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
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:47958147C>T	ENST00000426837.2	-	8	1308	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L390L			P27816	MAP4_HUMAN	microtubule-associated protein 4	390	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L390L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGAGCCAAGTCCATTT	0.448000													5	118					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726					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.E726K(8)		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)			GAAGAAGGATGAAACACAAAA	0.428000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	27					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3859	3859	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chrM:3859T>C	ENST00000361390.2	+	1	553	c.553T>C	c.(553-555)Tga>Cga	p.185_185insR						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						TGGCCATAATATGATTTATCT	0.478000													37	5					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28090122	28090122	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr15:28090122G>A	ENST00000354638.3	-	23	2570	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	OCA2_ENST00000353809.5_Silent_p.S781S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	805					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATTCCATGAAGGAGAACCCAT	0.358000									Oculocutaneous Albinism				8	21					0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154427	14154427	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:14154427A>G	ENST00000295767.5	-	4	752	c.428T>C	c.(427-429)aTt>aCt	p.I143T	CHCHD4_ENST00000396914.3_Missense_Mutation_p.I130T	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	130					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGTGGCCTCAATGGGAGCTGT	0.498000													4	10					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78771737	78771737	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr10:78771737C>A	ENST00000286627.5	-	18	3032	c.2080G>T	c.(2080-2082)Ggc>Tgc	p.G694C	KCNMA1_ENST00000372440.1_Missense_Mutation_p.G694C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G698C|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G694C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G694C|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G694C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G694C|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G694C	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	694					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CGTTTGCAGCCACATTTTTTT	0.413000													8	29					0.00829132	0.00857238	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32738056	32738056	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:32738056G>T	ENST00000421745.2	+	54	10537	c.10403G>T	c.(10402-10404)aGa>aTa	p.R3468I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3468					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTATGAAGAGAAGTGGCAGG	0.413000													8	17					7.48243e-07	8.61185e-07	1	1	0
UTS2	10911	broad.mit.edu	37	1	7912998	7912998	+	Silent	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:7912998A>T	ENST00000377516.2	-	2	386	c.66T>A	c.(64-66)ccT>ccA	p.P22P	UTS2_ENST00000054668.5_Intron|UTS2_ENST00000361696.5_Silent_p.P22P			O95399	UTS2_HUMAN	urotensin 2	22					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCAAGGAGAGGAAGAGATA	0.393000													11	41					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32117109	32117109	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:32117109C>A	ENST00000295065.4	-	6	841	c.532G>T	c.(532-534)Gcg>Tcg	p.A178S	MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.A181S|MEMO1_ENST00000404530.1_Missense_Mutation_p.A178S|MEMO1_ENST00000426310.2_Missense_Mutation_p.A155S|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	178					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CTAGGATCCGCTAGATATTTA	0.363000													16	39					5.3912e-06	5.97934e-06	1	1	0
ZNF670	93474	broad.mit.edu	37	1	247202725	247202725	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:247202725G>A	ENST00000366503.2	-	2	276	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ACAGAAGCCAGGTTCCTGAAG	0.463000													16	33					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342877	48342877	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:48342877T>C	ENST00000221996.7	+	4	759	c.553T>C	c.(553-555)Tct>Cct	p.S185P	CRX_ENST00000539067.1_Missense_Mutation_p.S185P|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	185					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTCAGGGCCGTCTCTGACCTC	0.672000													9	29					0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538909	23538909	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr8:23538909T>C	ENST00000380871.4	-	2	567	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	177					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.Y177C(2)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTTAGTCTTATAGCGTCTGTT	0.582000													31	60					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380978	78380978	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:78380978C>T	ENST00000278550.7	-	32	6874	c.6412G>A	c.(6412-6414)Gtc>Atc	p.V2138I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGGGTCATGACAGCTGTGGTG	0.453000													8	28					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56351986	56351986	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr6:56351986A>T	ENST00000370754.5	-	87	20869	c.20870T>A	c.