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
CASP5	838	broad.mit.edu	37	11	104877974	104877974	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:104877974T>A	ENST00000393141.2	-	3	339	c.308A>T	c.(307-309)cAc>cTc	p.H103L	CASP5_ENST00000260315.3_Missense_Mutation_p.H90L|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.H32L|CASP5_ENST00000393139.2_Missense_Mutation_p.H57L|CASP5_ENST00000526056.1_Missense_Mutation_p.H103L|CASP5_ENST00000531367.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	90	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.H103L(1)|p.H74L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CAGAACATCGTGTTTTGCCAA	0.353000													14	25					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118896108	118896108	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:118896108T>C	ENST00000277905.2	-	2	548	c.304A>G	c.(304-306)Agg>Ggg	p.R102G	VAX1_ENST00000369206.5_Missense_Mutation_p.R102G	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	102						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GTGCGCGTCCTCTTAGGCCGG	0.662000													15	26					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28476674	28476674	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:28476674C>G	ENST00000373857.3	-	2	1493	c.859G>C	c.(859-861)Gtc>Ctc	p.V287L	PTAFR_ENST00000539896.1_Missense_Mutation_p.V287L|PTAFR_ENST00000305392.3_Missense_Mutation_p.V287L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	287					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCTAAGACACAGTTGGTG	0.542000													3	28					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458454	142458454	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142458454G>A	ENST00000486171.1	+	2	106	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	PRSS1_ENST00000311737.7_Missense_Mutation_p.C30Y			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	30	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.C30Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGCTACAACTGTGAGGAGAAT	0.537000													28	149					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518549	93518549	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:93518549A>T	ENST00000377067.3	+	8	1948	c.1576A>T	c.(1576-1578)Atg>Ttg	p.M526L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	526						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.M526L(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCAGATGATATGAACTTCAG	0.423000													4	46					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238049	132238049	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:132238049G>A	ENST00000321253.6	+	4	890	c.783G>A	c.(781-783)ccG>ccA	p.P261P		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	261					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.P261P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTGCCGTACCCCCGCA	0.587000													12	14					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113532837	113532837	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:113532837G>C	ENST00000263339.3	-	7	778	c.623C>G	c.(622-624)cCt>cGt	p.P208R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	208					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.P208R(1)		breast(2)|large_intestine(1)|lung(9)	12						GGGTATCTCAGGCATCTCCTA	0.428000													18	22					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36724475	36724475	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:36724475T>A	ENST00000264659.7	-	3	553	c.329A>T	c.(328-330)aAc>aTc	p.N110I	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.N144I	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	135					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACTCCAGTAGTTTGGCTGCTG	0.562000													13	13					0	0	1	0	0
CCNYL1	151195	broad.mit.edu	37	2	208606965	208606965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:208606965G>T	ENST00000295414.3	+	7	749	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.E129*|CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.E110*			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	180	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGTTCCAGAGGAATACTTTAA	0.318000													3	37					1	1	1	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69043458	69043458	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:69043458C>T	ENST00000295381.3	+	7	1261	c.842C>T	c.(841-843)cCt>cTt	p.P281L	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P274L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P275L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P282L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P275L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P242L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	281	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P282L(1)|p.P275L(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCATCCTTCCTCGTGACAAC	0.478000													15	51					0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226784561	226784561	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:226784561G>T	ENST00000366788.3	+	2	366	c.261G>T	c.(259-261)agG>agT	p.R87S	C1orf95_ENST00000366789.4_Missense_Mutation_p.R87S	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	87						integral to membrane		p.R87S(1)		large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TCCCGGACAGGCATGTGTGCT	0.612000													112	75					3.71976e-56	6.12814e-56	1	1	0
KIAA1715	80856	broad.mit.edu	37	2	176794757	176794757	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:176794757C>G	ENST00000272748.4	-	13	1472	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.V440L|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	409						integral to membrane	protein binding	p.V409L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GCTCCAGGAACTGTGGAGTTG	0.433000													30	40					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42368149	42368149	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:42368149G>T	ENST00000298119.4	+	5	3317	c.2128G>T	c.(2128-2130)Gtc>Ttc	p.V710F	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_3'UTR	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	710						integral to membrane		p.V710F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGACCAGATTGTCCAGGAAAC	0.289000										HNSCC(30;0.082)			9	46					6.42651e-13	8.77327e-13	1	1	0
NKD2	85409	broad.mit.edu	37	5	1038314	1038314	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:1038314G>A	ENST00000296849.5	+	10	1411	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	394					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.S394S(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AGGGCCACTCGCCACTCAAGG	0.721000													34	6					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53260092	53260092	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:53260092C>A	ENST00000262593.5	+	7	1181	c.831C>A	c.(829-831)agC>agA	p.S277R	DOK5_ENST00000395939.1_Missense_Mutation_p.S169R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	277							insulin receptor binding	p.S277R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GGCAGCACAGCACGGGACAGC	0.652000													13	19					1.5842e-08	1.94917e-08	1	1	0
PRX	57716	broad.mit.edu	37	19	40902612	40902612	+	Silent	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577000													6	182					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583188	11583188	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:11583188A>C	ENST00000262442.3	+	18	3536	c.3468A>C	c.(3466-3468)aaA>aaC	p.K1156N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1156N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1156	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGCTGTTAAAGAACGGCAGA	0.408000													10	60					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29596311	29596311	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:29596311G>T	ENST00000318184.5	-	25	3139	c.3140C>A	c.(3139-3141)cCa>cAa	p.P1047Q	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1047					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.P1047Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTTTTTCCTGGTCCAAATCC	0.348000													27	50					7.26314e-15	1.03213e-14	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53104055	53104055	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:53104055C>A	ENST00000408890.4	+	1	707	c.691C>A	c.(691-693)Ccc>Acc	p.P231T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	231								p.P231T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCCTTCGTGCCCAGGCCAGG	0.642000													8	13					0.000274275	0.000296217	1	1	0
TAC4	255061	broad.mit.edu	37	17	47917224	47917224	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:47917224G>T	ENST00000334568.4	-	4	297	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TAC4_ENST00000436235.1_Missense_Mutation_p.L94M|TAC4_ENST00000398154.1_Missense_Mutation_p.L83M|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000326219.5_Intron	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN	tachykinin 4 (hemokinin)	100					regulation of blood pressure	extracellular region		p.L100M(1)		breast(1)|large_intestine(1)|lung(3)	5						TCTGTGAACAGGCTTCTCTTG	0.577000													9	24					1.08611e-07	1.30012e-07	1	1	0
IGHV3-64	28414	broad.mit.edu	37	14	107113822	107113822	+	RNA	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:107113822G>T	ENST00000454421.2	-	0	349																											AATTGTCTCTGGAGATGGTGA	0.483000													62	128					4.46356e-37	7.11243e-37	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220502499	220502499	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:220502499G>C	ENST00000358055.3	+	17	3244	c.2732G>C	c.(2731-2733)cGc>cCc	p.R911P	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R938P|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R911P|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R938P|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R911P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	911	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R938P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTTCCTGCGCAAGTTCAGG	0.637000													14	39					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109515	160109515	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:160109515C>T	ENST00000361216.3	+	21	3015	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R976C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	976					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTAGCCCTCCGCATGTACCC	0.557000													6	31					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63927973	63927973	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:63927973T>A	ENST00000260118.6	-	9	1277	c.875A>T	c.(874-876)gAg>gTg	p.E292V		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	292	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E292V(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TGCTTTCTCCTCTTCAGATTC	0.279000													17	23					0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247496	12247496	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:12247496C>T	ENST00000266434.4	+	5	925	c.730C>T	c.(730-732)Cca>Tca	p.P244S	BCL2L14_ENST00000396367.1_Intron|BCL2L14_ENST00000586576.1_Intron|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000589718.1_Intron|BCL2L14_ENST00000308721.5_Intron	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	237					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	p.P244S(1)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CCAGGGTTTTCCACAGGATGG	0.478000													7	38					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797473	7797473	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:7797473G>C	ENST00000303635.7	+	15	3708	c.3501G>C	c.(3499-3501)caG>caC	p.Q1167H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q1167H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.Q1167H(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCACCTGCAGAGAGATGAGC	0.582000			T	WWTR1	epitheliod hemangioendothelioma								26	38					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008792	142008792	+	RNA	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142008792G>A	ENST00000390387.3	+	0	312																											TAAATCTCCAGACAAAGCTCA	0.408000													12	27					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81973536	81973536	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:81973536A>T	ENST00000359376.3	+	30	3567	c.3353A>T	c.(3352-3354)gAg>gTg	p.E1118V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1118	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E1118V(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAACACAGGAGAAGGTGACA	0.473000													11	39					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169997	118169997	+	Silent	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:118169997A>C	ENST00000427715.2	+	7	773	c.339A>C	c.(337-339)gcA>gcC	p.A113A	SLC30A8_ENST00000521243.1_Silent_p.A113A|SLC30A8_ENST00000519688.1_Silent_p.A113A|SLC30A8_ENST00000456015.2_Silent_p.A162A	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	162					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTACCTGGCATGTGAGCGCC	0.537000													19	171					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649002	33649002	+	Silent	SNP	G	G	T	rs111792611		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:33649002G>T	ENST00000504830.1	-	9	1739	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P468P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	468	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P468P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGATCACTCCGGGGGCAATGA	0.468000										HNSCC(64;0.19)			33	48					4.92203e-23	7.45204e-23	1	1	0
