37	12	70965783	70965783	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:70965783T>G	ENST00000334414.6	-	12	2971	c.2927A>C	c.(2926-2928)gAc>gCc	p.D976A	PTPRB_ENST00000550857.1_Missense_Mutation_p.D668A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888A|PTPRB_ENST00000551525.1_Missense_Mutation_p.D975A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668A|PTPRB_ENST00000261266.5_Missense_Mutation_p.D758A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	758	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGATCAAAGTCTCCAGTGGC	0.413000													9	275					0	0	0.004482	0	0
PHYKPL	85007	broad.mit.edu	37	5	177652385	177652385	+	Silent	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:177652385C>A	ENST00000308158.5	-	4	618	c.384G>T	c.(382-384)acG>acT	p.T128T	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		CCTGGTGTCCCGTGTAGTGGC	0.557000													4	80					0.000602214	0.00104435	0.000602	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	93					0	0	0.000248	0	0
ZNF800	168850	broad.mit.edu	37	7	127014981	127014981	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:127014981C>G	ENST00000393313.1	-	5	1000	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZNF800_ENST00000393312.1_Missense_Mutation_p.E137Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E137Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGATTAGTTTCTATGGGTTCT	0.348000													4	83					0	0	0.000248	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351397	118351397	+	Missense_Mutation	SNP	G	G	A	rs115887041	by1000genomes	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:118351397G>A	ENST00000528052.1	+	3	235	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	55					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATCGGCACCCGCTTCCTGCTG	0.542000													7	200					0	0	0.003080	0	0
CSMD3	114788	broad.mit.edu	37	8	113697870	113697870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697870C>T	ENST00000297405.5	-	15	2491	c.2247G>A	c.(2245-2247)tgG>tgA	p.W749*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W645*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W709*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W749*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	749	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATTATCGTCCAGATGCAAT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	315					0	0	0.001984	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32571802	32571802	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:32571802G>A	ENST00000273130.4	-	10	1262	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P271S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	387					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCAGTTGGTGGTTGCTTTGCT	0.284000													3	33					0	0	0.000248	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44220940	44220940	+	Silent	SNP	T	T	C	rs61753593		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:44220940T>C	ENST00000371554.1	+	11	2104	c.1890T>C	c.(1888-1890)ccT>ccC	p.P630P	HSP90AB1_ENST00000371646.5_Silent_p.P630P|HSP90AB1_ENST00000353801.3_Silent_p.P630P			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	630					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGATCAACCCTGACCACCCCA	0.557000													4	223					0	0	0.000602	0	0
UPK3A	7380	broad.mit.edu	37	22	45689091	45689091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:45689091C>T	ENST00000216211.4	+	5	633	c.601C>T	c.(601-603)Cca>Tca	p.P201S	UPK3A_ENST00000396082.2_Missense_Mutation_p.P80S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	201					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGACACGTGGCCAGGCCGGCG	0.632000													5	66					0	0	0.001984	0	0
ASAP1	50807	broad.mit.edu	37	8	131127907	131127907	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:131127907C>G	ENST00000357668.1	-	22	2166	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	ASAP1_ENST00000518721.1_Missense_Mutation_p.E713D			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	713					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTCATCTATCTCCTCCTGTC	0.433000													7	946					0	0	0.001168	0	0
ENPP5	59084	broad.mit.edu	37	6	46129357	46129357	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46129357G>A	ENST00000371383.2	-	5	1400	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ENPP5_ENST00000230565.3_Silent_p.L380L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	380						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGATATTGAGGAGGTGGCATA	0.443000													24	336					0	0	0.006320	0	0
CTSO	1519	broad.mit.edu	37	4	156847189	156847189	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:156847189C>G	ENST00000433477.3	-	8	1034	c.965G>C	c.(964-966)tGa>tCa	p.*322S		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	0					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCAACATGTCACACAAATAT	0.308000													8	26					0	0	0.004482	0	0