(20869-20871)cTg>cAg	p.L6957Q	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.L6779Q|DST_ENST00000421834.2_Missense_Mutation_p.L4691Q|DST_ENST00000244364.6_Missense_Mutation_p.L4365Q|DST_ENST00000370788.2_Missense_Mutation_p.L4582Q|DST_ENST00000446842.2_Missense_Mutation_p.L6453Q|DST_ENST00000361203.3_Missense_Mutation_p.L6668Q			Q03001	DYST_HUMAN	dystonin	6777					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCATCAGCCAGGGAGGTTTT	0.423000													16	20					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662000													4	121					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7194462	7194462	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:7194462T>A	ENST00000007699.5	-	4	472	c.409A>T	c.(409-411)Agc>Tgc	p.S137C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	137	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCTCCAACGCTGCGCAGAAAC	0.502000													20	50					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801342	185801342	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:185801342G>T	ENST00000302277.6	+	4	1813	c.1219G>T	c.(1219-1221)Gtt>Ttt	p.V407F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	407						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACTGAAGAGGTTAACATAAC	0.393000													14	19					3.27435e-08	4.03506e-08	1	1	0
A1CF	29974	broad.mit.edu	37	10	52601733	52601733	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr10:52601733A>T	ENST00000395489.2	-	7	629	c.233T>A	c.(232-234)aTg>aAg	p.M78K	A1CF_ENST00000395495.1_Missense_Mutation_p.M85K|A1CF_ENST00000374001.1_Missense_Mutation_p.M85K|A1CF_ENST00000373997.3_Missense_Mutation_p.M85K|A1CF_ENST00000373995.3_Missense_Mutation_p.M93K|A1CF_ENST00000282641.2_Missense_Mutation_p.M85K|A1CF_ENST00000373993.1_Missense_Mutation_p.M85K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	85	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CATCATTCTCATTTCATAAAT	0.303000													5	8					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503054	149503054	+	RNA	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:149503054G>T	ENST00000378016.2	+	0	8558							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCAGACACGTGGGCGCAGC	0.637000													9	24					0.00621372	0.00647926	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204415219	204415219	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:204415219G>A	ENST00000367187.3	-	17	3099	c.2543C>T	c.(2542-2544)tCg>tTg	p.S848L	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S848L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	848					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCTCACCTCCGAGTGGCAGTA	0.622000											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	51					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640660	29640660	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr6:29640660G>T	ENST00000376883.1	-	6	1579	c.1168C>A	c.(1168-1170)Ccg>Acg	p.P390T	ZFP57_ENST00000376881.3_Missense_Mutation_p.P390T|ZFP57_ENST00000488757.1_Missense_Mutation_p.P410T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	326					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TAGTTGGGCGGCTCTGTGAGG	0.512000													15	148					3.32936e-07	3.94351e-07	1	1	0
MST1L	11223	broad.mit.edu	37	1	17084286	17084286	+	RNA	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:17084286C>A	ENST00000455405.2	-	0	522																											CACACTTGGTCCCTGGAGGCA	0.587000													6	325					0.000442599	0.00046954	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247150500	247150500	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:247150500A>T	ENST00000339986.7	-	4	1464	c.1317T>A	c.(1315-1317)gaT>gaA	p.D439E	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	439					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCACATTCATCACATTTGT	0.368000													3	30					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543512	10543512	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:10543512C>A	ENST00000583535.1	-	22	2570	c.2483G>T	c.(2482-2484)tGg>tTg	p.W828L	MYH3_ENST00000226209.7_Missense_Mutation_p.W828L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	828					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CATCCAGGGCCAGTGCTTGAC	0.458000													14	34					4.7546e-09	6.04231e-09	1	1	0
DVL1	1855	broad.mit.edu	37	1	1273747	1273747	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:1273747T>A	ENST00000378888.5	-	13	1693	c.1409A>T	c.(1408-1410)tAc>tTc	p.Y470F	DVL1_ENST00000378891.5_Missense_Mutation_p.Y445F			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	470	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTGCTGGCGTACTTCCGGGC	0.647000													18	23					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543480	23543480	+	Silent	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:23543480C>T	ENST00000300619.7	-	4	2506	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.E735E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	767						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAAGGGTTTCTCTCTAGTAT	0.373000													14	18					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	64					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56155447	56155447	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:56155447G>C	ENST00000452681.2	-	3	255	c.106C>G	c.(106-108)Cga>Gga	p.R36G	PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000297373.2_Missense_Mutation_p.R36G|PHKG1_ENST00000489604.1_5'UTR	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	36	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657000													18	52					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48625107	48625107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:48625107G>A	ENST00000006658.6	+	2	224	c.104G>A	c.