NID2	22795	broad.mit.edu	37	14	52508881	52508881	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:52508881C>A	ENST00000216286.5	-	7	1766	c.1767G>T	c.(1765-1767)ctG>ctT	p.L589L	NID2_ENST00000541773.1_Silent_p.L536L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	589	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.L589L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCCAGCCAAACAGGCCTCCAA	0.577000													42	72					1.61004e-24	2.49197e-24	1	1	0
ZNF16	7564	broad.mit.edu	37	8	146157289	146157289	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:146157289C>A	ENST00000276816.4	-	4	1070	c.884G>T	c.(883-885)tGt>tTt	p.C295F	ZNF16_ENST00000394909.2_Missense_Mutation_p.C295F	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C295F(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACATTCATTACACATATAAGG	0.473000													15	41					1.52009e-12	2.04079e-12	1	1	0
KIF1A	547	broad.mit.edu	37	2	241724517	241724517	+	Splice_Site	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:241724517C>G	ENST00000498729.2	-	7	855	c.608_splice	c.e7-1	p.R203_splice	KIF1A_ENST00000320389.7_Splice_Site_p.R203_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	203	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R203S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGCCACGGTCCTGAGGAGCA	0.622000													40	57					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106746	55106746	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:55106746C>A	ENST00000453777.1	+	5	710	c.540C>A	c.(538-540)gcC>gcA	p.A180A	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.A180A|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	180	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGTCCCGGGCCATCTTCTCTG	0.567000													5	89					1.23904e-05	1.41024e-05	1	1	0
NPHP4	261734	broad.mit.edu	37	1	5924448	5924448	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:5924448C>A	ENST00000378156.4	-	28	4211	c.3946G>T	c.(3946-3948)Gtg>Ttg	p.V1316L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1316					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGGCCACCAGCTGGTGG	0.647000													12	10					6.31663e-08	7.65556e-08	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399398	89399398	+	RNA	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:89399398G>T	ENST00000479981.1	-	0	331																											AAAATCTTCAGGCTGCAGGCT	0.488000													36	63					1.17673e-23	1.79276e-23	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23542775	23542775	+	Silent	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:23542775T>A	ENST00000300619.7	-	4	3211	c.3006A>T	c.(3004-3006)gcA>gcT	p.A1002A	ZNF91_ENST00000397082.2_Silent_p.A970A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1002						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)				ATTGGCTAAATGCTTTGCCAC	0.383000													4	72					0	0	1	0	0
C8orf33	65265	broad.mit.edu	37	8	146278737	146278737	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:146278737C>G	ENST00000331434.6	+	4	572	c.458C>G	c.(457-459)cCc>cGc	p.P153R		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	153								p.P153R(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		ACGCCCTTGCCCCGGAAGAGG	0.537000													41	40					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73921504	73921504	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:73921504C>T	ENST00000586717.1	-	12	1123	c.850G>A	c.(850-852)Gag>Aag	p.E284K	FBF1_ENST00000389570.4_Missense_Mutation_p.E284K|FBF1_ENST00000319129.5_Missense_Mutation_p.E284K			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	284								p.E284K(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGAAGTCCTCGTCACCCCAC	0.552000													4	13					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74707912	74707912	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:74707912G>A	ENST00000261980.2	+	2	488	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	133	Ser/Thr-rich.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TCCAGCGATCGAAAAATGTCC	0.597000													5	65					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63985621	63985621	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:63985621T>A	ENST00000260116.4	-	2	262	c.231A>T	c.(229-231)agA>agT	p.R77S	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	77					lipid metabolic process		transporter activity|vitamin E binding	p.R77S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GACATTCTGCTCTCCACTTAT	0.363000													4	21					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399933	142399933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:142399933G>T	ENST00000258042.1	-	2	670	c.530C>A	c.(529-531)cCc>cAc	p.P177H		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CACCGCTTCGGGAACTGCCAG	0.522000													4	92					0.014758	0.0150364	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23861998	23861998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:23861998C>T	ENST00000269142.5	+	6	1944	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q316*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q316*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	316	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	p.Q316*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GTCTTCACCTCAGCCTCACCT	0.333000													5	28					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185488	127185488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:127185488C>A	ENST00000371124.3	-	1	894	c.698G>T	c.(697-699)aGc>aTc	p.S233I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	233						cytoplasm|cytoskeleton		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCTCCCCGGCTCTTGCGTAG	0.512000													21	36					5.35356e-11	6.95676e-11	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25299390	25299390	+	RNA	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:25299390T>C	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							AAAACATTCCTTGGAAAAGCT	0.507000													12	112					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110037721	110037721	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:110037721A>T	ENST00000230124.3	+	3	363	c.239A>T	c.(238-240)cAg>cTg	p.Q80L	FIG4_ENST00000368941.1_Missense_Mutation_p.Q3L|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	80					cell death	endosome membrane	protein binding	p.Q80L(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGATGGGACAGAAAGGATCC	0.408000													18	66					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643259	31643259	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:31643259C>T	ENST00000375494.3	+	1	30	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	10	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.S10S(1)									CCCTGTGGTCCCTGCTTCTGC	0.592000													23	61					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377907	151377907	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:151377907C>T	ENST00000271715.2	-	19	3918	c.3604G>A	c.(3604-3606)Gac>Aac	p.D1202N	POGZ_ENST00000409503.1_Missense_Mutation_p.D1193N|POGZ_ENST00000491586.1_Missense_Mutation_p.D1158N|POGZ_ENST00000368863.2_Missense_Mutation_p.D1107N|POGZ_ENST00000540984.1_Missense_Mutation_p.D564N|POGZ_ENST00000361398.3_Missense_Mutation_p.D1149N|POGZ_ENST00000531094.1_Missense_Mutation_p.D1140N|POGZ_ENST00000392723.1_Missense_Mutation_p.D1149N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1202	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGATCTCGTCATCACTGTAG	0.527000													6	120					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985180	985180	+	Silent	SNP	C	C	A	rs150395578	byFrequency	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:985180C>A	ENST00000361661.2	-	3	689	c.312G>T	c.(310-312)acG>acT	p.T104T	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Silent_p.T104T|SLC26A1_ENST00000398516.2_Silent_p.T104T|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	104						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGAAGAAGGACGTATAGAGGC	0.607000													30	114					3.38236e-24	5.21849e-24	1	1	0
FAM72D	728833	broad.mit.edu	37	1	143912270	143912270	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:143912270T>A	ENST00000400889.1	-	1	873	c.26A>T	c.(25-27)aAg>aTg	p.K9M		NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D	9								p.K9M(2)		lung(1)	1						GCACCTGTCCTTGAAACTACA	0.448000													72	272					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47322211	47322211	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:47322211C>A	ENST00000295454.3	+	5	821	c.529C>A	c.(529-531)Ctg>Atg	p.L177M	GABRB1_ENST00000538619.1_Missense_Mutation_p.L107M	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	177					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L177M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAACTGCACCCTGGAGATCGA	0.418000													16	21					6.44725e-10	8.18111e-10	1	1	0
GPR22	2845	broad.mit.edu	37	7	107114641	107114641	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:107114641G>A	ENST00000304402.4	+	3	1479	c.136G>A	c.(136-138)Gga>Aga	p.G46R	COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	46						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTCTCTCACCGGATTTCTTAT	0.388000													14	79					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127425	55127425	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:55127425C>G	ENST00000257290.5	+	3	544	c.213C>G	c.(211-213)atC>atG	p.I71M	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.I71M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	71	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I71M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGTGGAAATCAGAAATGAAG	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			56	42					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104074252	104074252	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:104074252T>C	ENST00000265148.3	-	25	3278	c.3189A>G	c.(3187-3189)atA>atG	p.I1063M	CENPE_ENST00000380026.3_Missense_Mutation_p.I1038M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1063					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.I1063M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTTTTCTGCTATAACACTCT	0.323000													6	10					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89733118	89733118	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:89733118C>G	ENST00000343435.5	-	5	946	c.410G>C	c.(409-411)gGt>gCt	p.G137A	GBP5_ENST00000370459.3_Missense_Mutation_p.G137A|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	137						plasma membrane	GTP binding|GTPase activity	p.G137A(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCGATAGCACCCTGATCAAT	0.453000													16	18					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657530	143657530	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:143657530C>A	ENST00000392899.1	+	1	504	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCATCAGCTCTCCTGTGCAG	0.522000													10	81					0.000442599	0.000474842	1	1	0
OCA2	4948	broad.mit.edu	37	15	28090154	28090154	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:28090154C>A	ENST00000354638.3	-	23	2538	c.2383G>T	c.(2383-2385)Ggg>Tgg	p.G795W	OCA2_ENST00000353809.5_Missense_Mutation_p.G771W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	795			G -> R (in OCA2).		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	p.G795W(1)		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)		TCTGCAATCCCTGCACACACG	0.403000									Oculocutaneous Albinism				14	17					2.32078e-09	2.92961e-09	1	1	0
KLHL36	79786	broad.mit.edu	37	16	84695345	84695345	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:84695345A>G	ENST00000564996.1	+	5	1598	c.1457A>G	c.(1456-1458)cAc>cGc	p.H486R	KLHL36_ENST00000258157.5_Missense_Mutation_p.H423R	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	486										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGCGGCTGGCACAGCATGTGC	0.637000													11	28					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905986	144905986	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:144905986C>A	ENST00000370490.1	+	1	6298	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	SLITRK2_ENST00000434188.2_Missense_Mutation_p.D681E|SLITRK2_ENST00000447897.2_Missense_Mutation_p.D681E|SLITRK2_ENST00000413937.2_Missense_Mutation_p.D681E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.D681E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	681						integral to membrane		p.D681E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAAACAGACGGCCATGTCT	0.488000													13	14					4.3838e-07	5.17118e-07	1	1	0
OR5B2	390190	broad.mit.edu	37	11	58190203	58190203	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:58190203C>A	ENST00000302581.2	-	1	583	c.532G>T	c.(532-534)Gat>Tat	p.D178Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGGAACATCACAGAAAAAG	0.398000													15	26					4.96729e-08	6.03526e-08	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46388920	46388920	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:46388920C>T	ENST00000454345.1	+	3	933	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Missense_Mutation_p.R86W|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R81W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R81W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R47W|DGKZ_ENST00000343674.6_Missense_Mutation_p.R98W|DGKZ_ENST00000318201.8_Missense_Mutation_p.R81W|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.R81W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	270					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CGAGTCAGAGCGGCAGATCCG	0.677000													3	40					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100268947	100268947	+	RNA	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:100268947C>A	ENST00000515683.1	-	0	426				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTCTACCTCCTCAATGGAAA	0.378000													6	29					0.00198382	0.00206453	1	1	0