ACO2	50	broad.mit.edu	37	22	41895798	41895798	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:41895798C>G	ENST00000396512.3	+	2	122	c.105C>G	c.(103-105)agC>agG	p.S35R	ACO2_ENST00000216254.4_Missense_Mutation_p.S35R			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	35				S -> T (in Ref. 1; AAB38416).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGCGATGAGCCACTTTGAGC	0.517000													5	423					0	0	0.000602	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478489	141478489	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:141478489C>G	ENST00000247881.2	+	1	248	c.201C>G	c.(199-201)atC>atG	p.I67M	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	67					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGAACACCATCTACTTCGTCT	0.443000													19	244					0	0	0.007413	0	0
OR12D2	26529	broad.mit.edu	37	6	29364925	29364925	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:29364925G>T	ENST00000383555.2	+	1	510	c.449G>T	c.(448-450)gGt>gTt	p.G150V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGGTCATTGGTTTTTTCCAT	0.473000													13	147					1.05317e-09	1.89848e-09	0.002450	1	0
TMPRSS2	0	broad.mit.edu	37	21	42845269	42845269	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:42845269G>A	ENST00000398585.3	-	9	1053	c.993C>T	c.(991-993)gcC>gcT	p.A331A	TMPRSS2_ENST00000458356.1_Silent_p.A294A|TMPRSS2_ENST00000332149.5_Silent_p.A294A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	294	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCAGTGGGCGGCTGTCACGA	0.692000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								6	8					0	0	0.001984	0	0
VIL1	7429	broad.mit.edu	37	2	219299321	219299321	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:219299321G>A	ENST00000248444.5	+	14	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	VIL1_ENST00000392114.2_Missense_Mutation_p.A214T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	525	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACTGGCGCCAACAACAC	0.572000													64	74					0	0	0.003610	0	0
ASTN1	460	broad.mit.edu	37	1	176934329	176934329	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:176934329A>C	ENST00000367654.2	-	9	1605	c.1592T>G	c.(1591-1593)tTg>tGg	p.L531W	ASTN1_ENST00000367657.3_Missense_Mutation_p.L523W|ASTN1_ENST00000361833.2_Missense_Mutation_p.L523W|ASTN1_ENST00000424564.2_Missense_Mutation_p.L523W|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	531					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCTCTCCCAAAACCAGGTC	0.423000													3	161					0	0	0.000248	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172586272	172586272	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:172586272T>C	ENST00000534253.2	+	15	1613	c.1445T>C	c.(1444-1446)aTc>aCc	p.I482T	DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.I482T|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	482					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCACTGGCATCCATTGTCAT	0.398000													10	129					0	0	0.008291	0	0
TGFB2	7042	broad.mit.edu	37	1	218609384	218609384	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:218609384G>T	ENST00000366929.4	+	6	1378	c.911G>T	c.(910-912)gGg>gTg	p.G304V	TGFB2_ENST00000366930.4_Missense_Mutation_p.G276V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	276					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAAAACAGTGGGAAGACCCCA	0.448000													5	98					1.23904e-05	2.17626e-05	0.000602	1	0
HRNR	388697	broad.mit.edu	37	1	152192979	152192979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:152192979G>A	ENST00000368801.2	-	3	1201	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	376			Q -> R (in dbSNP:rs6587649).		keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGTTGTCCCTGGCTA	0.557000													7	208					0	0	0.001984	0	0
PRKCA	5578	broad.mit.edu	37	17	64734916	64734916	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:64734916G>C	ENST00000413366.3	+	11	1291	c.1265G>C	c.(1264-1266)gGt>gCt	p.G422A		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	422	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TATGTCAACGGTGGGGACCTC	0.453000													3	110					0	0	0.000248	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835109	27835109	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:27835109T>C	ENST00000331442.3	-	1	250	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	67	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTAAGGCCTTCTTAAGGGCT	0.582000													6	218					0	0	0.001984	0	0
PTPN14	5784	broad.mit.edu	37	1	214625279	214625279	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:214625279C>G	ENST00000366956.5	-	3	407	c.213G>C	c.(211-213)caG>caC	p.Q71H	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCGTGCTTGCTGGCTCTTGC	0.458000													8	120					0	0	0.008291	0	0
