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
KDM6A	7403	broad.mit.edu	37	X	44949094	44949094	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:44949094T>A	ENST00000377967.4	+	25	3696	c.3655T>A	c.(3655-3657)Tgg>Agg	p.W1219R	KDM6A_ENST00000543216.1_Missense_Mutation_p.W1140R|KDM6A_ENST00000536777.1_Missense_Mutation_p.W1174R|KDM6A_ENST00000382899.4_Missense_Mutation_p.W1226R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1219	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGATTTGGTCTGGATAAATGC	0.408000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								7	34					0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513062	69513062	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:69513062A>G	ENST00000338206.5	-	6	1362	c.1353T>C	c.(1351-1353)caT>caC	p.H451H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	451					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGGTTGGTCATGATGAATTC	0.388000													21	103					0	0	0.001523	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837210	12837210	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:12837210C>G	ENST00000357726.4	+	3	947	c.920C>G	c.(919-921)tCg>tGg	p.S307W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	307										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCAGAGTCGGACCTGAAG	0.557000													45	127					0	0	0.002222	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594660	61594660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:61594660C>T	ENST00000370349.3	+	7	850	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R222W			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	222					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCCCAAAGCCGGCCGGTGTC	0.637000													19	42					0	0	0.001882	0	0
ARSJ	79642	broad.mit.edu	37	4	114823767	114823767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:114823767G>C	ENST00000315366.7	-	2	2329	c.1463C>G	c.(1462-1464)tCa>tGa	p.S488*	ARSJ_ENST00000541197.1_Nonsense_Mutation_p.S488*	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	488						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTTGCCAGTTGACAAGGTGAT	0.512000													33	61					0	0	0.002096	0	0
TNC	3371	broad.mit.edu	37	9	117808854	117808854	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:117808854T>G	ENST00000350763.4	-	17	5371	c.4960A>C	c.(4960-4962)Atc>Ctc	p.I1654L	TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.I1291L|TNC_ENST00000346706.3_Missense_Mutation_p.I1108L|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1472L|TNC_ENST00000340094.3_Missense_Mutation_p.I1290L|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.I1199L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1654	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTATCTCTGATTTTGAGAACA	0.493000													43	135					0	0	0.006999	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032187	26032187	+	Silent	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:26032187G>T	ENST00000244661.2	-	1	101	c.102C>A	c.(100-102)ggC>ggA	p.G34G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	34					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTTCACGCCGCCGGTAGCCG	0.627000													16	138					4.7546e-09	5.89987e-09	0.004007	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50671941	50671941	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:50671941C>T	ENST00000439308.2	-	3	1412	c.920G>A	c.(919-921)aGa>aAa	p.R307K	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R307K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	307					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCTCCTCTCTGTGGCCAGG	0.637000													3	12					0	0	0.004672	0	0
AADACL4	343066	broad.mit.edu	37	1	12726525	12726525	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:12726525C>G	ENST00000376221.1	+	4	1003	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	335						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCATCGCTCAGCTTCCTGA	0.517000													10	106					0	0	0.006214	0	0
IQGAP3	128239	broad.mit.edu	37	1	156532415	156532415	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:156532415G>C	ENST00000361170.2	-	9	851	c.841C>G	c.(841-843)Cag>Gag	p.Q281E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	281					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.Q281K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTCAGCCTGAGTTAGGTAG	0.507000													49	135					0	0	0.003610	0	0
TTC25	83538	broad.mit.edu	37	17	40093075	40093075	+	RNA	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:40093075G>A	ENST00000591658.1	+	0	588							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CACCAAGGGAGAGCCCAAGTG	0.522000													26	68					0	0	0.003330	0	0
PAQR8	85315	broad.mit.edu	37	6	52268776	52268776	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577000													23	52					0	0	0.003954	0	0
GRM7	2917	broad.mit.edu	37	3	6903352	6903352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:6903352C>T	ENST00000486284.1	+	1	551	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	GRM7_ENST00000402647.2_Missense_Mutation_p.P93S|GRM7_ENST00000403881.1_Missense_Mutation_p.P93S|GRM7_ENST00000357716.4_Missense_Mutation_p.P93S|GRM7_ENST00000389336.4_Missense_Mutation_p.P93S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	93					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAACAGTGATCCCAACCTACT	0.607000													11	7					0	0	0.008291	0	0
JARID2	3720	broad.mit.edu	37	6	15501599	15501599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:15501599G>A	ENST00000341776.2	+	8	2651	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Missense_Mutation_p.D631N|JARID2_ENST00000541660.1_Missense_Mutation_p.D765N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	803					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGAGGAGGAGGACAAAGGCGT	0.587000													5	27					0	0	0.001168	0	0
KIF5A	3798	broad.mit.edu	37	12	57975223	57975223	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:57975223C>T	ENST00000455537.2	+	25	3055	c.2781C>T	c.(2779-2781)taC>taT	p.Y927Y	KIF5A_ENST00000286452.5_Silent_p.Y838Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	927	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGGCCACTACCCAGCATCCT	0.547000													9	72					0	0	0.004482	0	0
INPP4A	3631	broad.mit.edu	37	2	99156130	99156130	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:99156130T>A	ENST00000074304.5	+	10	1203	c.810T>A	c.(808-810)gaT>gaA	p.D270E	INPP4A_ENST00000523221.1_Missense_Mutation_p.D270E|INPP4A_ENST00000409540.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409851.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409016.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.D270E	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	270					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TAGAGGAAGATGCAGCCAGGT	0.562000													3	46					0	0	0.004672	0	0
HSD17B3	3293	broad.mit.edu	37	9	99003167	99003167	+	Missense_Mutation	SNP	G	G	A	rs28939085		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:99003167G>A	ENST00000375263.3	-	10	742	c.695C>T	c.(694-696)tCg>tTg	p.S232L	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Intron	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	232			S -> L (in MPH; dbSNP:rs28939085).		androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CATTGCAGTCGAGACAGCATA	0.433000													13	50					0	0	0.001855	0	0
PLCH1	23007	broad.mit.edu	37	3	155200527	155200527	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:155200527A>G	ENST00000460012.1	-	23	3555	c.3198T>C	c.(3196-3198)ggT>ggC	p.G1066G	PLCH1_ENST00000340059.7_Silent_p.G1104G|PLCH1_ENST00000334686.6_Silent_p.G1066G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.G1066G			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1104					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTTCACACCATGCAGAT	0.473000													49	170					0	0	0.003610	0	0
PTPRN	5798	broad.mit.edu	37	2	220161748	220161748	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:220161748T>C	ENST00000295718.2	-	15	2435	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	PTPRN_ENST00000423636.2_Missense_Mutation_p.E642G|PTPRN_ENST00000409251.3_Missense_Mutation_p.E703G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	732	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGTTGCCCTCCCCCTGCGC	0.637000													3	117					0	0	0.000248	0	0
COMTD1	118881	broad.mit.edu	37	10	76993922	76993922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:76993922C>T	ENST00000372538.3	-	7	780	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	233						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GTTTAGGTTTCGCACACACTC	0.682000													23	58					0	0	0.002780	0	0
DSG4	147409	broad.mit.edu	37	18	28968849	28968849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr18:28968849G>A	ENST00000359747.4	+	5	414	c.385G>A	c.(385-387)Gct>Act	p.A129T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A129T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	129	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTATTGCCGGGCTCTGAATTC	0.368000													32	71					0	0	0.005524	0	0
USP19	10869	broad.mit.edu	37	3	49148936	49148936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:49148936C>T	ENST00000453664.1	-	21	3496	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	USP19_ENST00000398888.2_Missense_Mutation_p.E969K|USP19_ENST00000398892.3_Missense_Mutation_p.E1009K|USP19_ENST00000398896.1_Missense_Mutation_p.E777K|USP19_ENST00000398898.2_Missense_Mutation_p.E1009K|USP19_ENST00000417901.1_Missense_Mutation_p.E1072K|USP19_ENST00000434032.2_Missense_Mutation_p.E1070K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	969					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTACCTTCGGGTCGGGAC	0.607000													17	17					0	0	0.006122	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	77					0	0	0.000602	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	65					0	0	0.001984	0	0
NSMCE1	197370	broad.mit.edu	37	16	27237111	27237111	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:27237111G>A	ENST00000361439.4	-	7	756	c.657C>T	c.(655-657)taC>taT	p.Y219Y	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	219					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TCGACTGGAAGTACTTGGCCA	0.612000													20	48					0	0	0.008871	0	0
ZNF574	64763	broad.mit.edu	37	19	42584413	42584413	+	Missense_Mutation	SNP	G	G	A	rs147085110		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:42584413G>A	ENST00000600245.1	+	2	2310	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	ZNF574_ENST00000222339.7_Missense_Mutation_p.R642Q|ZNF574_ENST00000359044.4_Missense_Mutation_p.R552Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGGCCCTACCGGTGTGGGGAC	0.657000													51	87					0	0	0.003610	0	0
ZNF845	91664	broad.mit.edu	37	19	53855637	53855637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:53855637A>G	ENST00000458035.1	+	4	1826	c.1709A>G	c.(1708-1710)cAa>cGa	p.Q570R	ZNF845_ENST00000595091.1_Missense_Mutation_p.Q570R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTACCATCAAGCAATCCAT	0.398000													4	41					0	0	0.000248	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572217	76572217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:76572217C>G	ENST00000307431.8	+	20	3582	c.3197C>G	c.(3196-3198)tCt>tGt	p.S1066C	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATACCTTTCTGTGATCATT	0.358000													17	125					0	0	0.004007	0	0
EID2	163126	broad.mit.edu	37	19	40030624	40030624	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:40030624C>T	ENST00000390658.2	-	1	246	c.96G>A	c.(94-96)cgG>cgA	p.R32R		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	32					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GGGCCGGCTCCCGCCTCCCGC	0.751000													15	23					0	0	0.002450	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734834	12734834	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:12734834C>T	ENST00000380682.1	+	15	2762	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	752					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGACGAGGACGAGGTGAGCT	0.582000													6	142					0	0	0.001984	0	0
MYH7B	57644	broad.mit.edu	37	20	33589835	33589835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:33589835G>A	ENST00000262873.7	+	42	5979	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1921						membrane|myosin filament	actin binding|ATP 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)			AGACATGGCGGAAACCCAGGC	0.672000													14	62					0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T	rs137852790		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:7578478G>T	ENST00000420246.2	-	5	584	c.452C>A	c.(451-453)cCc>cAc	p.P151H	TP53_ENST00000269305.4_Missense_Mutation_p.P151H|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and 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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GCCGGGCGGGGGTGTGGAATC	0.607000		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)			39	24					4.07013e-28	5.1636e-28	0.008740	1	0
TRPM1	4308	broad.mit.edu	37	15	31294599	31294599	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:31294599T>C	ENST00000542188.1	-	27	4668	c.4355A>G	c.(4354-4356)tAt>tGt	p.Y1452C	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1435C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1413C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1413					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAGGGGATAGGAAATAGT	0.393000													37	74					0	0	0.003271	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885884	20885884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:20885884G>T	ENST00000381552.1	+	10	1596	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G410W|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G361W|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G292W			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	410					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATATTCTCTGGGGGGATAGT	0.383000													16	74					3.52763e-06	4.28355e-06	0.004990	1	0
APBA1	320	broad.mit.edu	37	9	72082878	72082878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:72082878C>T	ENST00000265381.4	-	5	1565	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	448	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGCAGGGTCCCGGAACTGT	0.557000													65	154					0	0	0.003610	0	0
CCDC88A	55704	broad.mit.edu	37	2	55528370	55528370	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:55528370A>T	ENST00000436346.1	-	28	5557	c.4716T>A	c.(4714-4716)gaT>gaA	p.D1572E	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1571E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1571E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1544E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D100E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1572					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTAGAATCATCACTAACAC	0.308000													7	24					0	0	0.004482	0	0
MMP2	4313	broad.mit.edu	37	16	55539340	55539340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:55539340T>C	ENST00000219070.4	+	13	2478	c.1969T>C	c.(1969-1971)Tgg>Cgg	p.W657R	MMP2_ENST00000543485.1_Missense_Mutation_p.W581R|MMP2_ENST00000570308.1_Missense_Mutation_p.W581R|MMP2_ENST00000437642.2_Missense_Mutation_p.W607R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	657	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAAATCCGACTGGCTAGGCTG	0.567000													8	175					0	0	0.004482	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27824450	27824450	+	Silent	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:27824450T>G	ENST00000318304.8	+	14	1567	c.1284T>G	c.(1282-1284)acT>acG	p.T428T	PPFIBP1_ENST00000228425.6_Silent_p.T411T|PPFIBP1_ENST00000537927.1_Silent_p.T275T|PPFIBP1_ENST00000542629.1_Silent_p.T397T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	428					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAAAGTTGACTCCTAAGCCAG	0.343000													7	71					0	0	0.004482	0	0