RNF20	56254	broad.mit.edu	37	9	104309130	104309130	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:104309130C>T	ENST00000389120.3	+	7	866	c.776C>T	c.(775-777)aCa>aTa	p.T259I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	259					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.T259I(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AAAGTGGAGACAGCCGAATCA	0.418000													37	23					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277715	113277715	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:113277715T>C	ENST00000297405.5	-	60	9857	c.9613A>G	c.(9613-9615)Atg>Gtg	p.M3205V	CSMD3_ENST00000352409.3_Missense_Mutation_p.M3135V|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3165V|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3036V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3205	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAATTCCATCGTGTAGCCT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	107					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703872	7703872	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:7703872C>A	ENST00000340209.4	+	9	1125	c.828C>A	c.(826-828)caC>caA	p.H276Q	RBFOX1_ENST00000552089.1_Missense_Mutation_p.H288Q|RBFOX1_ENST00000550418.1_Missense_Mutation_p.H271Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.H291Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.H314Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.H271Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.H244Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.H314Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.H291Q|RBFOX1_ENST00000436368.2_Missense_Mutation_p.H291Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.H228Q			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	271					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GAGGGGCGCACCTGCGAGGCC	0.716000													5	32					4.096e-09	5.15714e-09	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29630272	29630272	+	Splice_Site	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:29630272A>T	ENST00000318184.5	-	11	1246		c.e11+1		OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAAACACTCACCTGCTTCTG	0.453000													14	95					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755523	79755523	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:79755523C>A	ENST00000305428.3	+	3	2488	c.2413C>A	c.(2413-2415)Cac>Aac	p.H805N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	805						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCTCAAGGCCCACATGAAGAG	0.607000													21	74					7.88262e-20	1.17155e-19	1	1	0
CES1P1	51716	broad.mit.edu	37	16	55794587	55794587	+	RNA	SNP	G	G	T	rs151262919	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:55794587G>T	ENST00000571348.1	+	0	77					NR_003276.2																						GGCCACTCTCGCTGCTTCCGC	0.597000													5	47					8.12818e-05	8.93732e-05	1	1	0
CLIC1	1192	broad.mit.edu	37	6	31698644	31698644	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:31698644T>A	ENST00000375780.2	-	7	1273	c.701A>T	c.(700-702)gAg>gTg	p.E234V	CLIC1_ENST00000395892.1_Missense_Mutation_p.E234V|CLIC1_ENST00000375779.2_Missense_Mutation_p.E234V|CLIC1_ENST00000375784.3_Missense_Mutation_p.E234V			O00299	CLIC1_HUMAN	chloride intracellular channel 1	234					signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	p.E234V(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGCCACTTGCTCATAGGCGAG	0.562000													31	21					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047572	3047572	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:3047572C>A	ENST00000520002.1	-	35	5818	c.5263G>T	c.(5263-5265)Ggt>Tgt	p.G1755C	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1754C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1754C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1754C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1755C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1755C|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1755C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1755	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACTCAGAACCAATTCTCCTT	0.572000													3	3					0.150653	0.152537	1	1	0
OR4D10	390197	broad.mit.edu	37	11	59245659	59245659	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:59245659C>A	ENST00000530162.1	+	1	814	c.757C>A	c.(757-759)Ccc>Acc	p.P253T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P253T(1)|p.P251T(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCATTTCGTGCCCTGCATCTA	0.547000													55	162					9.68594e-22	1.44398e-21	1	1	0
ADI1	55256	broad.mit.edu	37	2	3502845	3502845	+	Silent	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:3502845C>G	ENST00000382093.5	-	4	3248	c.411G>C	c.(409-411)acG>acC	p.T137T	ADI1_ENST00000327435.6_Silent_p.T143T			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	143					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	p.T143T(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GCATGGCCTTCGTGTAGTTCT	0.478000													8	26					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541663	10541663	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:10541663C>T	ENST00000583535.1	-	27	3513	c.3426G>A	c.(3424-3426)cgG>cgA	p.R1142R	MYH3_ENST00000226209.7_Silent_p.R1142R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1142					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1142R(1)		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						CCTCCAGCTCCCGGGCATAGT	0.642000													22	18					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374330	62374330	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:62374330G>T	ENST00000266077.2	+	8	1203	c.1151G>T	c.(1150-1152)cGg>cTg	p.R384L	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	384						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCTGCCAGCGGTTCCTGGAC	0.652000													5	7					3.59834e-05	4.02947e-05	1	1	0
SPRED2	200734	broad.mit.edu	37	2	65540932	65540932	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:65540932C>T	ENST00000356388.4	-	6	1149	c.960G>A	c.(958-960)gaG>gaA	p.E320E	SPRED2_ENST00000443619.2_Silent_p.E317E	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	320	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.E320E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCCGGCGGTTCTCCTCGTGGT	0.657000													24	153					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19799918	19799918	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:19799918C>A	ENST00000329517.6	-	5	543	c.307G>T	c.(307-309)Gct>Tct	p.A103S	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.A103S|GNB1L_ENST00000403325.1_Missense_Mutation_p.A103S	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	103					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.A103S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TCCACGACAGCGCTCCTGCCC	0.672000													9	18					4.68919e-08	5.71164e-08	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36779123	36779123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:36779123C>A	ENST00000416516.2	-	2	1518	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	343						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R343L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCATGGGCCGTGGCTTCCG	0.567000													32	23					1.04352e-10	1.34166e-10	1	1	0
ABL2	27	broad.mit.edu	37	1	179112177	179112177	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:179112177C>A	ENST00000408940.3	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	ABL2_ENST00000367623.4_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000344730.3_Start_Codon_SNP_p.M1I|ABL2_ENST00000504405.1_Start_Codon_SNP_p.M1I|ABL2_ENST00000512653.1_Start_Codon_SNP_p.M1I	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	0					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.M1I(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCCAAGGACCATACCTCTGC	0.458000			T	ETV6	AML								24	20					9.86323e-18	1.4482e-17	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228558766	228558766	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:228558766A>G	ENST00000570156.2	+	105	23232	c.23158A>G	c.(23158-23160)Atc>Gtc	p.I7720V	OBSCN_ENST00000422127.1_Missense_Mutation_p.I6763V|OBSCN_ENST00000366707.4_Missense_Mutation_p.I4397V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6763	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGCGCTCCATCCCTGAGCT	0.672000													23	53					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7040236	7040236	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:7040236C>A	ENST00000389658.3	-	10	1355		c.e10-1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.?(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGCTTCCCTAGAAAGACA	0.453000													25	22					7.68411e-24	1.17807e-23	1	1	0
FBN1	2200	broad.mit.edu	37	15	48748889	48748889	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:48748889G>A	ENST00000316623.5	-	44	5822	c.5367C>T	c.(5365-5367)ttC>ttT	p.F1789F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1789	EGF-like 29; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATTCACATCGGAAGCTGCCAA	0.433000													20	42					0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238345	21238345	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:21238345G>C	ENST00000326783.3	+	2	134	c.36G>C	c.(34-36)ttG>ttC	p.L12F		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	12					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GCACACTCTTGGCCCTACTTT	0.473000													3	35					0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737711	62737711	+	Silent	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:62737711G>C	ENST00000369768.1	-	1	813	c.474C>G	c.(472-474)cgC>cgG	p.R158R		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	158						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCGGTAGGTGCGCCAGGGCA	0.622000													7	18					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84558432	84558432	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:84558432C>A	ENST00000262753.4	-	15	1774	c.1629G>T	c.(1627-1629)agG>agT	p.R543S	POF1B_ENST00000373145.3_Missense_Mutation_p.R543S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	543							actin binding	p.R543S(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TAATAGTAGTCCTTCCACCAG	0.279000													4	4					0.014758	0.0150364	1	1	0
CDH9	1007	broad.mit.edu	37	5	26915863	26915863	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:26915863C>A	ENST00000231021.4	-	3	570	c.398G>T	c.(397-399)aGa>aTa	p.R133I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R133I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCCAGTTTTTCTGTCTATAGC	0.368000													43	84					4.33383e-22	6.48075e-22	1	1	0
GPR22	2845	broad.mit.edu	37	7	107114603	107114603	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:107114603C>A	ENST00000304402.4	+	3	1441	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	33						integral to plasma membrane	G-protein coupled receptor activity	p.P33Q(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATGTACCAACCACTATCATAT	0.393000													4	66					0.00024832	0.000269986	1	1	0
SI	6476	broad.mit.edu	37	3	164700105	164700105	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:164700105G>C	ENST00000264382.3	-	47	5403	c.5341C>G	c.(5341-5343)Cct>Gct	p.P1781A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1781	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P1781A(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCATTGACAGGAGTAGTTCCT	0.348000										HNSCC(35;0.089)			11	6					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83252726	83252726	+	Splice_Site	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:83252726T>A	ENST00000398309.2	-	15	2271	c.1802_splice	c.e15+1	p.R601_splice	DLG2_ENST00000376104.2_Splice_Site_p.R706_splice|DLG2_ENST00000330014.6_Splice_Site_p.R540_splice|DLG2_ENST00000530800.1_Splice_Site_p.R110_splice|DLG2_ENST00000376106.3_Splice_Site_p.R83_splice|DLG2_ENST00000532653.1_Splice_Site_p.R601_splice|DLG2_ENST00000537455.1_Splice_Site_p.R355_splice|DLG2_ENST00000531015.1_Splice_Site_p.R568_splice|DLG2_ENST00000524982.1_Splice_Site_p.R601_splice|DLG2_ENST00000543673.1_Splice_Site_p.R706_splice|DLG2_ENST00000280241.8_Splice_Site_p.R640_splice|DLG2_ENST00000404783.3_Splice_Site_p.R83_splice|DLG2_ENST00000398304.1_Splice_Site_p.R83_splice|DLG2_ENST00000418306.2_Splice_Site_p.R498_splice|DLG2_ENST00000426717.2_Splice_Site_p.R83_splice	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	601	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R706W(1)|p.R601W(1)|p.R640W(1)|p.R498W(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATTCTTACCTCCTTTTGCTG	0.473000													15	30					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38127789	38127789	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:38127789C>G	ENST00000301659.4	+	5	689	c.571C>G	c.(571-573)Cac>Gac	p.H191D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	191					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATCCATAAATCACAAGGAGGC	0.507000													13	26					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31086155	31086155	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:31086155T>A	ENST00000597505.1	-	18	2451	c.2452A>T	c.(2452-2454)Agc>Tgc	p.S818C	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.S437C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCAAGGTTGCTGGCACTTTCT	0.413000													12	17					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175640	79175640	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:79175640C>A	ENST00000554719.1	+	4	674	c.183C>A	c.(181-183)ggC>ggA	p.G61G	NRXN3_ENST00000335750.5_Silent_p.G61G|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.G61G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAATCTATGGCGAAGTTGTGT	0.468000													18	32					3.99206e-14	5.54326e-14	1	1	0