KIF16B	55614	broad.mit.edu	37	20	16360692	16360692	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:16360692C>T	ENST00000354981.2	-	19	2112	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTGCTTGCGAATCTGGAG	0.522000													11	181					0	0	0.000978	0	0
SPEN	23013	broad.mit.edu	37	1	16258985	16258985	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:16258985A>G	ENST00000375759.3	+	11	6454	c.6250A>G	c.(6250-6252)Agg>Ggg	p.R2084G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2084					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGAAACTCCAGGTTAGCAGT	0.512000													4	206					0	0	0.000602	0	0
NDUFS1	4719	broad.mit.edu	37	2	206991481	206991481	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:206991481C>G	ENST00000233190.5	-	17	2238	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	658					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CCTTCAATATCATCATATCGA	0.393000													16	161					0	0	0.004990	0	0
KRT33B	3884	broad.mit.edu	37	17	39520186	39520186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39520186C>T	ENST00000251646.3	-	7	1166	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	373	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGGTGGTGGCGCAGGGGTTG	0.522000													8	113					0	0	0.003080	0	0
IKZF1	10320	broad.mit.edu	37	7	50444275	50444275	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:50444275C>T	ENST00000331340.3	+	4	360	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	IKZF1_ENST00000357364.4_Missense_Mutation_p.R69C|IKZF1_ENST00000440768.2_Missense_Mutation_p.R69C|IKZF1_ENST00000439701.1_Missense_Mutation_p.R69C|IKZF1_ENST00000359197.5_Missense_Mutation_p.R69C|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.R69C	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	69					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGAATGGGCGTGCCTGTGA	0.458000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	173					0	0	0.001168	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547124	37547124	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:37547124G>A	ENST00000299824.1	+	11	1708	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	507					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCAGCATGGCCAGGACGGG	0.612000													5	68					0	0	0.000602	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505024	151505024	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:151505024G>C	ENST00000317605.4	+	1	1948	c.843G>C	c.(841-843)gaG>gaC	p.E281D	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	281					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGTACGAGTGCGAGAAAC	0.627000													7	58					0	0	0.006214	0	0
DEFB118	117285	broad.mit.edu	37	20	29956513	29956513	+	Splice_Site	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:29956513T>C	ENST00000253381.2	+	1	91		c.e1+2			NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118						cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGATCCCAGGTAATCAGAGGT	0.502000													4	180					0	0	0.000248	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	55					0	0	0.005443	0	0
FSIP2	401024	broad.mit.edu	37	2	186670207	186670207	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:186670207T>C	ENST00000343098.5	+	17	16441	c.16441T>C	c.(16441-16443)Ttc>Ctc	p.F5481L	FSIP2_ENST00000424728.1_Missense_Mutation_p.F5392L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATCTGCATTCAGGATTCA	0.378000													5	125					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113697824	113697824	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697824C>G	ENST00000297405.5	-	15	2537	c.2293G>C	c.(2293-2295)Gac>Cac	p.D765H	CSMD3_ENST00000455883.2_Missense_Mutation_p.D661H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D725H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D765H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	765	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTCAAAGTCATTGAAAGAA	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	312					0	0	0.003080	0	0
TAF7L	54457	broad.mit.edu	37	X	100530268	100530268	+	Splice_Site	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:100530268T>C	ENST00000372907.3	-	12	1297	c.1284_splice	c.e12-1	p.N429_splice	TAF7L_ENST00000356784.1_Splice_Site_p.N343_splice|TAF7L_ENST00000324762.6_Splice_Site_p.N269_splice|TAF7L_ENST00000372905.2_Splice_Site_p.N269_splice	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	429					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTGAAAATGATTCTGAAAAAT	0.303000													3	95					0	0	0.000248	0	0