CLCN5	1184	broad.mit.edu	37	X	49854987	49854987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:49854987G>A	ENST00000376088.3	+	13	2600	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	CLCN5_ENST00000376091.3_Missense_Mutation_p.M653I|CLCN5_ENST00000307367.2_Missense_Mutation_p.M583I|CLCN5_ENST00000376108.3_Missense_Mutation_p.M583I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	583					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCCTGGCAATGGATGTGATGA	0.468000													4	65					0	0	0.000248	0	0
KCNA4	3739	broad.mit.edu	37	11	30033979	30033979	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:30033979G>C	ENST00000328224.6	-	2	1480	c.247C>G	c.(247-249)Cgg>Ggg	p.R83G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTCCTCCTCCGACTACCCCGG	0.632000													4	81					0	0	0.000248	0	0
GIP	2695	broad.mit.edu	37	17	47041687	47041687	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:47041687T>C	ENST00000357424.2	-	3	342	c.242A>G	c.(241-243)aAg>aGg	p.K81R		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	81					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CTTCTTCCCCTTTTGGGCCAG	0.562000													3	119					0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10298660	10298660	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:10298660C>G	ENST00000403437.2	-	34	4846	c.4752G>C	c.(4750-4752)gaG>gaC	p.E1584D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1584					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTCAATTTCCTCATCCTTTT	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	58					0	0	0.006214	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470492	161470492	+	Missense_Mutation	SNP	G	G	C	rs111941258		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:161470492G>C	ENST00000392142.4	+	3	1336	c.1188G>C	c.(1186-1188)tgG>tgC	p.W396C	MAP3K4_ENST00000366919.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.W396C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	396					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTGTTTGTGGTTAAACATCA	0.403000													10	54					0	0	0.006214	0	0
ATRN	8455	broad.mit.edu	37	20	3605205	3605205	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:3605205C>T	ENST00000262919.5	+	25	3917	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1283					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TACAGTTCTTCGTGACTTTCT	0.388000													34	197					0	0	0.003271	0	0
JAG2	3714	broad.mit.edu	37	14	105609208	105609208	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:105609208C>T	ENST00000331782.3	-	26	3944	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K	JAG2_ENST00000347004.2_Missense_Mutation_p.E1143K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1181					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCAGATCCTCGTCCTCCTCA	0.701000													19	13					0	0	0.007413	0	0
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577000													41	28					0	0	0.006999	0	0
NOB1	28987	broad.mit.edu	37	16	69782153	69782153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:69782153C>T	ENST00000268802.5	-	7	835	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	269						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522000													5	41					0	0	0.001984	0	0
TBX21	30009	broad.mit.edu	37	17	45820480	45820480	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:45820480G>A	ENST00000177694.1	+	3	901	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	230					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACAGGAGCGCACTGGATGC	0.552000													34	56					0	0	0.002445	0	0
WNK1	65125	broad.mit.edu	37	12	978050	978050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:978050C>T	ENST00000537687.1	+	9	3801	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1138F|WNK1_ENST00000574564.1_Missense_Mutation_p.S352F|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	808					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCAGTGATTCCTCACAAATC	0.488000													6	244					0	0	0.001168	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498721	73498721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:73498721C>T	ENST00000321617.3	-	18	3020	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E730K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	812	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCCCCCTCAGCATCCCCC	0.692000													10	3					0	0	0.001368	0	0
MIOS	54468	broad.mit.edu	37	7	7613368	7613368	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:7613368C>T	ENST00000340080.4	+	4	1683	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	MIOS_ENST00000405785.1_Missense_Mutation_p.P421L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	421										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAAGATCCACAGCTCAAG	0.408000													19	81					0	0	0.008871	0	0
CD28	940	broad.mit.edu	37	2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:204594418T>C	ENST00000374481.3	+	4	427	c.205T>C	c.(205-207)Ttt>Ctt	p.F69L	CD28_ENST00000324106.7_Missense_Mutation_p.F153L|CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L			P10747	CD28_HUMAN	CD28 molecule	153	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443000													3	129					0	0	0.004672	0	0
JPH3	57338	broad.mit.edu	37	16	87724057	87724057	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:87724057C>T	ENST00000284262.2	+	4	2333	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	697					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACTTGACCTTCTCCCCGCCCC	0.672000													8	6					0	0	0.004482	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554958	136554958	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:136554958A>T	ENST00000355849.5	+	3	679	c.269A>T	c.(268-270)gAa>gTa	p.E90V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	90	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTACAAGAAGAAACCTTGACA	0.363000													6	63					0	0	0.001168	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	47					0	0	0.000248	0	0
TUBD1	51174	broad.mit.edu	37	17	57958324	57958324	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:57958324C>T	ENST00000325752.3	-	4	745	c.468G>A	c.(466-468)caG>caA	p.Q156Q	TUBD1_ENST00000340993.6_Silent_p.Q156Q|TUBD1_ENST00000394239.3_Silent_p.Q156Q|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000592426.1_Silent_p.Q156Q|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Silent_p.Q156Q	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	156					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTTCTAAATTCTGTGTAACGA	0.383000													21	93					0	0	0.001523	0	0
LDB3	11155	broad.mit.edu	37	10	88451696	88451696	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:88451696G>A	ENST00000429277.2	+	7	1082	c.937G>A	c.(937-939)Gtc>Atc	p.V313I	LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372066.3_Missense_Mutation_p.V198I|LDB3_ENST00000458213.2_Missense_Mutation_p.V198I|LDB3_ENST00000372056.4_Missense_Mutation_p.V313I|LDB3_ENST00000310944.6_Missense_Mutation_p.V245I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Missense_Mutation_p.V245I|LDB3_ENST00000263066.6_Missense_Mutation_p.V198I	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	302						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CGCCTCTCCCGTCTACCAGGC	0.602000													6	107					0	0	0.001168	0	0
PHF19	26147	broad.mit.edu	37	9	123632758	123632758	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:123632758C>T	ENST00000373896.3	-	4	579	c.327G>A	c.(325-327)ccG>ccA	p.P109P	PHF19_ENST00000312189.6_Silent_p.P109P	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCATTCAGCGGCCCTGATG	0.627000													24	183					0	0	0.003330	0	0
CUL4B	8450	broad.mit.edu	37	X	119666336	119666336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:119666336C>G	ENST00000371322.5	-	18	2441	c.2380G>C	c.(2380-2382)Gat>Cat	p.D794H	CUL4B_ENST00000404115.3_Missense_Mutation_p.D812H|CUL4B_ENST00000336592.6_Missense_Mutation_p.D799H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	812					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGAAATCATCATTACAAATG	0.368000													15	45					0	0	0.002450	0	0
NOTCH3	4854	broad.mit.edu	37	19	15272483	15272483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:15272483C>A	ENST00000263388.2	-	33	6031	c.5956G>T	c.(5956-5958)Gag>Tag	p.E1986*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1986					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGGCAGCCTCATAGCTGCCC	0.627000													3	13					0.004672	0.00519111	0.004672	1	0
WDFY3	23001	broad.mit.edu	37	4	85752750	85752750	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:85752750C>T	ENST00000322366.6	-	8	992	c.585G>A	c.(583-585)gtG>gtA	p.V195V	WDFY3_ENST00000295888.4_Silent_p.V195V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	195						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCACAGTTTCactaagatct	0.388000													18	41					0	0	0.004990	0	0
GRIA3	2892	broad.mit.edu	37	X	122459926	122459926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:122459926G>T	ENST00000264357.5	+	4	850	c.558G>T	c.(556-558)tgG>tgT	p.W186C	GRIA3_ENST00000371251.1_Missense_Mutation_p.W186C|GRIA3_ENST00000371256.5_Missense_Mutation_p.W186C|GRIA3_ENST00000541091.1_Missense_Mutation_p.W170C|GRIA3_ENST00000542149.1_Missense_Mutation_p.W186C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	186					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAAACAACTGGCAAGTAACAG	0.418000													15	46					0.000308642	0.000349794	0.003163	1	0
SCAND3	114821	broad.mit.edu	37	6	28554410	28554410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:28554410C>T	ENST00000452236.2	-	1	702	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	29					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGGTCTTCTTCTTTAACCTTT	0.502000													18	45					0	0	0.006122	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414914	14414914	+	RNA	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr21:14414914G>A	ENST00000507941.1	+	0	95																											CCTTGATGGCGAAAACAGGAC	0.428000													6	24					0	0	0.004482	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436124	8436124	+	Splice_Site	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:8436124G>A	ENST00000301455.2	+	6	928		c.e6-1		ANGPTL4_ENST00000393962.2_Splice_Site|ANGPTL4_ENST00000541807.1_Splice_Site	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4						angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCCCACTCCAGGCGAGTTCTG	0.647000													17	39					0	0	0.004007	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687181	68687181	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:68687181G>A	ENST00000361320.4	+	2	1085	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	169						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTAACTCCCTGAGAACCATCC	0.488000													27	90					0	0	0.005443	0	0
ZNF626	199777	broad.mit.edu	37	19	20807482	20807482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:20807482C>A	ENST00000601440.1	-	4	1347	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398000													22	70					2.27731e-05	2.70729e-05	0.001882	1	0
TJP1	7082	broad.mit.edu	37	15	30011211	30011211	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:30011211G>A	ENST00000346128.6	-	21	3609	c.3135C>T	c.(3133-3135)taC>taT	p.Y1045Y	TJP1_ENST00000400011.2_Silent_p.Y969Y|TJP1_ENST00000545208.2_Silent_p.Y965Y|TJP1_ENST00000356107.6_Silent_p.Y1045Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1045					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTTTCTCTACGTATGGGAGTT	0.502000													73	172					0	0	0.003610	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698126	153698126	+	Splice_Site	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:153698126C>T	ENST00000369682.3	+	28	4969	c.4795_splice	c.e28+1	p.Y1598_splice	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1598					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCCGCTACGGTAGGTGTC	0.582000													17	49					0	0	0.004990	0	0
TMEM145	284339	broad.mit.edu	37	19	42819348	42819348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:42819348G>A	ENST00000598766.1	+	7	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K	TMEM145_ENST00000301204.3_Missense_Mutation_p.E172K			Q8NBT3	TM145_HUMAN	transmembrane protein 145	172						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGGGATCCTGGAGACAGATGT	0.532000													18	40					0	0	0.004990	0	0
ADAM29	11086	broad.mit.edu	37	4	175897109	175897109	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:175897109T>A	ENST00000359240.3	+	5	1103	c.433T>A	c.(433-435)Ttt>Att	p.F145I	ADAM29_ENST00000514159.1_Missense_Mutation_p.F145I|ADAM29_ENST00000445694.1_Missense_Mutation_p.F145I|ADAM29_ENST00000404450.4_Missense_Mutation_p.F145I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	145					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCTACCACGTTTGAACATCT	0.383000													16	44					0	0	0.003163	0	0
IL19	29949	broad.mit.edu	37	1	207010066	207010066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:207010066T>C	ENST00000270218.6	+	3	998	c.59T>C	c.(58-60)gTa>gCa	p.V20A	IL19_ENST00000340758.2_Missense_Mutation_p.V58A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	20					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGTGCTCAGTAGACAACCAC	0.468000													4	223					0	0	0.000248	0	0
LAMA2	3908	broad.mit.edu	37	6	129724979	129724979	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:129724979G>T	ENST00000421865.2	+	40	5789	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1914	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTTGATGAGGCTAAAAACAT	0.398000													12	26					2.31682e-05	2.73514e-05	0.003163	1	0
DCX	1641	broad.mit.edu	37	X	110644290	110644290	+	Silent	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:110644290G>C	ENST00000338081.3	-	3	1047	c.876C>G	c.(874-876)ctC>ctG	p.L292L	DCX_ENST00000356915.2_Silent_p.L211L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.L211L|DCX_ENST00000356220.3_Silent_p.L211L|DCX_ENST00000371993.2_Silent_p.L211L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	292	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGATATCAGTGAGGACTTGCT	0.493000													62	100					0	0	0.003610	0	0
ATP2B4	493	broad.mit.edu	37	1	203678644	203678644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:203678644G>C	ENST00000357681.5	+	11	2896	c.1773G>C	c.(1771-1773)aaG>aaC	p.K591N	ATP2B4_ENST00000341360.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.K591N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K579N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	591					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACAGCAAGGGCGCCTCTG	0.557000													7	74					0	0	0.006214	0	0