GBP4	115361	broad.mit.edu	37	1	89656943	89656943	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:89656943C>A	ENST00000355754.6	-	6	1014		c.e6+1			NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4							cytoplasm	GTP binding|GTPase activity	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AAAAGACTCACGCTTTCCAGT	0.403000													35	27					1.41504e-22	2.12912e-22	1	1	0
MFSD7	84179	broad.mit.edu	37	4	677434	677434	+	Silent	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:677434C>G	ENST00000322224.4	-	7	1270	c.957G>C	c.(955-957)ctG>ctC	p.L319L	MFSD7_ENST00000404286.2_Silent_p.L320L|MFSD7_ENST00000347950.5_Silent_p.L201L|MFSD7_ENST00000503156.1_Silent_p.L255L|MFSD7_ENST00000515118.1_Silent_p.L223L			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	320					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGAACAGGCACAGGCCAATCT	0.642000													3	18					0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228645844	228645844	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:228645844C>A	ENST00000369160.2	+	1	37	c.14C>A	c.(13-15)tCc>tAc	p.S5Y		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	5					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S5Y(1)		skin(1)	1		Prostate(94;0.183)				CCAGACCCGTCCAAATCGGCT	0.527000													20	11					1.00905e-13	1.39714e-13	1	1	0
CCDC89	220388	broad.mit.edu	37	11	85397158	85397158	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:85397158G>A	ENST00000316398.3	-	1	162	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	6						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGTTTCTGGAGCATAGGCGCT	0.532000													6	41					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133375049	133375049	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:133375049G>T	ENST00000204726.3	-	9	2373	c.1815C>A	c.(1813-1815)acC>acA	p.T605T	GOLGA3_ENST00000456883.2_Silent_p.T605T|GOLGA3_ENST00000450791.2_Silent_p.T605T|GOLGA3_ENST00000537452.1_Silent_p.T605T|GOLGA3_ENST00000545875.1_Silent_p.T605T	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	605	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.T605T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GACCTGCCTGGGTCATCTGTC	0.522000													15	22					3.52763e-06	4.08197e-06	1	1	0
AMZ1	155185	broad.mit.edu	37	7	2740344	2740344	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:2740344C>A	ENST00000312371.4	+	2	627	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	AMZ1_ENST00000407112.1_Silent_p.R87R	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	87							metallopeptidase activity|zinc ion binding	p.R87R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTGCAGCACCGGAAGCCCCG	0.647000													90	48					3.84086e-47	6.22219e-47	1	1	0
OR56A4	120793	broad.mit.edu	37	11	6023676	6023676	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:6023676T>A	ENST00000330728.4	-	1	748	c.703A>T	c.(703-705)Agt>Tgt	p.S235C		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGGTTACTGCAGATGCAG	0.463000													13	41					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556163	11556163	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:11556163G>T	ENST00000262442.3	+	14	2507	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E813D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	813	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E813D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGTGGAAGAGATCCAAAACA	0.378000													24	15					5.35356e-11	6.95676e-11	1	1	0
BRINP1	1620	broad.mit.edu	37	9	122004412	122004412	+	Silent	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:122004412C>G	ENST00000265922.3	-	4	953	c.492G>C	c.(490-492)ctG>ctC	p.L164L	DBC1_ENST00000373964.2_Silent_p.L164L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		164	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.L164L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGAGCTGGTGCAGAGCTTCAA	0.502000													31	26					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529057	57529057	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:57529057C>A	ENST00000420713.1	+	4	1002	c.890C>A	c.(889-891)aCa>aAa	p.T297K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAACCCTACACATGTGAAGAA	0.428000													3	21					1	1	1	1	0
OR13C4	138804	broad.mit.edu	37	9	107288584	107288584	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:107288584C>A	ENST00000277216.3	-	1	906	c.907G>T	c.(907-909)Gta>Tta	p.V303L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V303L(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCAGCTTTTACATCTTTATTT	0.378000													18	12					3.32936e-07	3.95616e-07	1	1	0
RHOT2	89941	broad.mit.edu	37	16	723512	723512	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:723512C>T	ENST00000315082.4	+	19	1877	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	588	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	p.S588F(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CATCCCTCTTCCTTCTGGCTC	0.627000													39	85					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220036	153220036	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:153220036C>A	ENST00000310441.7	-	17	4780	c.3814G>T	c.(3814-3816)Gtg>Ttg	p.V1272L	HCFC1_ENST00000369984.4_Missense_Mutation_p.V1272L|HCFC1_ENST00000354233.3_Missense_Mutation_p.V1203L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V1175L(1)|p.V1272L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCTGTCACAGTCACTGTG	0.672000													20	26					2.32416e-17	3.40223e-17	1	1	0
KCNB1	3745	broad.mit.edu	37	20	47990627	47990627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:47990627C>T	ENST00000371741.4	-	2	1636	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	490					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCTCTTTGTCCATTTCCATT	0.433000													8	80					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906334	120906334	+	RNA	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:120906334G>T	ENST00000430394.1	+	0	307					NR_027337.1																						GATCCAGACGGCCGTGCGCCT	0.642000													24	36					9.57634e-11	1.23779e-10	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89883723	89883723	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:89883723G>C	ENST00000534061.1	+	5	787	c.557G>C	c.(556-558)tGt>tCt	p.C186S	NAALAD2_ENST00000525171.1_Missense_Mutation_p.C186S|NAALAD2_ENST00000375944.3_Missense_Mutation_p.C186S|NAALAD2_ENST00000321955.4_Missense_Mutation_p.C186S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	186					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.C186S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGCATCAACTGTACTGGGAAG	0.313000													5	30					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55064955	55064955	+	RNA	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:55064955C>T	ENST00000526016.1	-	0	470					NR_038174.2																						CGGTACTAACCTTCCAGCATC	0.413000													9	13					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102164889	102164889	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:102164889T>A	ENST00000299314.7	-	8	1080	c.818A>T	c.(817-819)aAc>aTc	p.N273I	GNPTAB_ENST00000549940.1_Missense_Mutation_p.N273I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	273					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.N273I(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTTGGGGTTATTCAGTTT	0.368000													10	17					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230524	39230524	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:39230524C>G	ENST00000340369.3	-	2	641	c.413G>C	c.(412-414)aGc>aCc	p.S138T	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S138T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	138							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGTCTGTGCTGTTGGCAAA	0.617000													6	43					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870358	4870358	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:4870358G>T	ENST00000322101.2	-	1	156	c.81C>A	c.(79-81)ggC>ggA	p.G27G	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G27G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCTGATAGGCCTGGCATGC	0.542000													43	59					5.20006e-24	7.99756e-24	1	1	0
KCNB1	3745	broad.mit.edu	37	20	47990687	47990687	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:47990687C>A	ENST00000371741.4	-	2	1576	c.1410G>T	c.(1408-1410)gaG>gaT	p.E470D		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	470					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E470D(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACCCATATTCTCCCCATTTT	0.433000													16	61					6.49762e-13	8.8455e-13	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100731915	100731915	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:100731915A>T	ENST00000306085.6	+	3	1619	c.1322A>T	c.(1321-1323)cAg>cTg	p.Q441L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	441					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.Q441L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GACAGGGCCCAGACACCCCAC	0.607000													10	10					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47322210	47322210	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:47322210C>A	ENST00000295454.3	+	5	820	c.528C>A	c.(526-528)acC>acA	p.T176T	GABRB1_ENST00000538619.1_Silent_p.T106T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	176					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L177M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGAACTGCACCCTGGAGATCG	0.413000													16	21					5.35356e-11	6.95676e-11	1	1	0
GIMAP5	55340	broad.mit.edu	37	7	150439330	150439330	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:150439330A>C	ENST00000358647.3	+	3	470	c.103A>C	c.(103-105)Aaa>Caa	p.K35Q	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.K35Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTAGTGGGCAAAACAGGCTG	0.493000													21	46					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100904145	100904145	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:100904145T>A	ENST00000370552.3	-	3	519	c.460A>T	c.(460-462)Agt>Tgt	p.S154C	HPSE2_ENST00000370549.1_Missense_Mutation_p.S154C|HPSE2_ENST00000370546.1_Missense_Mutation_p.S154C|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	154					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCAACATCACTTCGAACAATG	0.403000													8	33					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167419	64167419	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:64167419G>T	ENST00000395391.1	+	4	2112	c.737G>T	c.(736-738)tGt>tTt	p.C246F	ZNF107_ENST00000423627.1_Missense_Mutation_p.C246F|ZNF107_ENST00000344930.3_Missense_Mutation_p.C246F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C246F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTCTACAAGTGTAAAGAATGT	0.373000													8	16					0.000157383	0.000172271	1	1	0
ANK1	286	broad.mit.edu	37	8	41582018	41582018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:41582018G>A	ENST00000396942.1	-	7	750	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ANK1_ENST00000352337.4_Nonsense_Mutation_p.Q223*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.Q223*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q223*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q256*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.Q223*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.Q223*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	223	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.Q256*(1)|p.Q223*(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGAGCAACTGGGCCACGTTG	0.577000													6	14					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343380	248343380	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248343380C>A	ENST00000359682.2	+	1	93	c.93C>A	c.(91-93)gtC>gtA	p.V31V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V31V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TCTTTCTGGTCCTGGGCATCT	0.512000													113	61					1.24258e-46	2.0063e-46	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34205613	34205613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:34205613C>A	ENST00000257209.4	+	10	1219	c.1097C>A	c.(1096-1098)tCg>tAg	p.S366*	FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S366*|FHOD3_ENST00000591635.1_Silent_p.R41R|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S366*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	366	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S366*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCAGGCACTCGGTGCAGAGC	0.677000													23	36					1.22574e-08	1.5158e-08	1	1	0
EGFR	1956	broad.mit.edu	37	7	55220240	55220240	+	Splice_Site	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:55220240G>T	ENST00000275493.2	+	6	807	c.628_splice	c.e6-1	p.L210_splice	EGFR_ENST00000344576.2_Splice_Site_p.L210_splice|EGFR_ENST00000442591.1_Splice_Site_p.L210_splice|EGFR_ENST00000455089.1_Splice_Site_p.L165_splice|EGFR_ENST00000420316.2_Splice_Site_p.L210_splice|EGFR_ENST00000454757.2_Splice_Site_p.L157_splice|EGFR_ENST00000342916.3_Splice_Site_p.L210_splice	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	210					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L210L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTTTTCAGTGACCAAAATCA	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			21	188					2.12542e-12	2.8456e-12	1	1	0