USH2A	7399	broad.mit.edu	37	1	215847818	215847818	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:215847818G>C	ENST00000366943.2	-	63	13821	c.13435C>G	c.(13435-13437)Ctt>Gtt	p.L4479V	USH2A_ENST00000307340.3_Missense_Mutation_p.L4479V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4479	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCTCCTAAGTTCATAACTT	0.448000										HNSCC(13;0.011)			6	296					0	0	0.001168	0	0
GEMIN5	25929	broad.mit.edu	37	5	154307077	154307077	+	Silent	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:154307077A>G	ENST00000285873.7	-	7	1023	c.948T>C	c.(946-948)tcT>tcC	p.S316S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	316					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGTCTCCAAGATTGAGTGA	0.383000													3	55					0	0	0.000248	0	0
BTNL2	56244	broad.mit.edu	37	6	32370727	32370727	+	Missense_Mutation	SNP	C	C	T	rs79379254		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:32370727C>T	ENST00000454136.3	-	3	698	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	BTNL2_ENST00000374993.1_Missense_Mutation_p.V232I|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	232	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGGCTGATGACCGACCCCTTC	0.582000													23	22					0	0	0.002299	0	0
LRRC16A	55604	broad.mit.edu	37	6	25606448	25606448	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:25606448G>C	ENST00000329474.6	+	35	4162	c.3794G>C	c.(3793-3795)aGt>aCt	p.S1265T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1265					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAAACCCAGTCTGGCAGCA	0.592000													8	23					0	0	0.004482	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785210	149785210	+	Silent	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:149785210G>C	ENST00000331491.1	-	1	26	c.27C>G	c.(25-27)cgC>cgG	p.R9R		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGTCGACTTGCGGGCAGTCT	0.602000													4	95					0	0	0.001168	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660239	77660239	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:77660239C>T	ENST00000296043.6	+	5	1866	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	305					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATATTCGCTATGTCAA	0.577000													6	142					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13769245	13769245	+	Splice_Site	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:13769245C>G	ENST00000265104.4	-	58	9825	c.9720_splice	c.e58-1	p.V3241_splice	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3241	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTTAAGACCTAATTCAAT	0.413000									Kartagener syndrome				68	220					0	0	0.003610	0	0
PALLD	23022	broad.mit.edu	37	4	169432972	169432972	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:169432972C>A	ENST00000261509.6	+	2	528	c.317C>A	c.(316-318)gCa>gAa	p.A106E	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A106E	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	106					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCCTCTGGCAGAGAAACAA	0.527000									Pancreatic Cancer, Familial Clustering of				3	37					0.004672	0.0080008	0.004672	1	0
OR2AG1	144125	broad.mit.edu	37	11	6806340	6806340	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr11:6806340T>C	ENST00000307401.4	+	1	93	c.72T>C	c.(70-72)ccT>ccC	p.P24P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGGTCTCCTGAACTGCTCT	0.498000													8	201					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578467T>G	ENST00000420246.2	-	5	595	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_ENST00000269305.4_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGACGCGGGTGCCGGGCGGG	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	40					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9058537	9058537	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr19:9058537A>G	ENST00000397910.4	-	3	29112	c.28909T>C	c.(28909-28911)Tca>Cca	p.S9637P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9639	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCTAGTGACATTGTGGAC	0.498000													4	96					0	0	0.000248	0	0
HSPD1	3329	broad.mit.edu	37	2	198361940	198361940	+	Silent	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:198361940A>G	ENST00000388968.3	-	3	618	c.351T>C	c.(349-351)acT>acC	p.T117T	HSPD1_ENST00000345042.2_Silent_p.T117T|HSPD1_ENST00000544407.1_Silent_p.T117T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GTGCCAGTACAGTAGCAGTGG	0.423000													4	131					0	0	0.000248	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													3	169					0	0	0.004672	0	0
NBEAL1	65065	broad.mit.edu	37	2	204003429	204003429	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:204003429G>C	ENST00000449802.1	+	30	5052	c.4719G>C	c.(4717-4719)caG>caC	p.Q1573H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1573							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAAATTCAGATCCAGTTGC	0.373000													22	210					0	0	0.003330	0	0