NLGN1	22871	broad.mit.edu	37	3	173997073	173997073	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:173997073G>C	ENST00000457714.1	+	6	1711	c.1282G>C	c.(1282-1284)Ggc>Cgc	p.G428R	NLGN1_ENST00000545397.1_Missense_Mutation_p.G428R|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.G428R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G468R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	445					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATATCCTGAAGGCAAAGATGT	0.343000													6	90					0	0	0.001984	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971267	101971267	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:101971267C>T	ENST00000543253.1	+	5	2389	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	GPRASP2_ENST00000332262.5_Silent_p.T490T|GPRASP2_ENST00000535209.1_Silent_p.T490T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCCCCAAACCTGGGACGAGG	0.507000													30	121					0	0	0.002096	0	0
TMC8	147138	broad.mit.edu	37	17	76134756	76134756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:76134756G>C	ENST00000318430.5	+	14	2140	c.1766G>C	c.(1765-1767)cGt>cCt	p.R589P	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R366P	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	589						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ATTGGCCAGCGTGCCCTCCAC	0.667000													7	65					0	0	0.001984	0	0
ZNF202	7753	broad.mit.edu	37	11	123597653	123597653	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:123597653C>G	ENST00000336139.4	-	8	1361	c.999G>C	c.(997-999)ctG>ctC	p.L333L	ZNF202_ENST00000530393.1_Silent_p.L333L|ZNF202_ENST00000529691.1_Silent_p.L333L			O95125	ZN202_HUMAN	zinc finger protein 202	333					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCCAAACTCAGATCTTCCT	0.463000													9	226					0	0	0.004482	0	0
MBOAT7	79143	broad.mit.edu	37	19	54678113	54678113	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:54678113G>A	ENST00000245615.1	-	8	1524	c.1044C>T	c.(1042-1044)acC>acT	p.T348T	MBOAT7_ENST00000338624.6_Silent_p.T275T|MBOAT7_ENST00000431666.2_Silent_p.T275T	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	348					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGCAGCATGGTCCAGGCGC	0.687000													11	25					0	0	0.008291	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520157	159520157	+	Silent	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr5:159520157G>C	ENST00000456329.3	-	2	1534	c.1500C>G	c.(1498-1500)ggC>ggG	p.G500G	PWWP2A_ENST00000307063.7_Silent_p.G500G|PWWP2A_ENST00000523662.1_Silent_p.G500G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	500										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCCATCTTGCCACTCCGCA	0.537000													5	21					0	0	0.000602	0	0
BTBD11	121551	broad.mit.edu	37	12	108006645	108006645	+	Splice_Site	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:108006645A>G	ENST00000280758.5	+	6	2426	c.1899_splice	c.e6+1	p.E633_splice	BTBD11_ENST00000490090.2_Splice_Site_p.E633_splice|BTBD11_ENST00000420571.2_Splice_Site_p.E633_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Splice_Site_p.E170_splice	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	633						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGAATGTGGAGGTGAGGGTG	0.632000													6	5					0	0	0.001984	0	0
BBX	56987	broad.mit.edu	37	3	107497345	107497345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:107497345G>T	ENST00000415149.2	+	13	2509	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	BBX_ENST00000416476.2_Missense_Mutation_p.Q391H|BBX_ENST00000325805.8_Nonsense_Mutation_p.E728*|BBX_ENST00000402543.1_Nonsense_Mutation_p.E728*|BBX_ENST00000406780.1_Nonsense_Mutation_p.E728*|BBX_ENST00000473542.1_3'UTR	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	728	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTGTCCTCAGAACCGACTAA	0.438000													5	71					3.59834e-05	4.16134e-05	0.001168	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359366	64359366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:64359366C>T	ENST00000377574.1	+	1	1085	c.338C>T	c.(337-339)aCg>aTg	p.T113M	SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113M|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113M|SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113M|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GAGGCCGACACGGAGCCGTGT	0.672000													18	27					0	0	0.008871	0	0
OR2L2	26246	broad.mit.edu	37	1	248201955	248201955	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:248201955T>C	ENST00000366479.2	+	1	482	c.386T>C	c.(385-387)cTc>cCc	p.L129P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTTTCCTCTCCACTATCCC	0.433000													6	179					0	0	0.001984	0	0
FAM184A	79632	broad.mit.edu	37	6	119341142	119341142	+	Splice_Site	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:119341142C>T	ENST00000338891.7	-	4	1776		c.e4+1		FAM184A_ENST00000352896.5_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTACTTTTTACCTTCTCCAGT	0.398000													7	60					0	0	0.001984	0	0
IRS4	8471	broad.mit.edu	37	X	107978579	107978579	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:107978579A>G	ENST00000372129.2	-	1	1072	c.996T>C	c.(994-996)tgT>tgC	p.C332C		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	332	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATTCGTCTGCACACAAGGCTC	0.587000													100	199					0	0	0.003610	0	0
VPS33B	26276	broad.mit.edu	37	15	91544674	91544674	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:91544674A>C	ENST00000333371.3	-	19	1777	c.1424T>G	c.(1423-1425)tTc>tGc	p.F475C	VPS33B_ENST00000535843.1_Missense_Mutation_p.F384C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F448C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	475					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAGAGAACTGAAGGCATCAGT	0.463000													7	65					0	0	0.001984	0	0
CCL23	6368	broad.mit.edu	37	17	34340342	34340342	+	Silent	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:34340342G>T	ENST00000293280.2	-	4	379	c.309C>A	c.(307-309)ctC>ctA	p.L103L	CCL23_ENST00000591423.1_Silent_p.L86L	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	86					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CCTTCTTGGTGAGGAAGCTAG	0.542000													9	15					7.48243e-07	9.15117e-07	0.006214	1	0
ZNF208	7757	broad.mit.edu	37	19	22154781	22154781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:22154781G>T	ENST00000397126.4	-	4	3203	c.3055C>A	c.(3055-3057)Cat>Aat	p.H1019N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGTTCCATAAGG	0.408000													20	62					5.35267e-07	6.59386e-07	0.007413	1	0
KLHL4	56062	broad.mit.edu	37	X	86888820	86888820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:86888820G>A	ENST00000373119.4	+	8	1766	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E541K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	541						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAATACTGTAGAAAGATGGGA	0.413000													4	59					0	0	0.000248	0	0
LINGO4	339398	broad.mit.edu	37	1	151774300	151774300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:151774300C>T	ENST00000368820.3	-	2	1818	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	294						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGCCTTCGGGCTGGGAT	0.622000													22	56					0	0	0.001882	0	0
PEF1	553115	broad.mit.edu	37	1	32098207	32098207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:32098207C>T	ENST00000373703.4	-	4	536	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	172	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCGTAGACATCGATGCGGCCT	0.557000													14	32					0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408273	105408273	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:105408273G>T	ENST00000333244.5	-	7	13634	c.13515C>A	c.(13513-13515)gaC>gaA	p.D4505E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4505						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGTCTTGAGGTCCCCCTGCA	0.612000													7	264					8.12818e-05	9.33643e-05	0.001984	1	0
BRF2	55290	broad.mit.edu	37	8	37702008	37702008	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:37702008T>C	ENST00000220659.6	-	4	1380	c.1260A>G	c.(1258-1260)tgA>tgG	p.*420W	GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TGGATATCCATCAGGGAGGGT	0.488000													15	44					0	0	0.002450	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													6	55					0	0	0.001168	0	0
TTC23L	153657	broad.mit.edu	37	5	34845770	34845770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr5:34845770G>A	ENST00000505624.1	+	3	350	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	83							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GCTGATTAAGGAAAAAATGGT	0.358000													3	28					0	0	0.004672	0	0
TSSK2	23617	broad.mit.edu	37	22	19118994	19118994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:19118994T>C	ENST00000399635.2	+	1	674	c.82T>C	c.(82-84)Tct>Cct	p.S28P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	28	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AAAAGTCAAATCTGCCTACTC	0.507000													14	34					0	0	0.002450	0	0
ALG13	79868	broad.mit.edu	37	X	110979971	110979971	+	Silent	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:110979971T>C	ENST00000394780.3	+	23	2571	c.2559T>C	c.(2557-2559)gcT>gcC	p.A853A	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.A749A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	853					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CAGTTGCAGCTTCCTGTGCCA	0.403000													21	171					0	0	0.002780	0	0
SCN3A	6328	broad.mit.edu	37	2	166032739	166032739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:166032739C>G	ENST00000360093.3	-	3	657	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.E56Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E56Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	56						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTCCAGCTTCCAAGTCACTA	0.428000													4	119					0	0	0.000602	0	0
WDR4	10785	broad.mit.edu	37	21	44299570	44299570	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr21:44299570C>G	ENST00000398208.2	-	1	95	c.36G>C	c.(34-36)caG>caC	p.Q12H	WDR4_ENST00000330317.2_Missense_Mutation_p.Q12H	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	12					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCACCAACGTCTGCCCGCACA	0.682000													37	60					0	0	0.007835	0	0
AADAC	13	broad.mit.edu	37	3	151545495	151545495	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:151545495C>G	ENST00000232892.6	+	5	861	c.735C>G	c.(733-735)ctC>ctG	p.L245L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	245					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCAAATCACTCATGGTCAGAT	0.363000													19	58					0	0	0.007413	0	0
DDC	1644	broad.mit.edu	37	7	50611693	50611693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:50611693G>T	ENST00000444124.2	-	2	291	c.91C>A	c.(91-93)Cct>Act	p.P31T	DDC_ENST00000380984.4_Missense_Mutation_p.P31T|DDC_ENST00000431062.1_Missense_Mutation_p.P31T|DDC_ENST00000426377.1_Missense_Mutation_p.P31T|DDC_ENST00000357936.5_Missense_Mutation_p.P31T	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	31					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCCACGTCAGGGTAGACCTGG	0.567000													28	253					1.61788e-16	2.02235e-16	0.002445	1	0
SBF1	6305	broad.mit.edu	37	22	50897810	50897810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:50897810C>A	ENST00000380817.2	-	28	3883	c.3700G>T	c.(3700-3702)Gcg>Tcg	p.A1234S	SBF1_ENST00000390679.3_Missense_Mutation_p.A1234S|SBF1_ENST00000348911.6_Missense_Mutation_p.A1235S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1234	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGAGTCCGCCTGGGACTGG	0.667000													16	18					0.00316338	0.00353799	0.003163	1	0
PLXND1	23129	broad.mit.edu	37	3	129281955	129281955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:129281955G>T	ENST00000393239.1	-	26	4828	c.4650C>A	c.(4648-4650)aaC>aaA	p.N1550K	PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGCCTCGATGTTCTCCCGCA	0.637000													17	23					3.45872e-05	4.05505e-05	0.004007	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			20	43					0	0	0.001882	0	0
ADAM28	10863	broad.mit.edu	37	8	24184140	24184140	+	Missense_Mutation	SNP	G	G	A	rs139736903	byFrequency	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:24184140G>A	ENST00000265769.4	+	10	1074	c.964G>A	c.(964-966)Gtt>Att	p.V322I	ADAM28_ENST00000397649.3_Missense_Mutation_p.V69I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.V322I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.V89I|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	322	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCTGTTGGCGTTGTTCAGGT	0.338000													4	118					0	0	0.000602	0	0
AKAP14	158798	broad.mit.edu	37	X	119054501	119054501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:119054501G>T	ENST00000371431.3	+	7	799	c.525G>T	c.(523-525)tgG>tgT	p.W175C	AKAP14_ENST00000371425.4_Missense_Mutation_p.W115C|AKAP14_ENST00000334356.2_Missense_Mutation_p.W115C|AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000371423.2_Missense_Mutation_p.W116C	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	175						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GAGAAAACTGGCAGAAGAATC	0.338000													19	39					1.15919e-05	1.38776e-05	0.008871	1	0
BEST3	144453	broad.mit.edu	37	12	70048856	70048856	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:70048856G>C	ENST00000330891.5	-	10	2064	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	BEST3_ENST00000488961.1_Missense_Mutation_p.S400C|BEST3_ENST00000553096.1_Missense_Mutation_p.S507C|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	613						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCTGGCTGAGAGCTCATGGG	0.488000													18	32					0	0	0.004990	0	0
CFHR4	10877	broad.mit.edu	37	1	196874379	196874379	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:196874379C>A	ENST00000367416.2	+	3	532	c.395C>A	c.(394-396)aCa>aAa	p.T132K	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATCAATTACATGTTTGCAA	0.328000													5	94					3.59834e-05	4.16134e-05	0.001168	1	0
ATRN	8455	broad.mit.edu	37	20	3575209	3575209	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:3575209G>A	ENST00000262919.5	+	20	3474	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	ATRN_ENST00000446916.2_Missense_Mutation_p.E1136K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1136	Laminin EGF-like 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGGGGACGAGTGCCAGCT	0.597000													14	57					0	0	0.002450	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164140	85164140	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:85164140C>T	ENST00000448803.2	+	3	1006	c.714C>T	c.(712-714)atC>atT	p.I238I	ZSCAN2_ENST00000546148.1_Silent_p.I238I|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000358472.3_Silent_p.I88I|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	238					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I238I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCACCTCATCACACACGAGA	0.493000													10	74					0	0	0.008291	0	0
DENND2D	79961	broad.mit.edu	37	1	111730992	111730992	+	Splice_Site	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:111730992G>C	ENST00000357640.4	-	11	1329	c.1099_splice	c.e11-1	p.T367_splice	DENND2D_ENST00000369752.5_Splice_Site_p.T364_splice	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	367										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGTTCTGCAGCTGCAGGAGA	0.483000													20	44					0	0	0.008871	0	0
CHIC1	53344	broad.mit.edu	37	X	72797282	72797282	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:72797282C>G	ENST00000373504.6	+	2	421	c.336C>G	c.(334-336)tcC>tcG	p.S112S	CHIC1_ENST00000373502.5_Silent_p.S112S			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					AATTTCCCTCCGTTCTAACAG	0.343000													18	138					0	0	0.008871	0	0