(103-105)tGg>tAg	p.W35*	SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000356488.4_Intron	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	26					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			cccaggacctggccccacagg	0.592000													6	21					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183946	61183946	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:61183946T>A	ENST00000340437.4	-	6	805	c.725A>T	c.(724-726)gAt>gTt	p.D242V	CPSF7_ENST00000439958.3_Missense_Mutation_p.D190V|CPSF7_ENST00000448745.1_Missense_Mutation_p.D190V|CPSF7_ENST00000394888.4_Missense_Mutation_p.D199V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	199	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCCCGTCCATCAGCAGAATC	0.537000													48	105					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													4	60					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98506438	98506438	+	Silent	SNP	C	C	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:98506438C>G	ENST00000359863.4	+	14	1412	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	TRRAP_ENST00000446306.3_Silent_p.L401L|TRRAP_ENST00000355540.3_Silent_p.L401L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	401					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGTCCAGCTCTTCGCCAAGA	0.647000													5	7					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956555	16956555	+	RNA	SNP	C	C	T	rs9329440	by1000genomes	TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:16956555C>T	ENST00000412962.1	-	0	294																											CTCTAGGGCCCGCCGCTCACT	0.607000													6	45					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40049350	40049350	+	Silent	SNP	G	G	A	rs113638490	byFrequency	TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr20:40049350G>A	ENST00000373233.3	-	31	6102	c.5925C>T	c.(5923-5925)atC>atT	p.I1975I		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1975					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCATGGCGATAGTATTGG	0.438000													38	87					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092402	151092402	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chrX:151092402G>A	ENST00000370340.3	+	3	533	c.266G>A	c.(265-267)aGc>aAc	p.S89N	MAGEA4_ENST00000393921.1_Missense_Mutation_p.S89N|MAGEA4_ENST00000360243.2_Missense_Mutation_p.S89N|MAGEA4_ENST00000393920.1_Missense_Mutation_p.S89N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.S89N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.S89N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.S89N			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	89							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGTTCCAGCAGCCAAGAA	0.572000													24	41					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	71					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35617312	35617312	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:35617312G>T	ENST00000392225.3	-	7	1757	c.1238C>A	c.(1237-1239)cCg>cAg	p.P413Q	LGI4_ENST00000310123.3_Silent_p.P387P|LGI4_ENST00000493050.1_5'UTR			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	244						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAAGAGCACGGGCCGCTGGG	0.706000													7	13					1.06961e-07	1.30493e-07	1	1	0
CFHR2	3080	broad.mit.edu	37	1	196927176	196927176	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:196927176C>G	ENST00000367415.4	+	4	700	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	CFHR2_ENST00000367421.3_Missense_Mutation_p.Q196E|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	196	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TAGAAACGGACAATGGTCAGA	0.368000													17	45					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5753566	5753566	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr9:5753566A>T	ENST00000414202.2	+	14	1713	c.1522A>T	c.(1522-1524)Att>Ttt	p.I508F	KIAA1432_ENST00000381532.2_Missense_Mutation_p.I429F|KIAA1432_ENST00000251879.6_Missense_Mutation_p.I508F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.I429F|KIAA1432_ENST00000449720.2_Intron	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	508						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGACAGAATATTGCTGTGGT	0.313000													12	16					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043640	119043640	+	Silent	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr10:119043640C>T	ENST00000334464.5	-	5	2843	c.2604G>A	c.(2602-2604)caG>caA	p.Q868Q		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	868					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AAAACATACACTGGGAAGCTG	0.393000													14	35					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672941	30672941	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr6:30672941T>C	ENST00000376406.3	-	10	4666	c.4019A>G	c.(4018-4020)cAa>cGa	p.Q1340R	MDC1_ENST00000376405.2_Missense_Mutation_p.Q1076R|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1340	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTGACAGGTTGGTCTGTGGA	0.537000								Other conserved DNA damage response genes					5	197					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24460774	24460774	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:24460774C>G	ENST00000270800.1	-	4	496	c.458G>C	c.(457-459)cGg>cCg	p.R153P		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	153	Fibronectin type-III 2.					integral to membrane	interferon receptor activity	p.R153L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGTTAGCCGGTGGCCATC	0.522000													19	38					0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97442454	97442454	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr10:97442454T>A	ENST00000265993.8	-	12	1649	c.1406A>T	c.