CDH18	1016	broad.mit.edu	37	5	19503202	19503202	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:19503202C>G	ENST00000507958.1	-	13	2519	c.1529G>C	c.(1528-1530)aGt>aCt	p.S510T	CDH18_ENST00000506372.1_Missense_Mutation_p.S510T|CDH18_ENST00000502796.1_Missense_Mutation_p.S510T|CDH18_ENST00000511273.1_Missense_Mutation_p.S510T|CDH18_ENST00000274170.4_Missense_Mutation_p.S510T|CDH18_ENST00000382275.1_Missense_Mutation_p.S510T			Q13634	CAD18_HUMAN	cadherin 18, type 2	510	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S510T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATCAGTGGCACTGATGGTATG	0.323000													18	22					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103988241	103988241	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:103988241A>G	ENST00000388887.2	+	3	488	c.284A>G	c.(283-285)tAt>tGt	p.Y95C		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	95					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.Y95C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAAGGACTATCTCCAACCT	0.507000													32	88					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36634000	36634000	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:36634000C>T	ENST00000246533.3	+	6	1024	c.426C>T	c.(424-426)gaC>gaT	p.D142D	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.D112D|CAPNS1_ENST00000587718.1_Silent_p.D142D|CAPNS1_ENST00000588815.1_Silent_p.D142D|CAPNS1_ENST00000588780.1_Silent_p.D142D	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	142	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D142D(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGCATTGACACATGTCGCA	0.527000													234	63					0	0	1	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011073	23011073	+	RNA	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:23011073C>A	ENST00000390304.2	+	0	174																											AGGAGATGTACTGGCAAAAAA	0.552000													74	62					2.73218e-42	4.38231e-42	1	1	0
ZNF594	84622	broad.mit.edu	37	17	5086105	5086105	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:5086105T>C	ENST00000399604.4	-	1	1587	c.1447A>G	c.(1447-1449)Act>Gct	p.T483A	ZNF594_ENST00000575779.1_Missense_Mutation_p.T483A			Q96JF6	ZN594_HUMAN	zinc finger protein 594	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T483A(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTCTCCAGTATGGATTTTC	0.463000													23	9					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183665138	183665138	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:183665138C>A	ENST00000334444.6	-	23	3628	c.3388G>T	c.(3388-3390)Ggt>Tgt	p.G1130C	ABCC5_ENST00000265586.6_Missense_Mutation_p.G1087C	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1130	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.G1130C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGGCGAGACCCGCATAGGCT	0.562000													15	9					1.64113e-05	1.85919e-05	1	1	0
FRMD8	83786	broad.mit.edu	37	11	65168302	65168302	+	Silent	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:65168302A>T	ENST00000317568.5	+	9	1198	c.1035A>T	c.(1033-1035)acA>acT	p.T345T	FRMD8_ENST00000355991.5_Silent_p.T289T|FRMD8_ENST00000416776.2_Silent_p.T311T	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	345	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GCGAGGGCACACCTGTCAACA	0.662000													7	25					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20763513	20763513	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:20763513C>A	ENST00000258821.3	-	8	1072	c.1016G>T	c.(1015-1017)gGa>gTa	p.G339V		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	339					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TACCACCTTTCCCAGGATGAC	0.522000													7	37					0.307466	0.309376	1	1	0
FAM120A	23196	broad.mit.edu	37	9	96312945	96312945	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:96312945A>T	ENST00000277165.6	+	12	2440	c.2246A>T	c.(2245-2247)tAc>tTc	p.Y749F	FAM120A_ENST00000333936.5_Missense_Mutation_p.Y777F|FAM120A_ENST00000340893.4_Missense_Mutation_p.Y749F	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	749						cytoplasm|plasma membrane	RNA binding	p.Y749F(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCAAACTCTACGAGCCTGAT	0.537000													18	10					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994583	140994583	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:140994583A>T	ENST00000285879.4	+	4	1679	c.1393A>T	c.(1393-1395)Aga>Tga	p.R465*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	465							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCCTGAGAGAACTCACAG	0.478000										HNSCC(15;0.026)			4	81					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921270	24921270	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:24921270C>A	ENST00000329468.2	+	1	730	c.256C>A	c.(256-258)Ccg>Acg	p.P86T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P86T(1)									GGGGGTCCTGCCGGCTGTGGG	0.687000													12	9					4.3838e-07	5.17118e-07	1	1	0
LY6K	54742	broad.mit.edu	37	8	143783127	143783127	+	Silent	SNP	C	C	T	rs149689649		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:143783127C>T	ENST00000522591.1	+	2	269	c.213C>T	c.(211-213)gcC>gcT	p.A71A	LY6K_ENST00000519387.1_Silent_p.A71A|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000292430.6_Silent_p.A71A|LY6K_ENST00000518841.1_Silent_p.A71A|LY6K_ENST00000561179.1_Silent_p.A129A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	71	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTATAGCGGCCGTGAGTGAGT	0.488000													8	16					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377424	138377424	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:138377424G>A	ENST00000356818.2	+	4	1617	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PPP1R26_ENST00000604351.1_Silent_p.A356A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.A356A|PPP1R26_ENST00000605660.1_Silent_p.A356A|PPP1R26_ENST00000605286.1_Silent_p.A356A	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	356						nucleolus	protein binding										CGGCACAGGCGTCCGAGGCGT	0.632000													21	38					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95395390	95395390	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:95395390C>A	ENST00000371447.3	+	10	1544	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	469					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S469Y(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GAAATTAAGTCCATTTTGGTA	0.393000													16	28					2.94398e-08	3.60397e-08	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79117986	79117986	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:79117986T>C	ENST00000442371.1	+	3	1628	c.689T>C	c.(688-690)gTc>gCc	p.V230A	GCNT1_ENST00000444201.2_Missense_Mutation_p.V230A|GCNT1_ENST00000536223.1_Missense_Mutation_p.V230A|GCNT1_ENST00000376730.4_Missense_Mutation_p.V230A	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	230	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.V230A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTAGAAATTGTCAGGAAGCTC	0.408000													16	15					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775523	77775523	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:77775523C>T	ENST00000564085.1	+	5	556	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Silent_p.N78N|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000268533.5_Silent_p.N131N	NM_001243657.1	NP_001230586.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	0	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.N131N(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TAGACCACAACTTCCAGGCCC	0.428000													12	33					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845618	44845618	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:44845618C>A	ENST00000372262.3	-	4	1085	c.685G>T	c.(685-687)Gct>Tct	p.A229S	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.A229S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	229	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A229S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCAGGCACAGCCGTCCGGATT	0.657000													15	66					7.05477e-17	1.02042e-16	1	1	0
SIX4	51804	broad.mit.edu	37	14	61180433	61180433	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:61180433T>C	ENST00000216513.4	-	3	2097	c.2038A>G	c.(2038-2040)Atg>Gtg	p.M680V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	680						nucleus		p.M680V(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCCTGAGTCATAGGGACTGAC	0.473000													7	32					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160951194	160951194	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:160951194T>A	ENST00000460469.1	+	4	739	c.284T>A	c.(283-285)cTt>cAt	p.L95H	NMD3_ENST00000351193.2_Missense_Mutation_p.L95H|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.L95H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	95					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AAGGTACGGCTTGTAGATGCA	0.348000													10	5					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394972	29394972	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:29394972G>T	ENST00000377149.1	-	5	919	c.447C>A	c.(445-447)acC>acA	p.T149T	OR11A1_ENST00000377148.1_Silent_p.T149T|OR11A1_ENST00000377147.2_Silent_p.T149T|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T149T(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAGAGAGCCAGGTTGTGACCA	0.557000													49	28					1.27862e-28	1.9981e-28	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994585	140994585	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:140994585A>T	ENST00000285879.4	+	4	1681	c.1395A>T	c.(1393-1395)agA>agT	p.R465S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	465							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTGAGAGAACTCACAGTA	0.483000										HNSCC(15;0.026)			4	82					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071625	132071625	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:132071625C>A	ENST00000336375.5	+	9	1016	c.926C>A	c.(925-927)cCc>cAc	p.P309H	ACPP_ENST00000475741.1_Missense_Mutation_p.P276H|ACPP_ENST00000351273.7_Missense_Mutation_p.P309H	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	309						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTCCTTCCTCCCTATGCTTCT	0.418000													5	50					1	1	1	1	0
TGM4	7047	broad.mit.edu	37	3	44951735	44951735	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:44951735T>G	ENST00000296125.4	+	11	1549	c.1481T>G	c.(1480-1482)cTt>cGt	p.L494R		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	494					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L494R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACCGTGATTCTTAAAAGGAAG	0.448000													27	28					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60903630	60903630	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:60903630A>G	ENST00000321731.3	-	18	1856	c.1697T>C	c.(1696-1698)aTa>aCa	p.I566T		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	566								p.I566T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGAAGAAGGTATTGAATTTTG	0.294000													26	62					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197595	142197595	+	RNA	SNP	C	C	A	rs76976752		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142197595C>A	ENST00000471935.1	-	0	382																											CAGAGATACACGGCCGAGTCC	0.512000													8	198					7.93312e-07	9.2458e-07	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35593129	35593129	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:35593129G>T	ENST00000557565.1	+	2	1059	c.678G>T	c.(676-678)tgG>tgT	p.W226C	KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Missense_Mutation_p.W131C|KIAA0391_ENST00000603544.1_Missense_Mutation_p.W226C|KIAA0391_ENST00000250377.7_Missense_Mutation_p.W131C|KIAA0391_ENST00000534898.4_Missense_Mutation_p.W226C|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Missense_Mutation_p.W226C			O15091	MRRP3_HUMAN	KIAA0391	226					tRNA processing	mitochondrion		p.W226C(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CAGACAGATGGAGAGAAGCAT	0.373000													6	26					0.27861	0.281507	1	1	0
CCDC135	84229	broad.mit.edu	37	16	57756693	57756693	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:57756693G>A	ENST00000360716.3	+	11	1569	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	CCDC135_ENST00000336825.8_Missense_Mutation_p.A385T|CCDC135_ENST00000394337.4_Missense_Mutation_p.A450T			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	450						cytoplasm		p.A450T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGTGGGCCCCGTACCT	0.567000													21	34					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65188410	65188410	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:65188410G>T	ENST00000381210.3	-	4	542	c.432C>A	c.(430-432)acC>acA	p.T144T	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.T144T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	144					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.T144T(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CACTTACTGTGGTCCAACTGA	0.343000													22	21					9.90768e-06	1.13564e-05	1	1	0
MORC1	27136	broad.mit.edu	37	3	108773682	108773682	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:108773682A>G	ENST00000232603.5	-	14	1305	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T	MORC1_ENST00000483760.1_Missense_Mutation_p.M408T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	408					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGATGGTTCCATGACCTCCAA	0.363000													5	31					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141201	167141201	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:167141201C>A	ENST00000375387.4	-	12	2079	c.1739G>T	c.(1738-1740)gGa>gTa	p.G580V	SCN9A_ENST00000409672.1_Missense_Mutation_p.G579V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.G580V|SCN9A_ENST00000409435.1_Missense_Mutation_p.G579V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	579						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G579V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCATTGTCTCCAAAAATGCT	0.507000													6	48					0.00116845	0.00122121	1	1	0