LCN1	3933	broad.mit.edu	37	9	138415134	138415134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:138415134G>A	ENST00000263598.2	+	3	338	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LCN1_ENST00000371781.3_Missense_Mutation_p.G93E	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	93					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GACGAGCCGGGAAAATACACG	0.632000													5	45					0	0	0.001168	0	0
DAXX	1616	broad.mit.edu	37	6	33289647	33289647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:33289647G>A	ENST00000374542.5	-	2	260	c.56C>T	c.(55-57)gCt>gTt	p.A19V	DAXX_ENST00000266000.6_Missense_Mutation_p.A19V|DAXX_ENST00000414083.2_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	19	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGGCTGAGCAGCTGCTTCATC	0.602000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	137					0	0	0.000248	0	0
OR2A2	442361	broad.mit.edu	37	7	143806750	143806750	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:143806750C>G	ENST00000408979.2	+	1	144	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGCGATTCTCCTCTGTGGAC	0.517000													8	168					0	0	0.004482	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137416	40137416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:40137416C>T	ENST00000278198.2	-	2	2390	c.427G>A	c.(427-429)Gct>Act	p.A143T	LRRC4C_ENST00000527150.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A143T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	143					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TATACAAAAGCTCCATTCGGG	0.438000													23	53					0	0	0.002299	0	0
JPH4	84502	broad.mit.edu	37	14	24040391	24040391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:24040391C>G	ENST00000397118.3	-	6	2451	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	JPH4_ENST00000544177.1_Missense_Mutation_p.E182Q|JPH4_ENST00000356300.4_Missense_Mutation_p.E517Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	517					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ATCCCAGCCTCATCCTCAGCC	0.647000													18	164					0	0	0.006122	0	0
PRPS1	5631	broad.mit.edu	37	X	106888430	106888430	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:106888430T>C	ENST00000372435.4	+	5	676	c.554T>C	c.(553-555)cTg>cCg	p.L185P	PRPS1_ENST00000372428.4_Missense_Mutation_p.L118P|PRPS1_ENST00000543248.1_Missense_Mutation_p.L185P|PRPS1_ENST00000372418.1_Missense_Mutation_p.L85P	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	185					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GCAGACAGGCTGAATGTGGAC	0.502000													9	286					0	0	0.004482	0	0
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	A	rs139029496		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:99002548C>A	ENST00000350498.3	-	2	322	c.42G>T	c.(40-42)gcG>gcT	p.A14A		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TATACTGCCTCGCCCGGCCTT	0.632000													16	56					0.000422831	0.000476035	0.004007	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55284979	55284979	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:55284979C>T	ENST00000336077.6	+	3	305	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89C	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCATCAGTCGCATGACGCA	0.532000													5	265					0	0	0.001168	0	0
INSC	387755	broad.mit.edu	37	11	15222416	15222416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:15222416T>G	ENST00000379554.3	+	7	927	c.881T>G	c.(880-882)tTc>tGc	p.F294C	INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Missense_Mutation_p.F247C|INSC_ENST00000379556.3_Missense_Mutation_p.F247C|INSC_ENST00000424273.1_Intron|INSC_ENST00000530161.1_Missense_Mutation_p.F247C|INSC_ENST00000447214.2_Intron	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	294					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGGACAGTTTCCGGTGCTTG	0.587000													3	45					0	0	0.004672	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931144	94931144	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:94931144T>C	ENST00000337425.5	-	4	1078	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	SERPINA9_ENST00000380365.3_Missense_Mutation_p.N317S|SERPINA9_ENST00000298845.7_Missense_Mutation_p.N235S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.N186S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.N299S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.N237S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	317					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.N335S(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGTTTCCAGATTGTAGGAGGC	0.448000													24	45					0	0	0.003954	0	0
CBX2	84733	broad.mit.edu	37	17	77753183	77753183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:77753183G>T	ENST00000310942.4	+	3	243	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CBX2_ENST00000269399.5_Nonsense_Mutation_p.E47*	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	47	Chromo.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCGGAGGAGAACATCCT	0.632000													19	12					8.00594e-06	9.65255e-06	0.007413	1	0
PSAP	5660	broad.mit.edu	37	10	73590951	73590951	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:73590951A>C	ENST00000394936.3	-	4	454	c.307T>G	c.(307-309)Tct>Gct	p.S103A	PSAP_ENST00000394934.1_Missense_Mutation_p.S103A			P07602	SAP_HUMAN	prosaposin	103	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CATGAAGCAGACATGTTCGGT	0.483000													30	62					0	0	0.006320	0	0
NLRP13	126204	broad.mit.edu	37	19	56424476	56424476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:56424476C>T	ENST00000588751.1	-	5	731	c.707G>A	c.(706-708)aGg>aAg	p.R236K	NLRP13_ENST00000342929.3_Missense_Mutation_p.R236K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACCCCTGCCCTCCCCACCAA	0.507000													4	130					0	0	0.000248	0	0
SYDE2	84144	broad.mit.edu	37	1	85666170	85666170	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:85666170G>A	ENST00000341460.5	-	1	559	c.510C>T	c.(508-510)ggC>ggT	p.G170G		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	170					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGTCTCCTTTGCCACTGCGTA	0.642000													31	51					0	0	0.007291	0	0
MUC6	4588	broad.mit.edu	37	11	1026050	1026050	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:1026050C>G	ENST00000421673.2	-	21	2688	c.2638G>C	c.(2638-2640)Gac>Cac	p.D880H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	880	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCTGGCCGTCGAAGGTGATG	0.677000													3	7					0	0	0.000248	0	0
FLG	2312	broad.mit.edu	37	1	152285104	152285104	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:152285104T>A	ENST00000368799.1	-	3	2293	c.2258A>T	c.(2257-2259)cAt>cTt	p.H753L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTCTGAATGTCCCTCACT	0.582000									Ichthyosis				15	785					0	0	0.002450	0	0
SLC39A8	64116	broad.mit.edu	37	4	103226195	103226195	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:103226195A>T	ENST00000424970.2	-	5	941	c.626T>A	c.(625-627)cTt>cAt	p.L209H	SLC39A8_ENST00000394833.2_Missense_Mutation_p.L209H|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L209H|SLC39A8_ENST00000510255.1_5'UTR	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	209						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAAAAAGAAAAGTAGGTAAAA	0.348000													6	32					0	0	0.001168	0	0
RALGAPB	57148	broad.mit.edu	37	20	37202933	37202933	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:37202933G>A	ENST00000262879.6	+	29	4567	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1425Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1207Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1428Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1428					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGCAGGCGAGCTCTTGGT	0.358000													9	154					0	0	0.006214	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835171	60835171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:60835171C>G	ENST00000313733.3	+	3	374	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q46E|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	58					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAACGGAATTCAGAAACACAG	0.453000													18	58					0	0	0.006122	0	0
ASXL1	171023	broad.mit.edu	37	20	31023531	31023531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:31023531G>T	ENST00000375687.4	+	13	3440	c.3016G>T	c.(3016-3018)Gaa>Taa	p.E1006*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E1001*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1006					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCTGACTTTGAAGGTCACCT	0.502000			"""F, N, Mis"""		"""MDS, CMML"""								32	53					8.16721e-17	1.02846e-16	0.002096	1	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	61					0	0	0.004672	0	0
EPAS1	2034	broad.mit.edu	37	2	46605175	46605175	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:46605175C>T	ENST00000263734.3	+	10	1902	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	464					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGCTGCCCCGGGCAGCA	0.682000													3	11					0	0	0.004672	0	0
ADCY1	107	broad.mit.edu	37	7	45725669	45725669	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:45725669C>T	ENST00000297323.7	+	13	2204	c.2182C>T	c.(2182-2184)Cac>Tac	p.H728Y		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	728					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CGAGTCTACACACCATGCCCT	0.637000													16	61					0	0	0.004007	0	0
KDM6A	7403	broad.mit.edu	37	X	44949094	44949094	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:44949094T>A	ENST00000377967.4	+	25	3696	c.3655T>A	c.(3655-3657)Tgg>Agg	p.W1219R	KDM6A_ENST00000382899.4_Missense_Mutation_p.W1226R|KDM6A_ENST00000536777.1_Missense_Mutation_p.W1174R|KDM6A_ENST00000543216.1_Missense_Mutation_p.W1140R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1219	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGATTTGGTCTGGATAAATGC	0.408000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								7	34					0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513062	69513062	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr4:69513062A>G	ENST00000338206.5	-	6	1362	c.1353T>C	c.(1351-1353)caT>caC	p.H451H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	451					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGGTTGGTCATGATGAATTC	0.388000													21	103					0	0	0.001523	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837210	12837210	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:12837210C>G	ENST00000357726.4	+	3	947	c.920C>G	c.(919-921)tCg>tGg	p.S307W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	307										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCAGAGTCGGACCTGAAG	0.557000													45	127					0	0	0.002222	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594660	61594660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:61594660C>T	ENST00000370349.3	+	7	850	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	SLC17A9_ENST00000370351.4_Missense_Mutation_p.R222W|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	222					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCCCAAAGCCGGCCGGTGTC	0.637000													19	42					0	0	0.001882	0	0
ARSJ	79642	broad.mit.edu	37	4	114823767	114823767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr4:114823767G>C	ENST00000315366.7	-	2	2329	c.1463C>G	c.(1462-1464)tCa>tGa	p.S488*	ARSJ_ENST00000541197.1_Nonsense_Mutation_p.S488*	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	488						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTTGCCAGTTGACAAGGTGAT	0.512000													33	61					0	0	0.002096	0	0
TNC	3371	broad.mit.edu	37	9	117808854	117808854	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr9:117808854T>G	ENST00000350763.4	-	17	5371	c.4960A>C	c.(4960-4962)Atc>Ctc	p.I1654L	TNC_ENST00000542877.1_Missense_Mutation_p.I1291L|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.I1199L|TNC_ENST00000346706.3_Missense_Mutation_p.I1108L|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1472L|TNC_ENST00000423613.2_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.I1290L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1654	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTATCTCTGATTTTGAGAACA	0.493000													43	135					0	0	0.006999	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032187	26032187	+	Silent	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:26032187G>T	ENST00000244661.2	-	1	101	c.102C>A	c.(100-102)ggC>ggA	p.G34G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	34					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTTCACGCCGCCGGTAGCCG	0.627000													16	138					4.7546e-09	5.87333e-09	0.004007	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50671941	50671941	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr22:50671941C>T	ENST00000439308.2	-	3	1412	c.920G>A	c.(919-921)aGa>aAa	p.R307K	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R307K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	307					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCTCCTCTCTGTGGCCAGG	0.637000													3	12					0	0	0.004672	0	0
AADACL4	343066	broad.mit.edu	37	1	12726525	12726525	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:12726525C>G	ENST00000376221.1	+	4	1003	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	335						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCATCGCTCAGCTTCCTGA	0.517000													10	106					0	0	0.006214	0	0
IQGAP3	128239	broad.mit.edu	37	1	156532415	156532415	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:156532415G>C	ENST00000361170.2	-	9	851	c.841C>G	c.(841-843)Cag>Gag	p.Q281E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	281					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.Q281K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTCAGCCTGAGTTAGGTAG	0.507000													49	135					0	0	0.003610	0	0
TTC25	83538	broad.mit.edu	37	17	40093075	40093075	+	RNA	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:40093075G>A	ENST00000591658.1	+	0	588							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CACCAAGGGAGAGCCCAAGTG	0.522000													26	68					0	0	0.003330	0	0
PAQR8	85315	broad.mit.edu	37	6	52268776	52268776	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577000													23	52					0	0	0.003954	0	0
GRM7	2917	broad.mit.edu	37	3	6903352	6903352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:6903352C>T	ENST00000486284.1	+	1	551	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	GRM7_ENST00000403881.1_Missense_Mutation_p.P93S|GRM7_ENST00000357716.4_Missense_Mutation_p.P93S|GRM7_ENST00000402647.2_Missense_Mutation_p.P93S|GRM7_ENST00000389336.4_Missense_Mutation_p.P93S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	93					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAACAGTGATCCCAACCTACT	0.607000													11	7					0	0	0.008291	0	0
MARS2	92935	broad.mit.edu	37	2	198571572	198571572	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:198571572G>A	ENST00000282276.6	+	1	1486	c.1443G>A	c.(1441-1443)cgG>cgA	p.R481R	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCTGTGTCCGGCAAACTAATG	0.542000													4	136					0	0	0.000248	0	0
JARID2	3720	broad.mit.edu	37	6	15501599	15501599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:15501599G>A	ENST00000341776.2	+	8	2651	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	JARID2_ENST00000541660.1_Missense_Mutation_p.D765N|JARID2_ENST00000397311.3_Missense_Mutation_p.D631N|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	803					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGAGGAGGAGGACAAAGGCGT	0.587000													5	27					0	0	0.001168	0	0