(1405-1407)cAg>cTg	p.Q469L	TCTN3_ENST00000430368.1_Missense_Mutation_p.Q321L|TCTN3_ENST00000371217.4_Missense_Mutation_p.Q482L	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	469					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CCCTCCTTTCTGGGCTGGGTC	0.468000													44	90					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902698	4902698	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:4902698C>T	ENST00000381781.2	-	1	181	c.182G>A	c.(181-183)aGg>aAg	p.R61K		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	61					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GACGTAACCCCTTCCCACGAG	0.498000													8	113					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:47958144A>G	ENST00000426837.2	-	8	1311	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.A391A			P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGAGCCAAGTCCA	0.443000													5	119					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140743981	140743981	+	Silent	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr5:140743981C>T	ENST00000518069.1	+	1	84	c.84C>T	c.(82-84)tcC>tcT	p.S28S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAGGATCCGGGCAGATCC	0.657000													10	14					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11196287	11196287	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chrX:11196287C>T	ENST00000337414.4	-	8	2434	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R521H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R330H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R318H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R553H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R318H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R346H|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	521	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGTAGCAGGCGGTGGAGGGT	0.552000													9	60					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61644995	61644995	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:61644995G>A	ENST00000540820.1	-	7	945	c.873C>T	c.(871-873)tgC>tgT	p.C291C	FADS3_ENST00000525588.1_Silent_p.C263C|FADS3_ENST00000278829.2_Silent_p.C291C|FADS3_ENST00000527697.1_Silent_p.C167C			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	291					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCACTGCATGCACACCAGCA	0.627000													18	45					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20778661	20778661	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:20778661G>T	ENST00000404938.2	+	24	3575	c.2923G>T	c.(2923-2925)Gct>Tct	p.A975S	ABCB5_ENST00000258738.6_Missense_Mutation_p.A530S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	530					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTCGTTTTGGCTCCTGAATA	0.433000													14	16					1.67942e-08	2.0907e-08	1	1	0
ZNF430	80264	broad.mit.edu	37	19	21240089	21240089	+	Silent	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:21240089T>C	ENST00000261560.5	+	5	1156	c.975T>C	c.(973-975)gcT>gcC	p.A325A		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTGGCAGAGCTTTTAACCGGT	0.398000													3	66					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694060	141694060	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr5:141694060C>T	ENST00000344120.4	-	3	869	c.683G>A	c.(682-684)gGc>gAc	p.G228D	SPRY4_ENST00000434127.2_Missense_Mutation_p.G205D	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	205	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAAGATGCCCTGCACCAA	0.622000									Testicular Cancer, Familial Clustering of				13	26					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65397824	65397824	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:65397824A>T	ENST00000355703.3	+	27	4758	c.4219A>T	c.(4219-4221)Act>Tct	p.T1407S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1407						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTCCACAGGCACTTACTGCCA	0.627000													10	27					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95549922	95549922	+	Silent	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr10:95549922A>T	ENST00000371418.4	+	5	758	c.498A>T	c.(496-498)acA>acT	p.T166T	LGI1_ENST00000371413.3_Silent_p.T166T|LGI1_ENST00000542308.1_Silent_p.T118T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	166					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTCTTTAACAAATGTGTAAG	0.318000													5	11					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784744	32784744	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr9:32784744A>C	ENST00000342743.5	+	2	928	c.563A>C	c.(562-564)gAg>gCg	p.E188A		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	188						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GACAGATCTGAGTGCCCTGAG	0.542000													22	35					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677576	169677576	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:169677576C>A	ENST00000236147.4	-	3	653	c.493G>T	c.(493-495)Gca>Tca	p.A165S	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	152	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CAGAGGGCTGCCTTTAGTTTG	0.493000													23	40					6.36457e-07	7.39503e-07	1	1	0