ZNF488	118738	broad.mit.edu	37	10	48371205	48371205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:48371205C>T	ENST00000395702.2	+	2	900	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.Q118*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q225*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCATTGCCACAGAATGCTCC	0.547000													22	27					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032047	142032047	+	RNA	SNP	A	A	C	rs150998656	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142032047A>C	ENST00000547918.2	+	0	42																											CCATGGGCACAAGGCTCCTCT	0.562000													6	47					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													4	54					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43556025	43556025	+	Silent	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:43556025A>T	ENST00000306846.3	-	2	574	c.342T>A	c.(340-342)gcT>gcA	p.A114A	PAIP1_ENST00000514514.1_Silent_p.A35A|PAIP1_ENST00000338972.4_Silent_p.A2A|PAIP1_ENST00000436644.2_Silent_p.A35A	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	114					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CCTGGGGCTTAGCCATTGCTG	0.468000													25	232					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685220	248685220	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248685220C>A	ENST00000343414.4	+	1	305	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACAAAACCATGAGCTACG	0.517000													59	96					1.52808e-22	2.29212e-22	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112611	248112611	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248112611G>T	ENST00000357191.3	+	1	452	c.452G>T	c.(451-453)gGc>gTc	p.G151V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGATCATAGGCTCGATCAAT	0.448000													100	225					6.64951e-56	1.09178e-55	1	1	0
F5	2153	broad.mit.edu	37	1	169510354	169510354	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:169510354A>G	ENST00000367796.3	-	13	4190	c.3989T>C	c.(3988-3990)cTc>cCc	p.L1330P	F5_ENST00000367797.3_Missense_Mutation_p.L1325P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1325	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.512000													8	336					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52720687	52720687	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:52720687T>A	ENST00000399231.3	-	3	461	c.218A>T	c.(217-219)gAc>gTc	p.D73V	MYO5A_ENST00000399233.2_Missense_Mutation_p.D73V|MYO5A_ENST00000358212.6_Missense_Mutation_p.D73V|MYO5A_ENST00000553916.1_Missense_Mutation_p.D73V|MYO5A_ENST00000356338.6_Missense_Mutation_p.D73V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	73	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D73V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCTGTGAGGTCATTTTCACC	0.423000													12	60					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48369172	48369172	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:48369172G>T	ENST00000380518.3	-	51	3978	c.3814C>A	c.(3814-3816)Ccc>Acc	p.P1272T	COL2A1_ENST00000337299.6_Missense_Mutation_p.P1203T|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1272	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P1203T(1)|p.P1272T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGCCCTCGGGGCTGCGGATG	0.622000													28	22					3.90053e-15	5.57546e-15	1	1	0
OR10A3	26496	broad.mit.edu	37	11	7960523	7960523	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:7960523G>C	ENST00000360759.3	-	1	618	c.545C>G	c.(544-546)cCc>cGc	p.P182R		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182L(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTACCGGGGGAGTCTCACA	0.438000													24	30					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95080889	95080889	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:95080889G>T	ENST00000553947.1	+	5	1074	c.186G>T	c.(184-186)gaG>gaT	p.E62D	SERPINA3_ENST00000467132.1_Missense_Mutation_p.E37D|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E37D|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E37D			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	37					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E37D(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGACCCAGGAGAACCAAGACC	0.587000													30	73					3.76114e-14	5.23757e-14	1	1	0
CR2	1380	broad.mit.edu	37	1	207647191	207647191	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:207647191G>C	ENST00000367057.3	+	12	2390	c.2201G>C	c.(2200-2202)gGt>gCt	p.G734A	CR2_ENST00000367058.3_Missense_Mutation_p.G675A|CR2_ENST00000458541.2_Missense_Mutation_p.G648A|CR2_ENST00000367059.3_Missense_Mutation_p.G675A	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	796	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G734A(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTCCAGCTGGTTCACGTGTG	0.413000													14	47					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53010452	53010452	+	Silent	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:53010452G>C	ENST00000378060.4	-	4	351	c.324C>G	c.(322-324)ctC>ctG	p.L108L	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	108	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.L108L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTTGAAGGAGAGTTTGATGT	0.428000													5	9					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33049567	33049567	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:33049567G>T	ENST00000340811.4	-	1	207	c.99C>A	c.(97-99)ccC>ccA	p.P33P	PKP2_ENST00000070846.6_Silent_p.P33P	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	33					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.P33P(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGCCTCGGAGGGCAGCGCCA	0.706000													4	5					1.23904e-05	1.41024e-05	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169446070	169446070	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:169446070C>T	ENST00000256935.8	+	33	3419	c.3339C>T	c.(3337-3339)gaC>gaT	p.D1113D	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.D174D|DOCK2_ENST00000520908.1_Silent_p.D605D	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1113	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.D1113D(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCTTCGACATGATGCTGT	0.463000													35	50					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050300	39050300	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:39050300G>A	ENST00000295373.6	-	17	3252	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1042							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D1042D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGCTCCTAAGTCTCGTAATC	0.448000													15	60					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139522	68139522	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:68139522C>A	ENST00000262215.3	-	27	4155	c.3766G>T	c.(3766-3768)Gtt>Ttt	p.V1256F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.V710F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.V94F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1256					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.V1256F(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACCGTACAACCATATCTCGA	0.358000													43	101					1.46357e-32	2.31693e-32	1	1	0
TENM2	57451	broad.mit.edu	37	5	167675312	167675312	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:167675312C>A	ENST00000519204.1	+	26	7123	c.7005C>A	c.(7003-7005)aaC>aaA	p.N2335K	TENM2_ENST00000518659.1_Missense_Mutation_p.N2456K|TENM2_ENST00000520394.1_Missense_Mutation_p.N2217K|TENM2_ENST00000403607.2_Missense_Mutation_p.N2280K|TENM2_ENST00000545108.1_Missense_Mutation_p.N2455K					teneurin transmembrane protein 2																		CCCCCTTTAACCTGTATATGT	0.517000													12	6					2.62699e-14	3.66872e-14	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70949913	70949913	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:70949913T>C	ENST00000334414.6	-	19	4774	c.4730A>G	c.(4729-4731)cAa>cGa	p.Q1577R	PTPRB_ENST00000451516.2_Missense_Mutation_p.Q1269R|PTPRB_ENST00000261266.5_Missense_Mutation_p.Q1359R|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q1269R|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q1269R|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q1489R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1359					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1359R(2)|p.Q1577R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCAGGTTTTGTATCTTGTC	0.453000													10	11					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871474	51871474	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:51871474G>A	ENST00000371497.5	+	2	2364	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	TSHZ2_ENST00000329613.6_Missense_Mutation_p.D490N|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D490N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	493					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D493N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAACCTTTAGACCCTACAAT	0.408000													15	56					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12183494	12183494	+	RNA	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:12183494C>T	ENST00000432424.2	+	0	697							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	p.V106V(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAAAGGTTGTCCGGTAAGGGT	0.493000													15	21					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120351059	120351059	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:120351059A>G	ENST00000397843.2	+	38	4323	c.4157A>G	c.(4156-4158)gAa>gGa	p.E1386G	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1283G|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1367G	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1386					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E1386G(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATGCCCGTGAAGCACATAGT	0.438000			T	MLL	AML								13	53					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603978	140603978	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:140603978G>T	ENST00000239449.4	+	1	901	c.901G>T	c.(901-903)Gtt>Ttt	p.V301F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.V148F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V301F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGGGAAGTTAATTTGAG	0.368000													10	12					6.40141e-05	7.15192e-05	1	1	0
UTS2R	2837	broad.mit.edu	37	17	80333290	80333290	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:80333290C>G	ENST00000313135.2	+	1	1138	c.1090C>G	c.(1090-1092)Cca>Gca	p.P364A		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	364						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TTCCTGCAGCCCACAGCCCAC	0.801000													5	34					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109694035	109694035	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:109694035G>T	ENST00000338432.7	+	45	6376	c.6257G>T	c.(6256-6258)cGa>cTa	p.R2086L	ACACB_ENST00000543201.1_Missense_Mutation_p.R752L|ACACB_ENST00000377848.3_Missense_Mutation_p.R2086L|ACACB_ENST00000377854.5_Missense_Mutation_p.R2016L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2086	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R2086L(1)|p.R752L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTGACAGGACGAGCAAGGTAA	0.592000													19	20					2.37509e-13	3.26072e-13	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7608274	7608274	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:7608274T>C	ENST00000256861.6	-	13	2324	c.2246A>G	c.(2245-2247)aAc>aGc	p.N749S	ITIH5_ENST00000298441.6_Missense_Mutation_p.N535S|ITIH5_ENST00000446830.2_Missense_Mutation_p.N531S|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.N749S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTGGCTTGTTGATGAGGAT	0.547000													4	12					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29596369	29596369	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:29596369T>G	ENST00000318184.5	-	25	3081	c.3082A>C	c.(3082-3084)Atg>Ctg	p.M1028L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1028					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.M1028L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTGGCTTCATCGGGAAGTTA	0.358000													19	64					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29247185	29247185	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:29247185G>T	ENST00000379558.4	+	13	2149	c.1798G>T	c.(1798-1800)Gtg>Ttg	p.V600L	FAM179A_ENST00000403861.2_Missense_Mutation_p.V545L|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	600							binding	p.V600L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGGCTATGGTGGAGAATGT	0.632000													10	17					1.08611e-07	1.30012e-07	1	1	0
PRKRA	8575	broad.mit.edu	37	2	179315752	179315752	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:179315752G>T	ENST00000325748.4	-	1	206	c.6C>A	c.(4-6)tcC>tcA	p.S2S	PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000470200.1_Intron	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	2	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	p.S2S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			GCCTGCTCTGGGACATGGCGA	0.741000													5	5					0.000602214	0.000640429	1	1	0
ELMO2	63916	broad.mit.edu	37	20	45003068	45003068	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:45003068C>A	ENST00000372176.1	-	15	1386	c.918G>T	c.(916-918)gaG>gaT	p.E306D	ELMO2_ENST00000454865.2_Missense_Mutation_p.E126D|ELMO2_ENST00000396391.1_Missense_Mutation_p.E394D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E392D|ELMO2_ENST00000439931.2_Missense_Mutation_p.E406D|ELMO2_ENST00000290246.6_Missense_Mutation_p.E394D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E211D			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	394					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.E394D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGCTACTGTTCTCCAAGACAA	0.542000													18	49					5.03518e-11	6.59595e-11	1	1	0
