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
SATB1	6304	broad.mit.edu	37	3	18435971	18435971	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	uc003cbh.3	-	6	2924	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	SATB1_uc003cbi.3_Missense_Mutation_p.A397S|SATB1_uc003cbj.3_Missense_Mutation_p.A397S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	397					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTTAAAAGCCACACGTGCA	0.433000													46	92					1.61004e-24	1.69054e-24	1	1	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186555	37186555	+	RNA	SNP	C	C	T	rs9893920	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:37186555C>T	uc002hrd.1	+	0		c.397C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GAACCTTCTCCAGTCCAGCAA	0.587000													3	27					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85607825	85607825	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	uc004amo.1	-	14	2297	c.2036C>G	c.(2035-2037)gCc>gGc	p.A679G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	679					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTACCATGGCCAGTTTCTC	0.473000													76	156					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15719776	15719776	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	uc003caj.1	-	23	2700	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	ANKRD28_uc003cai.1_Missense_Mutation_p.D699N|ANKRD28_uc011avz.1_Missense_Mutation_p.D699N|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc011avy.1_5'Flank	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	853						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGTAGAGTCCACAGAATTG	0.398000													16	16					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19026633	19026633	+	Splice_Site	SNP	G	G	A	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	uc002zoq.1	-	10	1645	c.1397_splice	c.e10-1	p.D466_splice	DGCR2_uc021wkx.1_Splice_Site_p.D463_splice|DGCR2_uc021wky.1_Splice_Site_p.D425_splice|DGCR2_uc021wkz.1_Splice_Site_p.D242_splice|DGCR2_uc011agr.1_Splice_Site_p.D422_splice|DGCR2_uc002zor.1_Splice_Site_p.D242_splice	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	466					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.D466D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622000													12	31					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76991172	76991172	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	uc002jwj.3	-	2	1258	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CANT1_uc002jwn.3_Missense_Mutation_p.G255S|CANT1_uc002jwk.3_Missense_Mutation_p.G255S|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652000			T	ETV4	prostate								3	3					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33581234	33581234	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	uc002xbi.2	+	25	2848	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	802						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672000													14	18					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108195254	108195254	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	uc003dxa.1	-	12	1340	c.1283C>T	c.(1282-1284)aCt>aTt	p.T428I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	428	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGTTCTATAGTTTGACCTCT	0.338000													26	23					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96215430	96215430	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	uc003kmq.3	+	1	751	c.41C>T	c.(40-42)cCa>cTa	p.P14L	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.P14L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.P8L|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	14					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373000													6	82					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	uc021qek.1	+	0	893	c.893C>T	c.(892-894)aCg>aTg	p.T298M	MRGPRX3_uc001mnu.3_Missense_Mutation_p.T298M	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	298						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298M(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562000													28	11					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27439832	27439832	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	uc011aww.2	-	16	2661	c.2440C>G	c.(2440-2442)Ctt>Gtt	p.L814V	SLC4A7_uc011awx.2_Missense_Mutation_p.L801V|SLC4A7_uc021wun.1_Missense_Mutation_p.L690V|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.L797V|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.L686V|SLC4A7_uc011axb.2_Missense_Mutation_p.L801V|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.L686V|SLC4A7_uc010hfl.3_Missense_Mutation_p.L355V|SLC4A7_uc003cdv.3_Missense_Mutation_p.L805V|SLC4A7_uc003cdw.3_Missense_Mutation_p.L681V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	805						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACACCACGAAGTTTTTTACAT	0.363000													43	43					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170609	104170609	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	uc004bbh.1	+	2	835	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ZNF189_uc004bbg.1_Missense_Mutation_p.R145C|ZNF189_uc004bbi.1_Missense_Mutation_p.R173C|ZNF189_uc011lvk.1_Missense_Mutation_p.R172C|ZNF189_uc022ble.1_Missense_Mutation_p.R92C	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413000													37	107					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			24	36					0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29771597	29771597	+	RNA	SNP	A	A	C	rs850084	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:29771597A>C	uc003tai.3	+	8		c.673A>C								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		CTACAATGGCAAGCGTGAAGC	0.398000													4	38					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940431	76940431	+	Splice_Site	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	uc004ecp.4	-	8	894	c.662_splice	c.e8+1	p.R221_splice	ATRX_uc004ecq.4_Splice_Site_p.R183_splice|ATRX_uc004eco.4_Splice_Site_p.R6_splice|ATRX_uc004ecr.2_Splice_Site_p.R182_splice|ATRX_uc010nlx.1_Splice_Site_p.R221_splice|ATRX_uc010nly.1_Splice_Site_p.R166_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	221	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TATTACCTACCTACATTGTTC	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						36	62					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345529	28345529	+	Silent	SNP	T	T	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	uc001iua.1	-	17	1835	c.1431A>G	c.(1429-1431)ctA>ctG	p.L477L	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.L477L|MPP7_uc009xla.2_Silent_p.L477L|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	477	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GCTTAAATTCTAGTGTCCTTA	0.333000													49	49					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166211024	166211024	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	uc002udc.3	+	16	3532	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	SCN2A_uc002udd.3_Missense_Mutation_p.S1081T|SCN2A_uc002ude.3_Missense_Mutation_p.S1081T	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1081					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATAGGCAGCAGTGTAGAAAAA	0.388000													29	49					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								26	44					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570030	248570030	+	Silent	SNP	C	C	T	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	uc010pzm.2	+	0	735	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCCTCTACGAGACAGTGA	0.493000													33	45					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779561	140779561	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:140779561C>T	uc003lkf.2	+	0	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.R623C|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAGGTGCGCACAGCGCG	0.701000													23	43					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114882253	114882253	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	uc004eqe.3	+	14	1810	c.1676T>G	c.