INADL	10207	broad.mit.edu	37	1	62613980	62613980	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:62613980G>T	ENST00000371158.2	+	42	5410	c.5296G>T	c.(5296-5298)Gcc>Tcc	p.A1766S		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1766					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAATATAAGCGCCATAGCAGC	0.433000													22	51					3.28513e-13	4.40424e-13	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58640680	58640680	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:58640680C>T	ENST00000598312.1	-	4	424	c.191G>A	c.(190-192)tGt>tAt	p.C64Y	ZNF329_ENST00000358067.4_Missense_Mutation_p.C64Y	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		AGGATATTCACAAATTGCTTC	0.473000													8	34					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308974	248308974	+	Silent	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:248308974C>A	ENST00000366476.1	+	1	525	c.525C>A	c.(523-525)gcC>gcA	p.A175A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GGGAAATAGCCCACTTCTTCT	0.428000													52	174					3.45129e-13	4.57671e-13	1	1	0
DNASE2B	58511	broad.mit.edu	37	1	84880520	84880520	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:84880520G>A	ENST00000370665.3	+	6	1088	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	DNASE2B_ENST00000370662.3_Missense_Mutation_p.G144E	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	352					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCATTTCAAGGATTAGTATTA	0.393000													4	14					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002321	170002321	+	Silent	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:170002321C>T	ENST00000263816.3	-	70	13209	c.12924G>A	c.(12922-12924)acG>acA	p.T4308T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4308					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACTACCAGCGTTTTCTCTT	0.388000													13	37					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	25					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527000													6	256					0.217242	0.219038	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000													3	40					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902164	247902164	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:247902164C>A	ENST00000283225.2	+	1	248	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ATCCTCAACTCTGTCGCCTCC	0.512000													17	41					0.0383953	0.0390352	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83331888	83331888	+	Silent	SNP	C	C	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr15:83331888C>G	ENST00000261722.3	-	21	2745	c.2538G>C	c.(2536-2538)ctG>ctC	p.L846L	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.L814L|AP3B2_ENST00000535359.1_Silent_p.L865L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	846					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGACGGTACCAGGGTGGAGT	0.632000													4	20					0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52448547	52448547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:52448547G>T	ENST00000327906.3	+	4	790	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	PHF7_ENST00000478707.1_Nonsense_Mutation_p.E44*|PHF7_ENST00000482327.1_3'UTR|PHF7_ENST00000347025.2_Nonsense_Mutation_p.E44*	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	44						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGGGGATCCCGAAAAATTAGG	0.433000													21	72					5.26018e-13	6.90045e-13	1	1	0
PRELP	5549	broad.mit.edu	37	1	203452824	203452824	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:203452824G>T	ENST00000343110.2	+	2	639	c.512G>T	c.(511-513)cGg>cTg	p.R171L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	171					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGCCCCGGAACCTGGAG	0.597000													28	56					1.74807e-11	2.24489e-11	1	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8219099	8219099	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:8219099T>G	ENST00000361926.3	+	8	1558	c.1448T>G	c.(1447-1449)gTg>gGg	p.V483G	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.V483G	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	483	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTGTCCCGTGTGCGCTCTTCC	0.572000													13	31					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41115743	41115743	+	Silent	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:41115743C>T	ENST00000308370.7	+	14	1851	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	LTBP4_ENST00000545697.1_Silent_p.G70G|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.G550G|LTBP4_ENST00000204005.9_Silent_p.G580G	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	617	Cys-rich.|EGF-like 4; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGCCCGGGCTTCCGAGCCG	0.697000													5	10					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708726	203708726	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:203708726C>G	ENST00000357681.5	+	21	4485	c.3362C>G	c.(3361-3363)cCc>cGc	p.P1121R	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1157					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)			ATTCAGAAACCCTACAACCAA	0.483000													16	51					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183696138	183696138	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr4:183696138G>A	ENST00000511685.1	+	24	5259	c.5136G>A	c.(5134-5136)ctG>ctA	p.L1712L	TENM3_ENST00000406950.2_Silent_p.L1712L					teneurin transmembrane protein 3																		CCAGTGGCCTGGACTCACACT	0.473000													3	17					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933995	49933995	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr19:49933995G>A	ENST00000221485.3	-	12	1635	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	SLC17A7_ENST00000600601.1_Silent_p.V421V|SLC17A7_ENST00000543531.1_Silent_p.V476V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	488					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGAAGCAAAGACCCCGTAGA	0.582000													21	54					0	0	1	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527200	32527200	+	RNA	SNP	A	A	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr13:32527200A>T	ENST00000428783.1	+	0	900																											CGGCTGCAGCAGTACGCGGAG	0.597000													13	31					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8737710	8737710	+	Silent	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr20:8737710A>G	ENST00000378641.3	+	24	3016	c.2541A>G	c.