GPR116	221395	broad.mit.edu	37	6	46834708	46834708	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46834708T>C	ENST00000283296.7	-	13	2076	c.1788A>G	c.(1786-1788)ggA>ggG	p.G596G	GPR116_ENST00000456426.2_Silent_p.G454G|GPR116_ENST00000265417.7_Silent_p.G596G|GPR116_ENST00000362015.4_Silent_p.G596G|GPR116_ENST00000545669.1_Silent_p.G25G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTTGTAGTCTCCATCCTCCT	0.448000													3	88					0	0	0.004672	0	0
TIMM21	29090	broad.mit.edu	37	18	71816117	71816117	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:71816117T>C	ENST00000580087.1	+	1	360	c.74T>C	c.(73-75)tTg>tCg	p.L25S	TIMM21_ENST00000169551.6_Missense_Mutation_p.L25S			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	25					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											CGATTGCTTTTGCCATACATC	0.458000													11	309					0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	51025871	51025871	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:51025871T>C	ENST00000442544.2	+	27	4718	c.4102T>C	c.(4102-4104)Tct>Cct	p.S1368P	DCC_ENST00000581580.1_Missense_Mutation_p.S1001P|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1368					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCACTTTTGTCTCAGCCAGG	0.443000													80	109					0	0	0.003610	0	0
ANKHD1	54882	broad.mit.edu	37	5	139866584	139866584	+	Silent	SNP	T	T	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:139866584T>A	ENST00000297183.6	+	14	2308	c.2184T>A	c.(2182-2184)ccT>ccA	p.P728P	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P728P|ANKHD1_ENST00000360839.2_Silent_p.P728P	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGTACCTCCCCAGGAAC	0.403000													4	63					0	0	0.000602	0	0
CLIC1	1192	broad.mit.edu	37	6	31698750	31698750	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31698750T>C	ENST00000375780.2	-	7	1167	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V			O00299	CLIC1_HUMAN	chloride intracellular channel 1	199	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCCTCGGGGATGGTGAATCCC	0.582000													20	35					0	0	0.007413	0	0
CD163	9332	broad.mit.edu	37	12	7649700	7649700	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:7649700C>A	ENST00000359156.4	-	5	1010	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CD163_ENST00000396620.3_Missense_Mutation_p.D270Y|CD163_ENST00000541972.1_Missense_Mutation_p.D258Y|CD163_ENST00000432237.2_Missense_Mutation_p.D270Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	270	SRCR 3.	Cleavage; in calcium-free condition.			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGACTCCATCTACCAGTCTC	0.468000													7	141					5.18039e-06	9.21706e-06	0.003080	1	0
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479	by1000genomes	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)cttfs	p.L18fs						olfactory receptor, family 2, subfamily T, member 7																		TTCCCCTGGCTTCTTTGCCCTC	0.515													3	5	---	---	---	---					
LINC00971	0	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													3	4	---	---	---	---					
TAPT1-AS1	0	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs146274448		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1																						AGGGTTTGTCTTTTTTTTTTT	0.383													3	6	---	---	---	---					
C4orf40	401137	broad.mit.edu	37	4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T	rs148239542		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:71024317_71024318insT	ENST00000344526.5	+	3	537_538	c.348_349insT	c.(346-351)agttttfs	p.SF116fs	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.SF116fs	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.550													8	378	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113326251	113326252	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113326251_113326252insA	ENST00000297405.5	-	49	7823_7824	c.7579_7580insT	c.(7579-7581)cctfs	p.P2527fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.P2457fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.P2487fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.P2423fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCACT	0.317										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	259	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													5	8	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													7	180	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76919037	76919038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:76919037_76919038insT	ENST00000373344.5	-	12	4167_4168	c.3953_3954insA	c.(3952-3954)acafs	p.T1318fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1280fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTGACTTGATTTTTTGCTTC	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	3	---	---	---	---					