(1675-1677)aTt>aGt	p.I559S	PLS3_uc004eqd.3_Missense_Mutation_p.I559S|PLS3_uc011mtf.2_Missense_Mutation_p.I546S|PLS3_uc011mth.2_Missense_Mutation_p.I514S|PLS3_uc011mtg.2_Missense_Mutation_p.I532S|PLS3_uc011mti.2_Missense_Mutation_p.I235S|PLS3_uc011mtj.2_Missense_Mutation_p.I153S|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	559	Actin-binding 2.|CH 4.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GTGGATTTAATTGATGCCATC	0.403000													61	94					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608789	4608789	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	uc010qyh.2	+	0	769	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488000													64	44					0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74347933	74347933	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	uc001xow.3	+	7	1037	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	PTGR2_uc010tue.2_Missense_Mutation_p.K293E|PTGR2_uc001xox.3_Missense_Mutation_p.K293E|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	293					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						ATTAAATTATAAAGACAAATT	0.358000													48	55					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21226157	21226157	+	Missense_Mutation	SNP	C	C	T	rs149273387		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	uc002red.3	-	28	12265	c.12137G>A	c.(12136-12138)cGg>cAg	p.R4046Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4046					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R4046W(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAGATTCCCGGACCCTCAA	0.408000													110	214					0	0	1	0	0
CXorf26	51260	broad.mit.edu	37	X	75396760	75396760	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:75396760C>G	uc004ecl.1	+	4	545	c.342C>G	c.(340-342)gaC>gaG	p.D114E		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	114										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						TTGTTGAAGACTTCAACTATG	0.423000													27	80					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612569	152612569	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	uc011myn.2	+	1	1139	c.237G>A	c.(235-237)gcG>gcA	p.A79A	ZNF275_uc004fhg.2_Silent_p.A142A|ZNF275_uc022cht.1_Silent_p.A79A|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	142						intracellular	nucleic acid binding|zinc ion binding	p.G79G(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607000													16	18					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510829	56510829	+	Silent	SNP	G	G	A	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	uc010rjo.2	-	0	459	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAGGGCGGTGGACATGG	0.478000													13	175					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	22					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706072	1706072	+	Silent	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	uc010uvh.2	+	8	1314	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	CRAMP1L_uc002cmf.3_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	438						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGCCAAGGACGCCCACGTGC	0.706000													10	16					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86021973	86021973	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	uc003ycw.3	+	1	456	c.248T>G	c.(247-249)cTa>cGa	p.L83R	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Intron|LRRCC1_uc010maa.2_Intron|LRRCC1_uc003ycy.3_Missense_Mutation_p.L63R	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	83					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAGGACTAAACACACTG	0.323000													9	11					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348622	124348622	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:124348622C>T	uc001lgk.1	+	16	2052	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	DMBT1_uc001lgl.1_Missense_Mutation_p.T639M|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.T649M|DMBT1_uc021qag.1_Missense_Mutation_p.T639M|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.T649M|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	649	SRCR 5.		T -> M.		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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				GGCTGGGCCACGTCAGCCCCA	0.612000													12	194					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	uc003jok.3	-	7	2314	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000													29	31					0	0	1	0	0
SDR39U1	56948	broad.mit.edu	37	14	24912008	24912008	+	Splice_Site	SNP	T	T	C	rs17184766	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:24912008T>C	uc001wpm.3	-	1	1	c.-31_splice	c.e1-1		SDR39U1_uc001wpi.3_5'Flank|AK056368_uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 39U, member 1 (SDR39U1), mRNA.								binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						TGCGTAAAGTTTAGAGTTTAC	0.582000													7	133					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570840	47570840	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	uc002pga.4	-	14	2723	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	895							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701000													13	19					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111885310	111885310	+	Missense_Mutation	SNP	G	G	A	rs72650673	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr12:111885310G>A	uc001tsf.3	+	4	1228	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	SH2B3_uc001tse.3_Missense_Mutation_p.E400K|SH2B3_uc010syf.2_Missense_Mutation_p.E400K|SH2B3_uc010syg.2_Missense_Mutation_p.E198K	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	400	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GCGGCGTGGGGAATACGTGCT	0.632000													5	93					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978828	41978828	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	uc001cgz.4	-	7	7277	c.6064G>A	c.(6064-6066)Ggc>Agc	p.G2022S	HIVEP3_uc001cha.4_Missense_Mutation_p.G2022S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2022					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAGAGCGCCCATGCCCCTT	0.632000													31	38					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467824	74467824	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	uc002axg.1	+	1	907	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	ISLR_uc002axh.1_Missense_Mutation_p.A209T|ISLR_uc021sqf.1_Missense_Mutation_p.A209T	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	209	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAACATCGCCTGCACCTC	0.652000													12	48					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000													4	22					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73511062	73511062	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	uc003uaa.2	+	2	477	c.263C>G	c.(262-264)tCt>tGt	p.S88C	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.S54C|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	88	LIM zinc-binding 2.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CATGGGTGCTCTGAGCAAATC	0.597000													18	34					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713009	138713009	+	Silent	SNP	G	G	A			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	uc004cgr.4	-	10	3498	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_uc004cgq.4_Silent_p.F1056F|CAMSAP1_uc010nbg.3_Silent_p.F888F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1166						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567000													105	108					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021019	5021019	+	Silent	SNP	T	T	C			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	uc010qyu.2	+	0	807	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463000													5	34					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	AATAA	-			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	uc021ruk.1	+	0	1258_1262	c.1258_1262delAATAA	c.(1258-1263)aataaafs	p.N420fs	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Frame_Shift_Del_p.N420fs	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	420					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341													21	86	---	---	---	---					