(2539-2541)acA>acG	p.T847T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.T847T|PLCB1_ENST00000338037.6_Silent_p.T847T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	847					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAGAAACACCATCAGAGG	0.433000													6	28					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253953	39253953	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:39253953G>T	ENST00000333822.4	-	1	440	c.384C>A	c.(382-384)agC>agA	p.S128R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	128	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agatgctgcagctggggcggc	0.672000													4	19					5.18039e-06	5.79824e-06	1	1	0
TANC2	26115	broad.mit.edu	37	17	61391778	61391778	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:61391778A>G	ENST00000424789.2	+	8	971	c.967A>G	c.(967-969)Atc>Gtc	p.I323V	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.I323V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	323							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCTCCAGATATCTCCTTGAA	0.428000													11	32					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233408313	233408313	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:233408313G>A	ENST00000389494.3	+	9	960	c.939G>A	c.(937-939)ctG>ctA	p.L313L	CHRNG_ENST00000389492.3_Silent_p.L261L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	313					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCTTCCTCCTGGTGGTGACCA	0.617000													13	25					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202252542	202252542	+	Missense_Mutation	SNP	G	G	A	rs142579315		TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:202252542G>A	ENST00000332624.3	-	13	2008	c.1580C>T	c.(1579-1581)cCg>cTg	p.P527L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	527				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GCTCTCTGTCGGGGTGACACA	0.488000													35	56					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr14:105421945G>A	ENST00000333244.5	-	5	460	c.341C>T	c.(340-342)aCg>aTg	p.T114M		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	114	PDZ.					nucleus		p.T114M(1)		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)			TGTCTTCAGCGTCACCTCTGT	0.602000													35	54					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32341111	32341111	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr20:32341111G>T	ENST00000375200.1	+	5	988	c.623G>T	c.(622-624)gGg>gTg	p.G208V	ZNF341_ENST00000342427.2_Missense_Mutation_p.G208V			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCCCCCCTGGGCGTCCCAAC	0.692000													3	9					6.4e-05	6.90973e-05	1	1	0
AP5M1	55745	broad.mit.edu	37	14	57752960	57752960	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr14:57752960A>G	ENST00000261558.3	+	7	1719	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G	AP5M1_ENST00000431972.2_Missense_Mutation_p.D452G	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	438	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											AGGATCTTAGATTACACACTT	0.338000													19	33					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797982	55797982	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:55797982G>T	ENST00000313555.1	+	1	88	c.88G>T	c.(88-90)Gta>Tta	p.V30L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACTGTTCTTGGTATTCCTTCT	0.328000													7	17					3.09899e-07	3.70663e-07	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111462421	111462421	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:111462421T>C	ENST00000428084.1	-	27	3199	c.2927A>G	c.(2926-2928)aAc>aGc	p.N976S	DOCK4_ENST00000437633.1_Missense_Mutation_p.N976S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	976					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTCTTACTTGTTAGCAACCAA	0.373000													6	18					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163539	32163539	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr6:32163539T>A	ENST00000375023.3	-	30	5825	c.5687A>T	c.(5686-5688)cAt>cTt	p.H1896L	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1896					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCTCCGGCAATGAGAATAGGC	0.692000													9	29					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687501	158687501	+	Silent	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:158687501G>A	ENST00000368146.1	-	1	452	c.453C>T	c.(451-453)atC>atT	p.I151I	OR6K3_ENST00000368145.1_Silent_p.I135I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGGGGGTCATGATCATTTGAT	0.498000													26	63					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164768988	164768988	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:164768988G>T	ENST00000420696.2	+	4	751	c.563G>T	c.(562-564)cGg>cTg	p.R188L	PBX1_ENST00000401534.1_Missense_Mutation_p.R188L|PBX1_ENST00000540246.1_Missense_Mutation_p.R83L|PBX1_ENST00000367897.1_Missense_Mutation_p.R188L|PBX1_ENST00000540236.1_Missense_Mutation_p.R188L|PBX1_ENST00000560641.1_Missense_Mutation_p.R83L|PBX1_ENST00000559240.1_Missense_Mutation_p.R188L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	188					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GAGCAAAGCCGGACCAGGCCC	0.567000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								16	39					0.000566183	0.000595469	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70681634	70681634	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr13:70681634G>T	ENST00000377844.4	-	1	957	c.198C>A	c.(196-198)agC>agA	p.S66R	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	66	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCAGAAAGTGCTCACACCGC	0.592000													18	45					1.28384e-07	1.55078e-07	1	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177720	89177720	+	Silent	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chrX:89177720C>A	ENST00000561129.2	+	1	766	c.636C>A	c.(634-636)gcC>gcA	p.A212A	TGIF2LX_ENST00000283891.5_Silent_p.A212A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGGAGCACGCCGACTTCAGCA	0.527000													13	16					1.5842e-08	1.9925e-08	1	1	0