KIF5A	3798	broad.mit.edu	37	12	57975223	57975223	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:57975223C>T	ENST00000455537.2	+	25	3055	c.2781C>T	c.(2779-2781)taC>taT	p.Y927Y	KIF5A_ENST00000286452.5_Silent_p.Y838Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	927	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGGCCACTACCCAGCATCCT	0.547000													9	72					0	0	0.004482	0	0
INPP4A	3631	broad.mit.edu	37	2	99156130	99156130	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:99156130T>A	ENST00000074304.5	+	10	1203	c.810T>A	c.(808-810)gaT>gaA	p.D270E	INPP4A_ENST00000409540.3_Missense_Mutation_p.D270E|INPP4A_ENST00000545415.1_Missense_Mutation_p.D270E|INPP4A_ENST00000523221.1_Missense_Mutation_p.D270E|INPP4A_ENST00000409851.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.D270E	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	270					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TAGAGGAAGATGCAGCCAGGT	0.562000													3	46					0	0	0.004672	0	0
HSD17B3	3293	broad.mit.edu	37	9	99003167	99003167	+	Missense_Mutation	SNP	G	G	A	rs28939085		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr9:99003167G>A	ENST00000375263.3	-	10	742	c.695C>T	c.(694-696)tCg>tTg	p.S232L	HSD17B3_ENST00000375262.2_Intron|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	232			S -> L (in MPH; dbSNP:rs28939085).		androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CATTGCAGTCGAGACAGCATA	0.433000													13	50					0	0	0.001855	0	0
PLCH1	23007	broad.mit.edu	37	3	155200527	155200527	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:155200527A>G	ENST00000460012.1	-	23	3555	c.3198T>C	c.(3196-3198)ggT>ggC	p.G1066G	PLCH1_ENST00000414191.1_Silent_p.G1066G|PLCH1_ENST00000334686.6_Silent_p.G1066G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.G1104G|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1104					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTTCACACCATGCAGAT	0.473000													49	170					0	0	0.003610	0	0
PTPRN	5798	broad.mit.edu	37	2	220161748	220161748	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:220161748T>C	ENST00000295718.2	-	15	2435	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	PTPRN_ENST00000423636.2_Missense_Mutation_p.E642G|PTPRN_ENST00000409251.3_Missense_Mutation_p.E703G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	732	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGTTGCCCTCCCCCTGCGC	0.637000													3	117					0	0	0.000248	0	0
COMTD1	118881	broad.mit.edu	37	10	76993922	76993922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr10:76993922C>T	ENST00000372538.3	-	7	780	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	233						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GTTTAGGTTTCGCACACACTC	0.682000													23	58					0	0	0.002780	0	0
DSG4	147409	broad.mit.edu	37	18	28968849	28968849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr18:28968849G>A	ENST00000359747.4	+	5	414	c.385G>A	c.(385-387)Gct>Act	p.A129T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A129T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	129	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTATTGCCGGGCTCTGAATTC	0.368000													32	71					0	0	0.005524	0	0
USP19	10869	broad.mit.edu	37	3	49148936	49148936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:49148936C>T	ENST00000453664.1	-	21	3496	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	USP19_ENST00000434032.2_Missense_Mutation_p.E1070K|USP19_ENST00000417901.1_Missense_Mutation_p.E1072K|USP19_ENST00000398888.2_Missense_Mutation_p.E969K|USP19_ENST00000398892.3_Missense_Mutation_p.E1009K|USP19_ENST00000398896.1_Missense_Mutation_p.E777K|USP19_ENST00000398898.2_Missense_Mutation_p.E1009K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	969					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTACCTTCGGGTCGGGAC	0.607000													17	17					0	0	0.006122	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	65					0	0	0.001984	0	0
NSMCE1	197370	broad.mit.edu	37	16	27237111	27237111	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr16:27237111G>A	ENST00000361439.4	-	7	756	c.657C>T	c.(655-657)taC>taT	p.Y219Y	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	219					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TCGACTGGAAGTACTTGGCCA	0.612000													20	48					0	0	0.008871	0	0
ZNF574	64763	broad.mit.edu	37	19	42584413	42584413	+	Missense_Mutation	SNP	G	G	A	rs147085110		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:42584413G>A	ENST00000600245.1	+	2	2310	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.R552Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R642Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGGCCCTACCGGTGTGGGGAC	0.657000													51	87					0	0	0.003610	0	0
ZNF845	91664	broad.mit.edu	37	19	53855637	53855637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:53855637A>G	ENST00000458035.1	+	4	1826	c.1709A>G	c.(1708-1710)cAa>cGa	p.Q570R	ZNF845_ENST00000595091.1_Missense_Mutation_p.Q570R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTACCATCAAGCAATCCAT	0.398000													4	41					0	0	0.000248	0	0
CCDC120	90060	broad.mit.edu	37	X	48921913	48921913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:48921913G>A	ENST00000376396.3	+	6	556	c.337G>A	c.(337-339)Gag>Aag	p.E113K	CCDC120_ENST00000603986.1_Missense_Mutation_p.E148K|CCDC120_ENST00000536628.2_Missense_Mutation_p.E101K|CCDC120_ENST00000597275.1_Missense_Mutation_p.E113K|CCDC120_ENST00000496529.2_Missense_Mutation_p.E113K|CCDC120_ENST00000422185.2_Missense_Mutation_p.E113K	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	113							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GCTGGCTCTTGAGGCCCTGGA	0.677000													4	1					0	0	0.000248	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572217	76572217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr16:76572217C>G	ENST00000307431.8	+	20	3582	c.3197C>G	c.(3196-3198)tCt>tGt	p.S1066C	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994C|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018C|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATACCTTTCTGTGATCATT	0.358000													17	125					0	0	0.004007	0	0
EID2	163126	broad.mit.edu	37	19	40030624	40030624	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:40030624C>T	ENST00000390658.2	-	1	246	c.96G>A	c.(94-96)cgG>cgA	p.R32R		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	32					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GGGCCGGCTCCCGCCTCCCGC	0.751000													15	23					0	0	0.002450	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734834	12734834	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:12734834C>T	ENST00000380682.1	+	15	2762	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	752					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGACGAGGACGAGGTGAGCT	0.582000													6	142					0	0	0.001984	0	0
MYH7B	57644	broad.mit.edu	37	20	33589835	33589835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:33589835G>A	ENST00000262873.7	+	42	5979	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1921						membrane|myosin filament	actin binding|ATP 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)			AGACATGGCGGAAACCCAGGC	0.672000													14	62					0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T	rs137852790		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:7578478G>T	ENST00000420246.2	-	5	584	c.452C>A	c.(451-453)cCc>cAc	p.P151H	TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000269305.4_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and 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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GCCGGGCGGGGGTGTGGAATC	0.607000		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)			39	24					4.07013e-28	5.10285e-28	0.008740	1	0
TRPM1	4308	broad.mit.edu	37	15	31294599	31294599	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr15:31294599T>C	ENST00000542188.1	-	27	4668	c.4355A>G	c.(4354-4356)tAt>tGt	p.Y1452C	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1435C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1413C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1413					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAGGGGATAGGAAATAGT	0.393000													37	74					0	0	0.003271	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885884	20885884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:20885884G>T	ENST00000381552.1	+	10	1596	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G361W|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G292W|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G410W			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	410					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATATTCTCTGGGGGGATAGT	0.383000													16	74					3.52763e-06	4.26361e-06	0.004990	1	0
APBA1	320	broad.mit.edu	37	9	72082878	72082878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr9:72082878C>T	ENST00000265381.4	-	5	1565	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	448	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGCAGGGTCCCGGAACTGT	0.557000													65	154					0	0	0.003610	0	0
CCDC88A	55704	broad.mit.edu	37	2	55528370	55528370	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:55528370A>T	ENST00000436346.1	-	28	5557	c.4716T>A	c.(4714-4716)gaT>gaA	p.D1572E	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1571E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1571E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1544E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D100E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1572					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTAGAATCATCACTAACAC	0.308000													7	24					0	0	0.004482	0	0
MMP2	4313	broad.mit.edu	37	16	55539340	55539340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr16:55539340T>C	ENST00000219070.4	+	13	2478	c.1969T>C	c.(1969-1971)Tgg>Cgg	p.W657R	MMP2_ENST00000570308.1_Missense_Mutation_p.W581R|MMP2_ENST00000543485.1_Missense_Mutation_p.W581R|MMP2_ENST00000437642.2_Missense_Mutation_p.W607R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	657	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAAATCCGACTGGCTAGGCTG	0.567000													8	175					0	0	0.004482	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27824450	27824450	+	Silent	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:27824450T>G	ENST00000318304.8	+	14	1567	c.1284T>G	c.(1282-1284)acT>acG	p.T428T	PPFIBP1_ENST00000228425.6_Silent_p.T411T|PPFIBP1_ENST00000542629.1_Silent_p.T397T|PPFIBP1_ENST00000537927.1_Silent_p.T275T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	428					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAAAGTTGACTCCTAAGCCAG	0.343000													7	71					0	0	0.004482	0	0
RANGAP1	5905	broad.mit.edu	37	22	41652800	41652800	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr22:41652800A>C	ENST00000455915.2	-	7	2272	c.803T>G	c.(802-804)gTg>gGg	p.V268G	RANGAP1_ENST00000407260.4_Missense_Mutation_p.V213G|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V268G|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V268G			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	268					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.V268G(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAATTAATCACCTCCACCTG	0.637000													6	11					0	0	0.001855	0	0
CLCN5	1184	broad.mit.edu	37	X	49854987	49854987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:49854987G>A	ENST00000376088.3	+	13	2600	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	CLCN5_ENST00000376108.3_Missense_Mutation_p.M583I|CLCN5_ENST00000307367.2_Missense_Mutation_p.M583I|CLCN5_ENST00000376091.3_Missense_Mutation_p.M653I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	583					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCCTGGCAATGGATGTGATGA	0.468000													4	65					0	0	0.000248	0	0
KCNA4	3739	broad.mit.edu	37	11	30033979	30033979	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:30033979G>C	ENST00000328224.6	-	2	1480	c.247C>G	c.(247-249)Cgg>Ggg	p.R83G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTCCTCCTCCGACTACCCCGG	0.632000													4	81					0	0	0.000248	0	0
GIP	2695	broad.mit.edu	37	17	47041687	47041687	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:47041687T>C	ENST00000357424.2	-	3	342	c.242A>G	c.(241-243)aAg>aGg	p.K81R		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	81					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CTTCTTCCCCTTTTGGGCCAG	0.562000													3	119					0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10298660	10298660	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:10298660C>G	ENST00000403437.2	-	34	4846	c.4752G>C	c.(4750-4752)gaG>gaC	p.E1584D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1584					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTCAATTTCCTCATCCTTTT	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	58					0	0	0.006214	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470492	161470492	+	Missense_Mutation	SNP	G	G	C	rs111941258		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:161470492G>C	ENST00000392142.4	+	3	1336	c.1188G>C	c.(1186-1188)tgG>tgC	p.W396C	MAP3K4_ENST00000366920.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.W396C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.W396C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	396					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTGTTTGTGGTTAAACATCA	0.403000													10	54					0	0	0.006214	0	0
ADCY5	111	broad.mit.edu	37	3	123167254	123167254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:123167254C>G	ENST00000462833.1	-	1	1351	c.139G>C	c.(139-141)Ggg>Cgg	p.G47R		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	47					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCAGAGCCCCCGGGGGCATGG	0.766000													5	7					0	0	0.000602	0	0
ATRN	8455	broad.mit.edu	37	20	3605205	3605205	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:3605205C>T	ENST00000262919.5	+	25	3917	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1283					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TACAGTTCTTCGTGACTTTCT	0.388000													34	197					0	0	0.003271	0	0
DCX	1641	broad.mit.edu	37	X	110644290	110644290	+	Silent	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:110644290G>C	ENST00000338081.3	-	3	1047	c.876C>G	c.(874-876)ctC>ctG	p.L292L	DCX_ENST00000356915.2_Silent_p.L211L|DCX_ENST00000371993.2_Silent_p.L211L|DCX_ENST00000356220.3_Silent_p.L211L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.L211L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	292	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGATATCAGTGAGGACTTGCT	0.493000													62	100					0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577000													41	28					0	0	0.006999	0	0
NOB1	28987	broad.mit.edu	37	16	69782153	69782153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr16:69782153C>T	ENST00000268802.5	-	7	835	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	269						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522000													5	41					0	0	0.001984	0	0
TBX21	30009	broad.mit.edu	37	17	45820480	45820480	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:45820480G>A	ENST00000177694.1	+	3	901	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	230					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACAGGAGCGCACTGGATGC	0.552000													34	56					0	0	0.002445	0	0