ST8SIA1	6489	broad.mit.edu	37	12	22354578	22354578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:22354578C>A	ENST00000396037.4	-	5	1460	c.979G>T	c.(979-981)Gaa>Taa	p.E327*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E184*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	327					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E327*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TGGAGAAATTCCTCGGGCATG	0.498000													20	36					1.9806e-07	2.36504e-07	1	1	0
PSG9	5678	broad.mit.edu	37	19	43762451	43762451	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:43762451G>T	ENST00000244293.7	-	4	933	c.867C>A	c.(865-867)ccC>ccA	p.P289P	PSG9_ENST00000443718.3_Silent_p.P289P|PSG9_ENST00000418820.2_Silent_p.P289P|PSG9_ENST00000291752.5_Silent_p.P196P|PSG9_ENST00000270077.3_Silent_p.P382P|PSG9_ENST00000596730.1_Silent_p.P196P|PSG9_ENST00000593948.1_Silent_p.P289P			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	298	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P382P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TAGTAATTTGGGGGATAAAGA	0.443000													33	62					6.70999e-13	9.10909e-13	1	1	0
UMOD	7369	broad.mit.edu	37	16	20360442	20360442	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:20360442G>T	ENST00000396134.2	-	4	403	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	UMOD_ENST00000302509.4_Missense_Mutation_p.L61M|UMOD_ENST00000424589.1_Missense_Mutation_p.L94M|UMOD_ENST00000570689.1_Missense_Mutation_p.L61M|UMOD_ENST00000396142.2_Missense_Mutation_p.L61M|UMOD_ENST00000396138.4_Missense_Mutation_p.L110M	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	61	EGF-like 2; calcium-binding (Potential).		VCPEG -> AASC (in MCKD2).		cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACGCAGGTCAGGCCATCGCCG	0.612000													14	17					3.51602e-12	4.69446e-12	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028699	37028699	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:37028699G>A	ENST00000358047.3	+	1	2268	c.2216G>A	c.(2215-2217)cGc>cAc	p.R739H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	739										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.637000													3	21					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364914	11364914	+	Silent	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:11364914G>C	ENST00000304623.8	-	8	1455	c.1266C>G	c.(1264-1266)ccC>ccG	p.P422P	CTNND2_ENST00000359640.2_Silent_p.P422P|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.P85P|CTNND2_ENST00000511377.1_Silent_p.P331P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	422					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P422P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTCATAGATGGGATCTATGT	0.607000													10	55					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120596248	120596248	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:120596248A>T	ENST00000427067.2	-	16	1577	c.1397T>A	c.(1396-1398)tTt>tAt	p.F466Y	ENPP2_ENST00000522167.1_Missense_Mutation_p.F109Y|ENPP2_ENST00000259486.6_Missense_Mutation_p.F522Y|ENPP2_ENST00000522826.1_Missense_Mutation_p.F470Y|ENPP2_ENST00000075322.6_Missense_Mutation_p.F470Y			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	470					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCCTGGAAAAAGCATTTTCC	0.338000													19	140					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131130904	131130904	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:131130904T>C	ENST00000357668.1	-	18	1652	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y542C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	542	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.Y542C(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGCAGTGATATATTCTTTTCG	0.333000													3	28					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248113023	248113023	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248113023C>A	ENST00000357191.3	+	1	864	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCCCATCATCTATAGCCTGA	0.498000													36	214					2.37494e-14	3.32629e-14	1	1	0
STX2	2054	broad.mit.edu	37	12	131311793	131311793	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:131311793C>G	ENST00000261653.6	-	2	216	c.50G>C	c.(49-51)gGa>gCa	p.G17A	STX2_ENST00000392373.2_Missense_Mutation_p.G17A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	17					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	p.G17A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTGTGTCTCCATCATCATT	0.353000													24	28					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443311	150443311	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:150443311G>A	ENST00000401000.4	+	10	1874	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	RPRD2_ENST00000539519.1_Silent_p.L603L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.L629L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	629	Ser-rich.						protein binding	p.L629L(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAACTCTTTGGGGTTTACAG	0.498000													14	39					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15514341	15514341	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:15514341G>A	ENST00000397410.4	-	4	371	c.307C>T	c.(307-309)Ccg>Tcg	p.P103S	AKAP8L_ENST00000595465.1_Intron|AKAP8L_ENST00000595136.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	103						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCCAAATGCGGCACCATATCT	0.542000													7	62					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948729	948729	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:948729C>A	ENST00000217260.4	-	2	228	c.132G>T	c.(130-132)gaG>gaT	p.E44D	RSPO4_ENST00000400634.2_Missense_Mutation_p.E44D	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	44					Wnt receptor signaling pathway	extracellular region	heparin binding	p.E44D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AACAGCCGTTCTCCTCTGAGC	0.622000													9	75					0.000673444	0.000713058	1	1	0
NOS2	4843	broad.mit.edu	37	17	26108190	26108190	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:26108190C>A	ENST00000313735.6	-	8	969	c.736G>T	c.(736-738)Gtg>Ttg	p.V246L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	246					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.V246L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGGAACACGGTGATGGCC	0.617000													38	47					1.61572e-30	2.54949e-30	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953329	140953329	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:140953329C>A	ENST00000298296.1	+	2	196	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	66								p.L66M(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCTTTTTCTGAGGGGTGG	0.512000													24	9					1.04121e-07	1.25566e-07	1	1	0
KIAA1614	57710	broad.mit.edu	37	1	180887047	180887047	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:180887047A>G	ENST00000367588.4	+	3	1113	c.1058A>G	c.(1057-1059)aAc>aGc	p.N353S		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	353								p.N353S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCGGCCAGAACAGGTAAGAG	0.562000													9	43					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13011369	13011369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:13011369G>A	ENST00000293695.7	-	4	418	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	134					cell division	central element		p.Q134*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCCATTTTCTGGGTGAACTCT	0.448000													18	20					0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20784496	20784496	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:20784496G>A	ENST00000398169.3	-	5	803	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R63C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	63						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.R63C(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGTTCTGTGCGGACAATATCT	0.502000			T	HMGA2	leiomyoma								15	35					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185958740	185958740	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:185958740G>A	ENST00000271588.4	+	21	3398	c.3169G>A	c.(3169-3171)Gcc>Acc	p.A1057T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1057T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1057	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCAATACAGCCGGCTACGC	0.488000													5	45					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45232551	45232551	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:45232551C>G	ENST00000372217.1	+	19	2214	c.1863C>G	c.(1861-1863)gaC>gaG	p.D621E	KIF2C_ENST00000372218.4_Missense_Mutation_p.D634E|KIF2C_ENST00000372224.4_Missense_Mutation_p.D675E|KIF2C_ENST00000372222.3_Missense_Mutation_p.D562E|RP11-269F19.2_ENST00000428791.1_RNA			Q99661	KIF2C_HUMAN	kinesin family member 2C	675					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CAGACTATGACCTGGAGACCT	0.537000													4	56					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142327036	142327036	+	RNA	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142327036A>T	ENST00000390393.3	+	0	542																											TCTCTGTGCCAGTAGTATAGA	0.532000													28	63					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554584	182554584	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:182554584A>G	ENST00000367559.3	-	2	1611	c.1358T>C	c.(1357-1359)gTg>gCg	p.V453A	RNASEL_ENST00000444138.1_Missense_Mutation_p.V453A|RNASEL_ENST00000539397.1_Missense_Mutation_p.V453A	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	453	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTCATTTTCCACATCTTCCCC	0.483000													4	57					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42744478	42744478	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:42744478C>T	ENST00000372980.3	-	4	2709	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	613	Pro-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTGCAGGCTCGGGGCCTCGG	0.736000													3	12					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													6	27					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727437	141727437	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:141727437T>A	ENST00000475668.2	+	10	1177	c.1123T>A	c.(1123-1125)Tac>Aac	p.Y375N	MGAM_ENST00000549489.2_Missense_Mutation_p.Y375N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	375	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.Y375N(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTTCCCTCCTACTGGGCGCT	0.438000													10	32					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56423276	56423276	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:56423276C>G	ENST00000290649.5	-	9	1307	c.1097G>C	c.(1096-1098)cGt>cCt	p.R366P		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	366					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R366P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TAGCCAGGAACGAAGACAGGA	0.428000													10	22					0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13050438	13050438	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:13050438C>T	ENST00000316448.5	+	3	463	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	130	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	p.I130I(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATACAACATCATGTTTGGTG	0.458000													53	62					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755753	21755753	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:21755753C>T	ENST00000382254.1	-	14	2918	c.1832G>A	c.(1831-1833)gGa>gAa	p.G611E	CDH12_ENST00000504376.2_Missense_Mutation_p.G611E|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.G571E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	611					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G611E(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGCTAAGTCCTACAGGTAG	0.398000										HNSCC(59;0.17)			13	31					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117143439	117143439	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:117143439A>C	ENST00000307564.4	-	2	336	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V	AKNA_ENST00000312033.3_Missense_Mutation_p.F59V|AKNA_ENST00000374088.3_Missense_Mutation_p.F59V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.F59V(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCAGGCGGAAGTCCTCTAGG	0.612000													21	7					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100649235	100649235	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:100649235C>G	ENST00000268070.4	-	14	2080	c.1975G>C	c.(1975-1977)Ggg>Cgg	p.G659R		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	659	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G659R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCGTAGGGCCCGCAGGGTGTA	0.612000													27	22					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392712	26392712	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:26392712G>A	ENST00000356709.4	+	8	1200	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.E363E|BTN2A2_ENST00000352867.2_Silent_p.E247E|BTN2A2_ENST00000482536.1_Silent_p.E153E|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	363	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ACAACCCAGAGAGATTCGACA	0.587000													9	76					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35748527	35748527	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:35748527T>A	ENST00000187397.4	+	10	1204	c.748T>A	c.