DDX18	8886	broad.mit.edu	37	2	118586916	118586916	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:118586916G>A	ENST00000263239.2	+	13	1872	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	582							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCCCAGGAAGCATATAAGTC	0.323000													4	53					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1464277	1464277	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chrX:1464277A>G	ENST00000331035.4	+	3	482	c.133A>G	c.(133-135)Aga>Gga	p.R45G	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	45						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGACCTTAACAGAAATGTGAC	0.388000													46	93					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215688	50215688	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr15:50215688C>T	ENST00000284509.6	-	17	1787	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R549Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	549					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGGGTTTCGAACTGAAAA	0.378000													6	11					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862925	108862925	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr13:108862925G>A	ENST00000356922.4	-	2	964	c.692C>T	c.(691-693)cCt>cTt	p.P231L	LIG4_ENST00000442234.1_Missense_Mutation_p.P231L|LIG4_ENST00000405925.1_Missense_Mutation_p.P231L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	231			P -> S (in dbSNP:rs3093765).		cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCCTACAGAAGGATCATGCAG	0.363000								Non-homologous end-joining					4	11					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120639678	120639678	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr2:120639678C>T	ENST00000263708.2	+	7	1190	c.419C>T	c.(418-420)cCc>cTc	p.P140L		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	140	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTAGATTACCCTGTCCTTCT	0.333000													22	55					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507000													6	370					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724502	112724502	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr7:112724502A>G	ENST00000501255.2	-	3	898	c.275T>C	c.(274-276)cTg>cCg	p.L92P	GPR85_ENST00000424100.1_Missense_Mutation_p.L92P|GPR85_ENST00000297146.2_Missense_Mutation_p.L92P|GPR85_ENST00000449591.1_Missense_Mutation_p.L92P	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	92						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTTGCAAGTCAGAGTCCCATA	0.433000													22	46					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446751	29446751	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr22:29446751C>T	ENST00000544604.2	+	8	2757	c.2582C>T	c.(2581-2583)cCg>cTg	p.P861L	ZNRF3_ENST00000332811.4_Missense_Mutation_p.P761L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.P761L|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P761L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	861						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACGCGAGGCCCGGATACCCCA	0.701000													5	9					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469767	10469767	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr8:10469767C>A	ENST00000382483.3	-	4	2064	c.1841G>T	c.(1840-1842)gGc>gTc	p.G614V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	614					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGAAAGGCCCAGAACCAG	0.622000													21	49					5.45024e-15	7.47112e-15	1	1	0
FOXRED2	80020	broad.mit.edu	37	22	36902321	36902321	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr22:36902321T>A	ENST00000397224.4	-	2	242	c.149A>T	c.(148-150)cAg>cTg	p.Q50L	FOXRED2_ENST00000216187.6_Missense_Mutation_p.Q50L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.Q50L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	50					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCAGCGCGCTGCAGGAAGTA	0.711000													7	11					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922777	92922777	+	Silent	SNP	T	T	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr14:92922777T>A	ENST00000532405.1	+	12	1306	c.1080T>A	c.(1078-1080)ggT>ggA	p.G360G	SLC24A4_ENST00000531433.1_Silent_p.G341G|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Silent_p.G296G|SLC24A4_ENST00000298877.1_Silent_p.G343G|SLC24A4_ENST00000351924.5_Silent_p.G324G			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	360						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CGGCCAATGGTGTGAGCAGTA	0.527000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	32					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248810	75248810	+	Silent	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr14:75248810G>T	ENST00000325680.7	+	4	2188	c.2064G>T	c.(2062-2064)ccG>ccT	p.P688P	YLPM1_ENST00000552421.1_Silent_p.P688P|YLPM1_ENST00000238571.3_Silent_p.P493P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCATCCTCCGTTGCAATCAG	0.493000													12	25					4.3838e-07	5.14254e-07	1	1	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629046	1629046	+	Silent	SNP	G	G	A	rs12808755		TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:1629046G>A	ENST00000399685.1	-	1	647	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	190	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagggtttgcagcagctgg	0.622000													6	402					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677577	169677577	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:169677577C>A	ENST00000236147.4	-	3	652	c.492G>T	c.(490-492)aaG>aaT	p.K164N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	151	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AGAGGGCTGCCTTTAGTTTGT	0.493000													23	40					9.04412e-07	1.0312e-06	1	1	0