WNK1	65125	broad.mit.edu	37	12	978050	978050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:978050C>T	ENST00000537687.1	+	9	3801	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1138F|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.S352F	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	808					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCAGTGATTCCTCACAAATC	0.488000													6	244					0	0	0.001168	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498721	73498721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:73498721C>T	ENST00000321617.3	-	18	3020	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E730K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	812	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCCCCCTCAGCATCCCCC	0.692000													10	3					0	0	0.001368	0	0
MIOS	54468	broad.mit.edu	37	7	7613368	7613368	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr7:7613368C>T	ENST00000340080.4	+	4	1683	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	MIOS_ENST00000405785.1_Missense_Mutation_p.P421L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	421										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAAGATCCACAGCTCAAG	0.408000													19	81					0	0	0.008871	0	0
CD28	940	broad.mit.edu	37	2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:204594418T>C	ENST00000374481.3	+	4	427	c.205T>C	c.(205-207)Ttt>Ctt	p.F69L	CD28_ENST00000324106.7_Missense_Mutation_p.F153L|CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L			P10747	CD28_HUMAN	CD28 molecule	153	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443000													3	129					0	0	0.004672	0	0
JPH3	57338	broad.mit.edu	37	16	87724057	87724057	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr16:87724057C>T	ENST00000284262.2	+	4	2333	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	697					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACTTGACCTTCTCCCCGCCCC	0.672000													8	6					0	0	0.004482	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554958	136554958	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr8:136554958A>T	ENST00000355849.5	+	3	679	c.269A>T	c.(268-270)gAa>gTa	p.E90V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	90	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTACAAGAAGAAACCTTGACA	0.363000													6	63					0	0	0.001168	0	0
TUBD1	51174	broad.mit.edu	37	17	57958324	57958324	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:57958324C>T	ENST00000325752.3	-	4	745	c.468G>A	c.(466-468)caG>caA	p.Q156Q	TUBD1_ENST00000340993.6_Silent_p.Q156Q|TUBD1_ENST00000592426.1_Silent_p.Q156Q|TUBD1_ENST00000394239.3_Silent_p.Q156Q|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Silent_p.Q156Q	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	156					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTTCTAAATTCTGTGTAACGA	0.383000													21	93					0	0	0.001523	0	0
LDB3	11155	broad.mit.edu	37	10	88451696	88451696	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr10:88451696G>A	ENST00000429277.2	+	7	1082	c.937G>A	c.(937-939)Gtc>Atc	p.V313I	LDB3_ENST00000372056.4_Missense_Mutation_p.V313I|LDB3_ENST00000372066.3_Missense_Mutation_p.V198I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Missense_Mutation_p.V198I|LDB3_ENST00000361373.4_Missense_Mutation_p.V245I|LDB3_ENST00000310944.6_Missense_Mutation_p.V245I|LDB3_ENST00000458213.2_Missense_Mutation_p.V198I	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	302						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CGCCTCTCCCGTCTACCAGGC	0.602000													6	107					0	0	0.001168	0	0
PHF19	26147	broad.mit.edu	37	9	123632758	123632758	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr9:123632758C>T	ENST00000373896.3	-	4	579	c.327G>A	c.(325-327)ccG>ccA	p.P109P	PHF19_ENST00000312189.6_Silent_p.P109P	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCATTCAGCGGCCCTGATG	0.627000													24	183					0	0	0.003330	0	0
CUL4B	8450	broad.mit.edu	37	X	119666336	119666336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:119666336C>G	ENST00000371322.5	-	18	2441	c.2380G>C	c.(2380-2382)Gat>Cat	p.D794H	CUL4B_ENST00000404115.3_Missense_Mutation_p.D812H|CUL4B_ENST00000336592.6_Missense_Mutation_p.D799H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	812					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGAAATCATCATTACAAATG	0.368000													15	45					0	0	0.002450	0	0
NOTCH3	4854	broad.mit.edu	37	19	15272483	15272483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:15272483C>A	ENST00000263388.2	-	33	6031	c.5956G>T	c.(5956-5958)Gag>Tag	p.E1986*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1986					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGGCAGCCTCATAGCTGCCC	0.627000													3	13					0.004672	0.00519799	0.004672	1	0
WDFY3	23001	broad.mit.edu	37	4	85752750	85752750	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr4:85752750C>T	ENST00000322366.6	-	8	992	c.585G>A	c.(583-585)gtG>gtA	p.V195V	WDFY3_ENST00000295888.4_Silent_p.V195V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	195						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCACAGTTTCactaagatct	0.388000													18	41					0	0	0.004990	0	0
GRIA3	2892	broad.mit.edu	37	X	122459926	122459926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:122459926G>T	ENST00000264357.5	+	4	850	c.558G>T	c.(556-558)tgG>tgT	p.W186C	GRIA3_ENST00000371256.5_Missense_Mutation_p.W186C|GRIA3_ENST00000541091.1_Missense_Mutation_p.W170C|GRIA3_ENST00000542149.1_Missense_Mutation_p.W186C|GRIA3_ENST00000371251.1_Missense_Mutation_p.W186C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	186					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAAACAACTGGCAAGTAACAG	0.418000													15	46					0.000308642	0.00035035	0.003163	1	0
SCAND3	114821	broad.mit.edu	37	6	28554410	28554410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:28554410C>T	ENST00000452236.2	-	1	702	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	29					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGGTCTTCTTCTTTAACCTTT	0.502000													18	45					0	0	0.006122	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414914	14414914	+	RNA	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr21:14414914G>A	ENST00000507941.1	+	0	95																											CCTTGATGGCGAAAACAGGAC	0.428000													6	24					0	0	0.004482	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436124	8436124	+	Splice_Site	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:8436124G>A	ENST00000301455.2	+	6	928		c.e6-1		ANGPTL4_ENST00000393962.2_Splice_Site|ANGPTL4_ENST00000541807.1_Splice_Site	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4						angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCCCACTCCAGGCGAGTTCTG	0.647000													17	39					0	0	0.004007	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687181	68687181	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr10:68687181G>A	ENST00000361320.4	+	2	1085	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	169						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTAACTCCCTGAGAACCATCC	0.488000													27	90					0	0	0.005443	0	0
ZNF626	199777	broad.mit.edu	37	19	20807482	20807482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:20807482C>A	ENST00000601440.1	-	4	1347	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398000													22	70					2.27731e-05	2.69428e-05	0.001882	1	0
TJP1	7082	broad.mit.edu	37	15	30011211	30011211	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr15:30011211G>A	ENST00000346128.6	-	21	3609	c.3135C>T	c.(3133-3135)taC>taT	p.Y1045Y	TJP1_ENST00000356107.6_Silent_p.Y1045Y|TJP1_ENST00000545208.2_Silent_p.Y965Y|TJP1_ENST00000400011.2_Silent_p.Y969Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1045					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTTTCTCTACGTATGGGAGTT	0.502000													73	172					0	0	0.003610	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698126	153698126	+	Splice_Site	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:153698126C>T	ENST00000369682.3	+	28	4969	c.4795_splice	c.e28+1	p.Y1598_splice	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1598					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCCGCTACGGTAGGTGTC	0.582000													17	49					0	0	0.004990	0	0
TMEM145	284339	broad.mit.edu	37	19	42819348	42819348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:42819348G>A	ENST00000598766.1	+	7	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K	TMEM145_ENST00000301204.3_Missense_Mutation_p.E172K			Q8NBT3	TM145_HUMAN	transmembrane protein 145	172						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGGGATCCTGGAGACAGATGT	0.532000													18	40					0	0	0.004990	0	0
ADAM29	11086	broad.mit.edu	37	4	175897109	175897109	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr4:175897109T>A	ENST00000359240.3	+	5	1103	c.433T>A	c.(433-435)Ttt>Att	p.F145I	ADAM29_ENST00000404450.4_Missense_Mutation_p.F145I|ADAM29_ENST00000514159.1_Missense_Mutation_p.F145I|ADAM29_ENST00000445694.1_Missense_Mutation_p.F145I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	145					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCTACCACGTTTGAACATCT	0.383000													16	44					0	0	0.003163	0	0
IL19	29949	broad.mit.edu	37	1	207010066	207010066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:207010066T>C	ENST00000270218.6	+	3	998	c.59T>C	c.(58-60)gTa>gCa	p.V20A	IL19_ENST00000340758.2_Missense_Mutation_p.V58A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	20					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGTGCTCAGTAGACAACCAC	0.468000													4	223					0	0	0.000248	0	0
LAMA2	3908	broad.mit.edu	37	6	129724979	129724979	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:129724979G>T	ENST00000421865.2	+	40	5789	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1914	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTTGATGAGGCTAAAAACAT	0.398000													12	26					2.31682e-05	2.72186e-05	0.003163	1	0
ATP2B4	493	broad.mit.edu	37	1	203678644	203678644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:203678644G>C	ENST00000357681.5	+	11	2896	c.1773G>C	c.(1771-1773)aaG>aaC	p.K591N	ATP2B4_ENST00000367218.3_Missense_Mutation_p.K591N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K579N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.K591N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	591					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACAGCAAGGGCGCCTCTG	0.557000													7	74					0	0	0.006214	0	0
NLGN1	22871	broad.mit.edu	37	3	173997073	173997073	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:173997073G>C	ENST00000457714.1	+	6	1711	c.1282G>C	c.(1282-1284)Ggc>Cgc	p.G428R	NLGN1_ENST00000545397.1_Missense_Mutation_p.G428R|NLGN1_ENST00000361589.4_Missense_Mutation_p.G428R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G468R|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	445					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATATCCTGAAGGCAAAGATGT	0.343000													6	90					0	0	0.001984	0	0
TMC8	147138	broad.mit.edu	37	17	76134756	76134756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:76134756G>C	ENST00000318430.5	+	14	2140	c.1766G>C	c.(1765-1767)cGt>cCt	p.R589P	TMC8_ENST00000589691.1_Missense_Mutation_p.R366P|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	589						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ATTGGCCAGCGTGCCCTCCAC	0.667000													7	65					0	0	0.001984	0	0
ZNF202	7753	broad.mit.edu	37	11	123597653	123597653	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:123597653C>G	ENST00000336139.4	-	8	1361	c.999G>C	c.(997-999)ctG>ctC	p.L333L	ZNF202_ENST00000529691.1_Silent_p.L333L|ZNF202_ENST00000530393.1_Silent_p.L333L			O95125	ZN202_HUMAN	zinc finger protein 202	333					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCCAAACTCAGATCTTCCT	0.463000													9	226					0	0	0.004482	0	0
MBOAT7	79143	broad.mit.edu	37	19	54678113	54678113	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:54678113G>A	ENST00000245615.1	-	8	1524	c.1044C>T	c.(1042-1044)acC>acT	p.T348T	MBOAT7_ENST00000431666.2_Silent_p.T275T|MBOAT7_ENST00000338624.6_Silent_p.T275T	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	348					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGCAGCATGGTCCAGGCGC	0.687000													11	25					0	0	0.008291	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520157	159520157	+	Silent	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr5:159520157G>C	ENST00000456329.3	-	2	1534	c.1500C>G	c.(1498-1500)ggC>ggG	p.G500G	PWWP2A_ENST00000523662.1_Silent_p.G500G|PWWP2A_ENST00000307063.7_Silent_p.G500G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	500										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCCATCTTGCCACTCCGCA	0.537000													5	21					0	0	0.000602	0	0
BTBD11	121551	broad.mit.edu	37	12	108006645	108006645	+	Splice_Site	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:108006645A>G	ENST00000280758.5	+	6	2426	c.1899_splice	c.e6+1	p.E633_splice	BTBD11_ENST00000420571.2_Splice_Site_p.E633_splice|BTBD11_ENST00000490090.2_Splice_Site_p.E633_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Splice_Site_p.E170_splice	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	633						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGAATGTGGAGGTGAGGGTG	0.632000													6	5					0	0	0.001984	0	0
BBX	56987	broad.mit.edu	37	3	107497345	107497345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:107497345G>T	ENST00000415149.2	+	13	2509	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	BBX_ENST00000473542.1_3'UTR|BBX_ENST00000402543.1_Nonsense_Mutation_p.E728*|BBX_ENST00000406780.1_Nonsense_Mutation_p.E728*|BBX_ENST00000325805.8_Nonsense_Mutation_p.E728*|BBX_ENST00000416476.2_Missense_Mutation_p.Q391H	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	728	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTGTCCTCAGAACCGACTAA	0.438000													5	71					3.59834e-05	4.14055e-05	0.001168	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359366	64359366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:64359366C>T	ENST00000377574.1	+	1	1085	c.338C>T	c.(337-339)aCg>aTg	p.T113M	SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113M|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GAGGCCGACACGGAGCCGTGT	0.672000													18	27					0	0	0.008871	0	0
OR2L2	26246	broad.mit.edu	37	1	248201955	248201955	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:248201955T>C	ENST00000366479.2	+	1	482	c.386T>C	c.(385-387)cTc>cCc	p.L129P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTTTCCTCTCCACTATCCC	0.433000													6	179					0	0	0.001984	0	0
FAM184A	79632	broad.mit.edu	37	6	119341142	119341142	+	Splice_Site	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:119341142C>T	ENST00000338891.7	-	4	1776		c.e4+1		RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000352896.5_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTACTTTTTACCTTCTCCAGT	0.398000													7	60					0	0	0.001984	0	0
IRS4	8471	broad.mit.edu	37	X	107978579	107978579	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:107978579A>G	ENST00000372129.2	-	1	1072	c.996T>C	c.(994-996)tgT>tgC	p.C332C		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	332	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATTCGTCTGCACACAAGGCTC	0.587000													100	199					0	0	0.003610	0	0