GSE1	23199	broad.mit.edu	37	16	85682236	85682236	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr16:85682236G>T	ENST00000253458.7	+	3	481	c.305G>T	c.(304-306)cGc>cTc	p.R102L	GSE1_ENST00000393243.1_Missense_Mutation_p.R29L|GSE1_ENST00000405402.2_5'UTR	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		ACACCCAAGCGCGTGCCCATG	0.677000													35	80					6.29468e-14	8.53279e-14	1	1	0
MKKS	8195	broad.mit.edu	37	20	10389284	10389284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr20:10389284C>A	ENST00000347364.2	-	4	1915	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	385					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	p.E385K(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ACCTTCAGCTCATCCCAGGCA	0.388000													11	32					0.000151284	0.000161901	1	1	0
NBEA	26960	broad.mit.edu	37	13	35782950	35782950	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr13:35782950C>A	ENST00000540320.1	+	32	6014	c.5480C>A	c.(5479-5481)gCt>gAt	p.A1827D	NBEA_ENST00000379939.2_Missense_Mutation_p.A1824D|NBEA_ENST00000310336.4_Missense_Mutation_p.A1827D|NBEA_ENST00000400445.3_Missense_Mutation_p.A1827D			Q8NFP9	NBEA_HUMAN	neurobeachin	1827						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATATATTTGCTGCTACTGGA	0.393000													6	9					1	1	1	1	0
CAPN2	824	broad.mit.edu	37	1	223939704	223939713	+	Frame_Shift_Del	DEL	CAAGCTGGAA	CAAGCTGGAA	-			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr1:223939704_223939713delCAAGCTGGAA	ENST00000295006.5	+	8	1214_1223	c.905_914delCAAGCTGGAA	c.(904-915)ccfs	p.PSWN302fs	CAPN2_ENST00000433674.2_Frame_Shift_Del_p.PSWN224fs	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	302	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCCAGCTGCCCAAGCTGGAACACTATAGAC	0.514													8	61	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47098880	47098881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:47098880_47098881insT	ENST00000409792.3	-	15	6435_6436	c.6393_6394insA	c.(6391-6396)cagggafs	p.QG2131fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1629fs*15(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGCCTCCCGTTGAGCCACCT	0.455			"""N, F, S, Mis"""		clear cell renal carcinoma								28	88	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47163361	47163361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:47163361delT	ENST00000409792.3	-	3	2807	c.2765delA	c.(2764-2766)agfs	p.K922fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCCTGCATGCTTTAAAAACTC	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma								22	43	---	---	---	---					
C3orf58	205428	broad.mit.edu	37	3	143691464	143691472	+	In_Frame_Del	DEL	GCGAGCCCC	GCGAGCCCC	-			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr3:143691464_143691472delGCGAGCCCC	ENST00000315691.3	+	1	825_833	c.290_298delGCGAGCCCC	c.(289-300)ggc>g	p.GEPR97del		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	97						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGCAGTACGGCGAGCCCCGCGAGGGCGG	0.708													8	67	---	---	---	---					
PPP2R5B	5526	broad.mit.edu	37	11	64699334	64699334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr11:64699334delT	ENST00000164133.2	+	11	1732	c.1110delT	c.(1108-1110)cafs	p.H370fs		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	370					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCAGCCCCCATTTCCAGGTAT	0.552													29	67	---	---	---	---					
TXNRD1	7296	broad.mit.edu	37	12	104707093	104707093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr12:104707093delG	ENST00000526691.1	+	4	770	c.314delG	c.(313-315)tgfs	p.W105fs	TXNRD1_ENST00000378070.4_Frame_Shift_Del_p.W152fs|TXNRD1_ENST00000525566.1_Frame_Shift_Del_p.W203fs|TXNRD1_ENST00000524698.1_Frame_Shift_Del_p.W53fs|TXNRD1_ENST00000503506.2_Frame_Shift_Del_p.W53fs|TXNRD1_ENST00000427956.1_Frame_Shift_Del_p.W168fs|TXNRD1_ENST00000429002.2_Frame_Shift_Del_p.W203fs|TXNRD1_ENST00000397736.2_Frame_Shift_Del_p.W97fs|TXNRD1_ENST00000354940.6_Frame_Shift_Del_p.W53fs|TXNRD1_ENST00000542918.1_Frame_Shift_Del_p.W103fs|TXNRD1_ENST00000540716.1_Frame_Shift_Del_p.W15fs|TXNRD1_ENST00000529546.1_Frame_Shift_Del_p.W15fs|TXNRD1_ENST00000526950.1_Frame_Shift_Del_p.W122fs|TXNRD1_ENST00000388854.3_Frame_Shift_Del_p.W105fs|TXNRD1_ENST00000526390.1_Frame_Shift_Del_p.W97fs	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	203	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGAACTAGATGGGGTAAGCTT	0.403													2	4	---	---	---	---					
GRIN2C	2905	broad.mit.edu	37	17	72842339	72842344	+	In_Frame_Del	DEL	TTGCCT	TTGCCT	-			TCGA-86-7714-01A-12D-2167-08	TCGA-86-7714-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75da25e4-927d-4bf6-ba40-54ac5c109b3c	53d2a678-c2c3-46ac-9b69-9e29bb392037	g.chr17:72842339_72842344delTTGCCT	ENST00000293190.5	-	11	2357_2362	c.2211_2216delAGGCAA	c.(2209-2217)gcg>gc	p.AGK737del	GRIN2C_ENST00000347612.4_In_Frame_Del_p.AGK737del	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	737					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCCCTCGTCCTTGCCTGCCATGTAGT	0.597													34	69	---	---	---	---					