VPS33B	26276	broad.mit.edu	37	15	91544674	91544674	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr15:91544674A>C	ENST00000333371.3	-	19	1777	c.1424T>G	c.(1423-1425)tTc>tGc	p.F475C	VPS33B_ENST00000535843.1_Missense_Mutation_p.F384C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F448C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	475					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAGAGAACTGAAGGCATCAGT	0.463000													7	65					0	0	0.001984	0	0
CCL23	6368	broad.mit.edu	37	17	34340342	34340342	+	Silent	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:34340342G>T	ENST00000293280.2	-	4	379	c.309C>A	c.(307-309)ctC>ctA	p.L103L	CCL23_ENST00000591423.1_Silent_p.L86L	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	86					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CCTTCTTGGTGAGGAAGCTAG	0.542000													9	15					7.48243e-07	9.10904e-07	0.006214	1	0
ZNF208	7757	broad.mit.edu	37	19	22154781	22154781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:22154781G>T	ENST00000397126.4	-	4	3203	c.3055C>A	c.(3055-3057)Cat>Aat	p.H1019N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGTTCCATAAGG	0.408000													20	62					5.35267e-07	6.56385e-07	0.007413	1	0
KLHL4	56062	broad.mit.edu	37	X	86888820	86888820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:86888820G>A	ENST00000373119.4	+	8	1766	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E541K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	541						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAATACTGTAGAAAGATGGGA	0.413000													4	59					0	0	0.000248	0	0
LINGO4	339398	broad.mit.edu	37	1	151774300	151774300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:151774300C>T	ENST00000368820.3	-	2	1818	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	294						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGCCTTCGGGCTGGGAT	0.622000													22	56					0	0	0.001882	0	0
PEF1	553115	broad.mit.edu	37	1	32098207	32098207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:32098207C>T	ENST00000373703.4	-	4	536	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	172	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCGTAGACATCGATGCGGCCT	0.557000													14	32					0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408273	105408273	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr14:105408273G>T	ENST00000333244.5	-	7	13634	c.13515C>A	c.(13513-13515)gaC>gaA	p.D4505E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4505						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGTCTTGAGGTCCCCCTGCA	0.612000													7	264					8.12818e-05	9.28935e-05	0.001984	1	0
BRF2	55290	broad.mit.edu	37	8	37702008	37702008	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr8:37702008T>C	ENST00000220659.6	-	4	1380	c.1260A>G	c.(1258-1260)tgA>tgG	p.*420W	GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TGGATATCCATCAGGGAGGGT	0.488000													15	44					0	0	0.002450	0	0
TTC23L	153657	broad.mit.edu	37	5	34845770	34845770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr5:34845770G>A	ENST00000505624.1	+	3	350	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	83							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GCTGATTAAGGAAAAAATGGT	0.358000													3	28					0	0	0.004672	0	0
TSSK2	23617	broad.mit.edu	37	22	19118994	19118994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr22:19118994T>C	ENST00000399635.2	+	1	674	c.82T>C	c.(82-84)Tct>Cct	p.S28P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	28	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AAAAGTCAAATCTGCCTACTC	0.507000													14	34					0	0	0.002450	0	0
ALG13	79868	broad.mit.edu	37	X	110979971	110979971	+	Silent	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:110979971T>C	ENST00000394780.3	+	23	2571	c.2559T>C	c.(2557-2559)gcT>gcC	p.A853A	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.A749A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	853					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CAGTTGCAGCTTCCTGTGCCA	0.403000													21	171					0	0	0.002780	0	0
SCN3A	6328	broad.mit.edu	37	2	166032739	166032739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:166032739C>G	ENST00000360093.3	-	3	657	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.E56Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E56Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	56						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTCCAGCTTCCAAGTCACTA	0.428000													4	119					0	0	0.000602	0	0
WDR4	10785	broad.mit.edu	37	21	44299570	44299570	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr21:44299570C>G	ENST00000398208.2	-	1	95	c.36G>C	c.(34-36)caG>caC	p.Q12H	WDR4_ENST00000330317.2_Missense_Mutation_p.Q12H	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	12					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCACCAACGTCTGCCCGCACA	0.682000													37	60					0	0	0.007835	0	0
AADAC	13	broad.mit.edu	37	3	151545495	151545495	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:151545495C>G	ENST00000232892.6	+	5	861	c.735C>G	c.(733-735)ctC>ctG	p.L245L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	245					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCAAATCACTCATGGTCAGAT	0.363000													19	58					0	0	0.007413	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971267	101971267	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:101971267C>T	ENST00000543253.1	+	5	2389	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	GPRASP2_ENST00000332262.5_Silent_p.T490T|GPRASP2_ENST00000535209.1_Silent_p.T490T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCCCCAAACCTGGGACGAGG	0.507000													30	121					0	0	0.002096	0	0
SBF1	6305	broad.mit.edu	37	22	50897810	50897810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr22:50897810C>A	ENST00000380817.2	-	28	3883	c.3700G>T	c.(3700-3702)Gcg>Tcg	p.A1234S	SBF1_ENST00000390679.3_Missense_Mutation_p.A1234S|SBF1_ENST00000348911.6_Missense_Mutation_p.A1235S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1234	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGAGTCCGCCTGGGACTGG	0.667000													16	18					0.00316338	0.00354298	0.003163	1	0
PLXND1	23129	broad.mit.edu	37	3	129281955	129281955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:129281955G>T	ENST00000393239.1	-	26	4828	c.4650C>A	c.(4648-4650)aaC>aaA	p.N1550K	PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGCCTCGATGTTCTCCCGCA	0.637000													17	23					3.45872e-05	4.03517e-05	0.004007	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													4	62					0	0	0.000248	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			20	43					0	0	0.001882	0	0
ADAM28	10863	broad.mit.edu	37	8	24184140	24184140	+	Missense_Mutation	SNP	G	G	A	rs139736903	byFrequency	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr8:24184140G>A	ENST00000265769.4	+	10	1074	c.964G>A	c.(964-966)Gtt>Att	p.V322I	ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Missense_Mutation_p.V69I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.V89I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.V322I|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	322	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCTGTTGGCGTTGTTCAGGT	0.338000													4	118					0	0	0.000602	0	0
AKAP14	158798	broad.mit.edu	37	X	119054501	119054501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:119054501G>T	ENST00000371431.3	+	7	799	c.525G>T	c.(523-525)tgG>tgT	p.W175C	AKAP14_ENST00000371423.2_Missense_Mutation_p.W116C|AKAP14_ENST00000334356.2_Missense_Mutation_p.W115C|AKAP14_ENST00000371425.4_Missense_Mutation_p.W115C|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	175						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GAGAAAACTGGCAGAAGAATC	0.338000													19	39					1.15919e-05	1.38116e-05	0.008871	1	0
BEST3	144453	broad.mit.edu	37	12	70048856	70048856	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:70048856G>C	ENST00000330891.5	-	10	2064	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.S400C|BEST3_ENST00000553096.1_Missense_Mutation_p.S507C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	613						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCTGGCTGAGAGCTCATGGG	0.488000													18	32					0	0	0.004990	0	0
CFHR4	10877	broad.mit.edu	37	1	196874379	196874379	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:196874379C>A	ENST00000367416.2	+	3	532	c.395C>A	c.(394-396)aCa>aAa	p.T132K	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATCAATTACATGTTTGCAA	0.328000													5	94					3.59834e-05	4.14055e-05	0.001168	1	0
ATRN	8455	broad.mit.edu	37	20	3575209	3575209	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:3575209G>A	ENST00000262919.5	+	20	3474	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	ATRN_ENST00000446916.2_Missense_Mutation_p.E1136K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1136	Laminin EGF-like 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGGGGACGAGTGCCAGCT	0.597000													14	57					0	0	0.002450	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164140	85164140	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr15:85164140C>T	ENST00000448803.2	+	3	1006	c.714C>T	c.(712-714)atC>atT	p.I238I	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.I238I|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000358472.3_Silent_p.I88I	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	238					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I238I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCACCTCATCACACACGAGA	0.493000													10	74					0	0	0.008291	0	0
DENND2D	79961	broad.mit.edu	37	1	111730992	111730992	+	Splice_Site	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:111730992G>C	ENST00000357640.4	-	11	1329	c.1099_splice	c.e11-1	p.T367_splice	DENND2D_ENST00000369752.5_Splice_Site_p.T364_splice	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	367										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGTTCTGCAGCTGCAGGAGA	0.483000													20	44					0	0	0.008871	0	0
CHIC1	53344	broad.mit.edu	37	X	72797282	72797282	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:72797282C>G	ENST00000373504.6	+	2	421	c.336C>G	c.(334-336)tcC>tcG	p.S112S	CHIC1_ENST00000373502.5_Silent_p.S112S			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					AATTTCCCTCCGTTCTAACAG	0.343000													18	138					0	0	0.008871	0	0
LCN1	3933	broad.mit.edu	37	9	138415134	138415134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr9:138415134G>A	ENST00000263598.2	+	3	338	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LCN1_ENST00000371781.3_Missense_Mutation_p.G93E	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	93					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GACGAGCCGGGAAAATACACG	0.632000													5	45					0	0	0.001168	0	0
DAXX	1616	broad.mit.edu	37	6	33289647	33289647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:33289647G>A	ENST00000374542.5	-	2	260	c.56C>T	c.(55-57)gCt>gTt	p.A19V	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A19V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	19	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGGCTGAGCAGCTGCTTCATC	0.602000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	137					0	0	0.000248	0	0
OR2A2	442361	broad.mit.edu	37	7	143806750	143806750	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr7:143806750C>G	ENST00000408979.2	+	1	144	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGCGATTCTCCTCTGTGGAC	0.517000													8	168					0	0	0.004482	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137416	40137416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:40137416C>T	ENST00000278198.2	-	2	2390	c.427G>A	c.(427-429)Gct>Act	p.A143T	LRRC4C_ENST00000527150.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A143T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	143					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TATACAAAAGCTCCATTCGGG	0.438000													23	53					0	0	0.002299	0	0
JPH4	84502	broad.mit.edu	37	14	24040391	24040391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr14:24040391C>G	ENST00000397118.3	-	6	2451	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	JPH4_ENST00000544177.1_Missense_Mutation_p.E182Q|JPH4_ENST00000356300.4_Missense_Mutation_p.E517Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	517					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ATCCCAGCCTCATCCTCAGCC	0.647000													18	164					0	0	0.006122	0	0
PRPS1	5631	broad.mit.edu	37	X	106888430	106888430	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:106888430T>C	ENST00000372435.4	+	5	676	c.554T>C	c.(553-555)cTg>cCg	p.L185P	PRPS1_ENST00000543248.1_Missense_Mutation_p.L185P|PRPS1_ENST00000372428.4_Missense_Mutation_p.L118P|PRPS1_ENST00000372418.1_Missense_Mutation_p.L85P	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	185					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GCAGACAGGCTGAATGTGGAC	0.502000													9	286					0	0	0.004482	0	0
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	A	rs139029496		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr7:99002548C>A	ENST00000350498.3	-	2	322	c.42G>T	c.(40-42)gcG>gcT	p.A14A		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TATACTGCCTCGCCCGGCCTT	0.632000													16	56					0.000422831	0.00047675	0.004007	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55284979	55284979	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:55284979C>T	ENST00000336077.6	+	3	305	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89C|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCATCAGTCGCATGACGCA	0.532000													5	265					0	0	0.001168	0	0
INSC	387755	broad.mit.edu	37	11	15222416	15222416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:15222416T>G	ENST00000379554.3	+	7	927	c.881T>G	c.(880-882)tTc>tGc	p.F294C	INSC_ENST00000530161.1_Missense_Mutation_p.F247C|INSC_ENST00000528567.1_Missense_Mutation_p.F247C|INSC_ENST00000424273.1_Intron|INSC_ENST00000379556.3_Missense_Mutation_p.F247C|INSC_ENST00000447214.2_Intron|INSC_ENST00000525218.1_Intron	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	294					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGGACAGTTTCCGGTGCTTG	0.587000													3	45					0	0	0.004672	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931144	94931144	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr14:94931144T>C	ENST00000337425.5	-	4	1078	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	SERPINA9_ENST00000298845.7_Missense_Mutation_p.N235S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.N317S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.N186S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.N299S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.N237S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	317					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.N335S(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGTTTCCAGATTGTAGGAGGC	0.448000													24	45					0	0	0.003954	0	0
CBX2	84733	broad.mit.edu	37	17	77753183	77753183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr17:77753183G>T	ENST00000310942.4	+	3	243	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CBX2_ENST00000269399.5_Nonsense_Mutation_p.E47*	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	47	Chromo.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCGGAGGAGAACATCCT	0.632000													19	12					8.00594e-06	9.60713e-06	0.007413	1	0
PSAP	5660	broad.mit.edu	37	10	73590951	73590951	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr10:73590951A>C	ENST00000394936.3	-	4	454	c.307T>G	c.(307-309)Tct>Gct	p.S103A	PSAP_ENST00000394934.1_Missense_Mutation_p.S103A			P07602	SAP_HUMAN	prosaposin	103	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CATGAAGCAGACATGTTCGGT	0.483000													30	62					0	0	0.006320	0	0
NLRP13	126204	broad.mit.edu	37	19	56424476	56424476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:56424476C>T	ENST00000588751.1	-	5	731	c.707G>A	c.(706-708)aGg>aAg	p.R236K	NLRP13_ENST00000342929.3_Missense_Mutation_p.R236K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACCCCTGCCCTCCCCACCAA	0.507000													4	130					0	0	0.000248	0	0
SYDE2	84144	broad.mit.edu	37	1	85666170	85666170	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:85666170G>A	ENST00000341460.5	-	1	559	c.510C>T	c.(508-510)ggC>ggT	p.G170G		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	170					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGTCTCCTTTGCCACTGCGTA	0.642000													31	51					0	0	0.007291	0	0
MUC6	4588	broad.mit.edu	37	11	1026050	1026050	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:1026050C>G	ENST00000421673.2	-	21	2688	c.2638G>C	c.(2638-2640)Gac>Cac	p.D880H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	880	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCTGGCCGTCGAAGGTGATG	0.677000													3	7					0	0	0.000248	0	0
FLG	2312	broad.mit.edu	37	1	152285104	152285104	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:152285104T>A	ENST00000368799.1	-	3	2293	c.2258A>T	c.(2257-2259)cAt>cTt	p.H753L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTCTGAATGTCCCTCACT	0.582000									Ichthyosis				15	785					0	0	0.002450	0	0
SLC39A8	64116	broad.mit.edu	37	4	103226195	103226195	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr4:103226195A>T	ENST00000424970.2	-	5	941	c.626T>A	c.(625-627)cTt>cAt	p.L209H	SLC39A8_ENST00000356736.4_Missense_Mutation_p.L209H|SLC39A8_ENST00000394833.2_Missense_Mutation_p.L209H|SLC39A8_ENST00000510255.1_5'UTR	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	209						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAAAAAGAAAAGTAGGTAAAA	0.348000													6	32					0	0	0.001168	0	0
RALGAPB	57148	broad.mit.edu	37	20	37202933	37202933	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:37202933G>A	ENST00000262879.6	+	29	4567	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1428Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1425Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1207Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1428					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGCAGGCGAGCTCTTGGT	0.358000													9	154					0	0	0.006214	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835171	60835171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:60835171C>G	ENST00000313733.3	+	3	374	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q46E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	58					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAACGGAATTCAGAAACACAG	0.453000													18	58					0	0	0.006122	0	0
ASXL1	171023	broad.mit.edu	37	20	31023531	31023531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr20:31023531G>T	ENST00000375687.4	+	13	3440	c.3016G>T	c.(3016-3018)Gaa>Taa	p.E1006*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E1001*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1006					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCTGACTTTGAAGGTCACCT	0.502000			"""F, N, Mis"""		"""MDS, CMML"""								32	53					8.16721e-17	1.01636e-16	0.002096	1	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	61					0	0	0.004672	0	0
EPAS1	2034	broad.mit.edu	37	2	46605175	46605175	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:46605175C>T	ENST00000263734.3	+	10	1902	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	464					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGCTGCCCCGGGCAGCA	0.682000													3	11					0	0	0.004672	0	0
ADCY1	107	broad.mit.edu	37	7	45725669	45725669	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr7:45725669C>T	ENST00000297323.7	+	13	2204	c.2182C>T	c.(2182-2184)Cac>Tac	p.H728Y		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	728					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CGAGTCTACACACCATGCCCT	0.637000													16	61					0	0	0.004007	0	0
OR10X1	128367	broad.mit.edu	37	1	158548862	158548862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:158548862delC	ENST00000368150.1	-	1	827	c.828delG	c.(826-828)ttfs	p.L276fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTTCTGGCTTCAAATAAACAA	0.493													11	130	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235972380	235972385	+	In_Frame_Del	DEL	TGTTAT	TGTTAT	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:235972380_235972385delTGTTAT	ENST00000389794.3	-	5	1907_1912	c.1733_1738delATAACA	c.(1732-1740)ctt>c	p.HNI578del	LYST_ENST00000389793.2_In_Frame_Del_p.HNI578del|LYST_ENST00000536965.1_In_Frame_Del_p.HNI578del			Q99698	LYST_HUMAN	lysosomal trafficking regulator	578					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATATTCCAATGTTATGAACACCCGA	0.442													7	134	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691399	68691400	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:68691399_68691400delAT	ENST00000377957.2	-	4	816_817	c.409_410delAT	c.(409-411)gfs	p.M137fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	137										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CATTGGGTACATGATTTTTTCT	0.391													16	205	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	RNA	DEL	G	G	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393													2	4	---	---	---	---					
TPD52L1	7164	broad.mit.edu	37	6	125541335	125541345	+	Splice_Site	DEL	TTCAGGTATGT	TTCAGGTATGT	-	rs111553148		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:125541335_125541345delTTCAGGTATGT	ENST00000534000.1	+	2	427_431	c.135_splice	c.e2+1	p.44_splice	TPD52L1_ENST00000534199.1_Splice_Site_p.15_splice|TPD52L1_ENST00000392482.2_Splice_Site_p.15_splice|TPD52L1_ENST00000304877.13_Splice_Site_p.44_splice|TPD52L1_ENST00000524679.1_Splice_Site_p.15_splice|TPD52L1_ENST00000532429.1_Splice_Site_p.15_splice|TPD52L1_ENST00000527711.1_Splice_Site_p.44_splice|TPD52L1_ENST00000368402.5_Splice_Site_p.44_splice|TPD52L1_ENST00000368388.2_Splice_Site_p.44_splice|TPD52L1_ENST00000528193.1_Splice_Site_p.44_splice	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	44					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCAGAGTTAGTTCAGGTATGTTTAGTAATCT	0.355													9	78	---	---	---	---					
DEPTOR	64798	broad.mit.edu	37	8	120977486	120977486	+	Frame_Shift_Del	DEL	A	A	-	rs35198895		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:120977486delA	ENST00000286234.5	+	4	570	c.440delA	c.(439-441)gafs	p.E147fs	DEPTOR_ENST00000523492.1_Frame_Shift_Del_p.E46fs	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	147	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGAGCCCTGAAAACACACTC	0.468													7	56	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4406682	4406684	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:4406682_4406684delAGA	ENST00000254436.7	-	7	1371_1373	c.1259_1261delTCT	c.(1258-1263)tac>t	p.FY420del	TRIM21_ENST00000543625.1_In_Frame_Del_p.FY420del	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	420	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGATGTTGTAGAAGGAGACCAT	0.532													7	12	---	---	---	---					
VPS37C	55048	broad.mit.edu	37	11	60899313	60899313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:60899313delC	ENST00000301765.5	-	5	1279	c.1047delG	c.(1045-1047)ggfs	p.G349fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	349	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCAGGCCCCGGCGGTG	0.697													2	4	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53007615	53007616	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:53007615_53007616delGG	ENST00000305748.3	-	5	874_875	c.840_841delCC	c.(838-843)tcacfs	p.SH280fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	280	Linker 12.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCTGATGTGGGACTGGATCT	0.559													11	141	---	---	---	---					
STAC3	246329	broad.mit.edu	37	12	57640658	57640659	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:57640658_57640659delAC	ENST00000332782.2	-	6	732_733	c.531_532delGT	c.(529-534)gtttfs	p.VF177fs	STAC3_ENST00000554578.1_Frame_Shift_Del_p.VF138fs|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	177					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						AGGGTTTCAAACACAGGATCAT	0.510													52	151	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450563	23450563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:23450563delC	ENST00000262713.2	-	1	1288	c.913delG	c.(913-915)agfs	p.E305fs	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E305fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	305	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCGACGGCTCAATCCCCGAG	0.697													11	13	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126700	32126726	+	RNA	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG	ENST00000564145.1	-	0	456																											ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352													3	4	---	---	---	---					
DOCK6	57572	broad.mit.edu	37	19	11313343	11313343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:11313343delG	ENST00000294618.7	-	42	5289	c.5278delC	c.(5278-5280)acfs	p.H1760fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.H1099fs|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1760	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCACCGAAGTGGGCGCCGTAG	0.617													7	209	---	---	---	---					
RP4-769N13.6	0	broad.mit.edu	37	X	101870740	101870740	+	RNA	DEL	T	T	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:101870740delT	ENST00000476910.1	+	0	739				RP4-769N13.7_ENST00000602441.1_RNA																							GGTGGCCAGattttttttttg	0.328													3	4	---	---	---	---					
OR10X1	128367	broad.mit.edu	37	1	158548862	158548862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:158548862delC	ENST00000368150.1	-	1	827	c.828delG	c.(826-828)ttfs	p.L276fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTTCTGGCTTCAAATAAACAA	0.493													11	130	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235972380	235972385	+	In_Frame_Del	DEL	TGTTAT	TGTTAT	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr1:235972380_235972385delTGTTAT	ENST00000389794.3	-	5	1907_1912	c.1733_1738delATAACA	c.(1732-1740)ctt>c	p.HNI578del	LYST_ENST00000389793.2_In_Frame_Del_p.HNI578del|LYST_ENST00000536965.1_In_Frame_Del_p.HNI578del			Q99698	LYST_HUMAN	lysosomal trafficking regulator	578					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATATTCCAATGTTATGAACACCCGA	0.442													7	134	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691399	68691400	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:68691399_68691400delAT	ENST00000377957.2	-	4	816_817	c.409_410delAT	c.(409-411)gfs	p.M137fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	137										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CATTGGGTACATGATTTTTTCT	0.391													16	205	---	---	---	---					
TPD52L1	7164	broad.mit.edu	37	6	125541335	125541345	+	Splice_Site	DEL	TTCAGGTATGT	TTCAGGTATGT	-	rs111553148		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:125541335_125541345delTTCAGGTATGT	ENST00000534000.1	+	2	427_431	c.135_splice	c.e2+1	p.44_splice	TPD52L1_ENST00000527711.1_Splice_Site_p.44_splice|TPD52L1_ENST00000524679.1_Splice_Site_p.15_splice|TPD52L1_ENST00000534199.1_Splice_Site_p.15_splice|TPD52L1_ENST00000392482.2_Splice_Site_p.15_splice|TPD52L1_ENST00000368388.2_Splice_Site_p.44_splice|TPD52L1_ENST00000304877.13_Splice_Site_p.44_splice|TPD52L1_ENST00000368402.5_Splice_Site_p.44_splice|TPD52L1_ENST00000532429.1_Splice_Site_p.15_splice|TPD52L1_ENST00000528193.1_Splice_Site_p.44_splice	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	44					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCAGAGTTAGTTCAGGTATGTTTAGTAATCT	0.355													9	78	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	-	CCG			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr6:161413044_161413045insCCG	ENST00000392142.4	+	1	229_230	c.81_82insCCG	c.(79-84)cccgcc>ccCCGcgcc	p.27_28PA>PRA	MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	27	Poly-Pro.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													4	7	---	---	---	---					
DEPTOR	64798	broad.mit.edu	37	8	120977486	120977486	+	Frame_Shift_Del	DEL	A	A	-	rs35198895		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr8:120977486delA	ENST00000286234.5	+	4	570	c.440delA	c.(439-441)gafs	p.E147fs	DEPTOR_ENST00000523492.1_Frame_Shift_Del_p.E46fs	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	147	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGAGCCCTGAAAACACACTC	0.468													7	56	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4406682	4406684	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:4406682_4406684delAGA	ENST00000254436.7	-	7	1371_1373	c.1259_1261delTCT	c.(1258-1263)tac>t	p.FY420del	TRIM21_ENST00000543625.1_In_Frame_Del_p.FY420del	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	420	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGATGTTGTAGAAGGAGACCAT	0.532													7	12	---	---	---	---					
VPS37C	55048	broad.mit.edu	37	11	60899313	60899313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr11:60899313delC	ENST00000301765.5	-	5	1279	c.1047delG	c.(1045-1047)ggfs	p.G349fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	349	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCAGGCCCCGGCGGTG	0.697													2	4	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53007615	53007616	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:53007615_53007616delGG	ENST00000305748.3	-	5	874_875	c.840_841delCC	c.(838-843)tcacfs	p.SH280fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	280	Linker 12.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCTGATGTGGGACTGGATCT	0.559													11	141	---	---	---	---					
STAC3	246329	broad.mit.edu	37	12	57640658	57640659	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr12:57640658_57640659delAC	ENST00000332782.2	-	6	732_733	c.531_532delGT	c.(529-534)gtttfs	p.VF177fs	STAC3_ENST00000554578.1_Frame_Shift_Del_p.VF138fs|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	177					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						AGGGTTTCAAACACAGGATCAT	0.510													52	151	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450563	23450563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr14:23450563delC	ENST00000262713.2	-	1	1288	c.913delG	c.(913-915)agfs	p.E305fs	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E305fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	305	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCGACGGCTCAATCCCCGAG	0.697													11	13	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126700	32126726	+	RNA	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG	ENST00000564145.1	-	0	456																											ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352													3	4	---	---	---	---					
DOCK6	57572	broad.mit.edu	37	19	11313343	11313343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr19:11313343delG	ENST00000294618.7	-	42	5289	c.5278delC	c.(5278-5280)acfs	p.H1760fs	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.H1099fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1760	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCACCGAAGTGGGCGCCGTAG	0.617													7	209	---	---	---	---					