(748-750)Ttt>Att	p.F250I	ARPP21_ENST00000337271.5_Missense_Mutation_p.F250I|ARPP21_ENST00000458225.1_Missense_Mutation_p.F250I|ARPP21_ENST00000417925.1_Missense_Mutation_p.F250I|ARPP21_ENST00000444190.1_Missense_Mutation_p.F250I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	250						cytoplasm	nucleic acid binding	p.F250I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGAAGCGGTTTATCTTGAA	0.368000													21	15					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	92	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682000													11	143					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78468046	78468046	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:78468046C>A	ENST00000278550.7	-	19	3022	c.2560G>T	c.(2560-2562)Gac>Tac	p.D854Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAGTCAGGGTCCATGCAGTCC	0.522000													4	20					1.024e-07	1.23797e-07	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181754535	181754535	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:181754535G>A	ENST00000526775.1	+	41	5768	c.5603G>A	c.(5602-5604)aGg>aAg	p.R1868K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1838K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1868K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1819K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1887K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1887K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1494K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1887					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAGAAGCAGAGGCAGCAGCTG	0.517000													7	29					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870218	4870218	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:4870218A>G	ENST00000322101.2	-	1	296	c.221T>C	c.(220-222)cTt>cCt	p.L74P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L74P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACACACTAAGCAAGAAGAG	0.572000													38	48					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62292765	62292765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:62292765C>A	ENST00000261517.5	-	16	1424	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E408*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E451*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E408*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	451					protein localization			p.E451*(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATGATTACCTCAACTTGTGCT	0.318000													5	5					8.12818e-05	8.93732e-05	1	1	0
SFTPB	6439	broad.mit.edu	37	2	85890842	85890842	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:85890842G>A	ENST00000342375.3	-	8	936	c.801C>T	c.(799-801)ccC>ccT	p.P267P	SFTPB_ENST00000409383.1_Silent_p.P279P|SFTPB_ENST00000519937.2_Silent_p.P267P|SFTPB_ENST00000393822.3_Silent_p.P279P	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	267	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AGACCAGCTGGGGCAGCATGC	0.672000													16	8					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227423	38227423	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:38227423C>T	ENST00000373048.4	-	3	503	c.504G>A	c.(502-504)gaG>gaA	p.E168E	EPHA10_ENST00000427468.2_Silent_p.E168E|EPHA10_ENST00000319637.6_Silent_p.E168E	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	168						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.E168E(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCTTGCGCTCACCCAGGT	0.692000													23	9					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94039035	94039035	+	Splice_Site	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:94039035G>T	ENST00000297268.6	+	19	1408	c.936_splice	c.e19-1	p.G313_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	313					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G313C(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTTCACAGGGCCTTCCCGG	0.562000										HNSCC(75;0.22)			41	48					4.18559e-23	6.35686e-23	1	1	0
NKD2	85409	broad.mit.edu	37	5	1038188	1038188	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:1038188C>A	ENST00000296849.5	+	10	1285	c.1056C>A	c.(1054-1056)gcC>gcA	p.A352A	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	352	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.A352E(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCGGGAAAGCCTTCAGCTACT	0.721000													6	37					0.00116845	0.00122121	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26423476	26423476	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:26423476C>T	ENST00000335473.7	+	43	7786	c.7536C>T	c.(7534-7536)tcC>tcT	p.S2512S	MYO18B_ENST00000407587.2_Silent_p.S2513S|MYO18B_ENST00000536101.1_Silent_p.S2512S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2512	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.S2513S(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCATCCTCCGGCTCCATCG	0.582000													11	18					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527423	23527423	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:23527423C>G	ENST00000296682.3	+	11	2408	c.2226C>G	c.(2224-2226)caC>caG	p.H742Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	742					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H742Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.587000										HNSCC(3;0.000094)			35	50					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073399	134073399	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:134073399C>A	ENST00000264360.4	+	1	2930	c.2104C>A	c.(2104-2106)Ccc>Acc	p.P702T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	702					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P702T(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCACCAGCGCCCCAGTCGCTC	0.677000													16	37					0.000422831	0.000455645	1	1	0
RFC3	5983	broad.mit.edu	37	13	34404916	34404916	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:34404916G>C	ENST00000380071.3	+	6	764	c.634G>C	c.(634-636)Gct>Cct	p.A212P	RFC3_ENST00000434425.1_Missense_Mutation_p.A212P	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	212					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TTCACAACTGGCTCATAGACT	0.398000													4	15					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827699	56827699	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:56827699C>A	ENST00000229201.4	-	3	263	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	TIMELESS_ENST00000554616.1_Missense_Mutation_p.D37Y|TIMELESS_ENST00000553532.1_Missense_Mutation_p.D37Y	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	37					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.D37Y(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGGATCAGATCCTTCACGCTC	0.522000													15	56					7.05477e-17	1.02042e-16	1	1	0
CRIM1	51232	broad.mit.edu	37	2	36749417	36749417	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:36749417C>A	ENST00000280527.2	+	13	2756	c.2389C>A	c.(2389-2391)Cct>Act	p.P797T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	797	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.P797T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGTGAAAGACCTGTCTTGAG	0.448000													10	97					5.50884e-06	6.3443e-06	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698305	111698305	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:111698305G>T	ENST00000340433.2	+	1	579	c.349G>T	c.(349-351)Gac>Tac	p.D117Y		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	117							nucleic acid binding|zinc ion binding	p.D117Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCTGGGCCTGACAAGAGTAC	0.398000													13	14					1.49906e-05	1.7022e-05	1	1	0
INCENP	3619	broad.mit.edu	37	11	61897387	61897387	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:61897387G>T	ENST00000394818.3	+	4	590	c.388G>T	c.(388-390)Gca>Tca	p.A130S	INCENP_ENST00000278849.4_Missense_Mutation_p.A130S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	130					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	p.A130S(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGCGGCTGCAGCTGCCGC	0.637000													14	68					4.35082e-09	5.46382e-09	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													7	137					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809935	5809935	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:5809935T>A	ENST00000317078.1	-	1	111	c.112A>T	c.(112-114)Agc>Tgc	p.S38C	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S38C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAGCAATGCTGTACATGGTA	0.463000													5	20					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529048	57529048	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:57529048A>G	ENST00000420713.1	+	4	993	c.881A>G	c.(880-882)aAa>aGa	p.K294R		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACTGGAGAGAAACCCTACACA	0.413000													3	22					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353354	113353354	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:113353354G>T	ENST00000458497.1	+	11	2930	c.2651G>T	c.(2650-2652)aGg>aTg	p.R884M	ALPK1_ENST00000177648.9_Missense_Mutation_p.R884M|ALPK1_ENST00000504176.2_Missense_Mutation_p.R806M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	884							ATP binding|protein serine/threonine kinase activity	p.R884M(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTGGTCAGAGGGCGGAGACC	0.562000													11	65					7.03913e-09	8.77183e-09	1	1	0
EMR1	2015	broad.mit.edu	37	19	6924755	6924755	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:6924755G>T	ENST00000312053.4	+	15	1895	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.A443S|EMR1_ENST00000381404.4_Missense_Mutation_p.A568S|EMR1_ENST00000381407.5_Missense_Mutation_p.A479S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	620					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTCGTCTTGGCCATCGCCAC	0.507000													6	17					3.59834e-05	4.02947e-05	1	1	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													4	63					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090752	52090752	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:52090752C>G	ENST00000262259.2	+	5	1526	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	390					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TAGAGAAAAACTCTATGAATG	0.403000													10	44					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79278684	79278684	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:79278684C>A	ENST00000373294.5	+	2	329	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	TBX22_ENST00000373296.3_Missense_Mutation_p.L101M|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373291.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	101					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L101M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGATCTGAACTGTGGAAAAG	0.498000													10	11					0.000978159	0.0010312	1	1	0
INADL	10207	broad.mit.edu	37	1	62329964	62329964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:62329964G>T	ENST00000371158.2	+	20	2608	c.2494G>T	c.(2494-2496)Gat>Tat	p.D832Y	INADL_ENST00000316485.6_Missense_Mutation_p.D832Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	832					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.D832Y(1)		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						ACCATTTCTAGATCTGGGAAA	0.383000													24	17					1.17739e-12	1.58948e-12	1	1	0
KDR	3791	broad.mit.edu	37	4	55955049	55955049	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:55955049C>G	ENST00000263923.4	-	26	3791	c.3496G>C	c.(3496-3498)Gct>Cct	p.A1166P	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1166					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.A1166P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGCATTAGCTTGCAAGAGA	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			13	15					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202493	24202493	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:24202493A>T	ENST00000303531.7	+	16	1957	c.1805A>T	c.(1804-1806)tAt>tTt	p.Y602F	PRKCB_ENST00000321728.7_Missense_Mutation_p.Y602F	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	602	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTTTCCGGTATATTGATTGG	0.463000													9	61					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105732	105105732	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:105105732G>T	ENST00000436393.2	+	21	2996	c.2755G>T	c.(2755-2757)Gat>Tat	p.D919Y	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	373					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGAGGGGCAGATAATGTTTC	0.403000										HNSCC(12;0.0054)			78	87					6.51614e-51	1.06628e-50	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67101689	67101689	+	Silent	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:67101689A>G	ENST00000371037.4	+	4	239	c.162A>G	c.(160-162)aaA>aaG	p.K54K	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	54					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGGAGGAAAAAAAGTTTCGG	0.363000													14	38					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699489	20699489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:20699489G>T	ENST00000298925.5	+	3	304	c.151G>T	c.(151-153)Ggg>Tgg	p.G51W	NELL1_ENST00000532434.1_Missense_Mutation_p.G23W|NELL1_ENST00000325319.5_Missense_Mutation_p.G23W|NELL1_ENST00000357134.5_Missense_Mutation_p.G23W			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	23					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G23W(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGTGGGCTTTGGGATGGACCC	0.502000													7	57					0.00198382	0.00206453	1	1	0
LOC286238	286238	broad.mit.edu	37	9	91262377	91262377	+	RNA	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:91262377A>G	ENST00000418343.2	-	0	374																											GCCACAGGGAAGCATGTCCCG	0.438000													22	14					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191385	72191385	+	Splice_Site	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:72191385A>C	ENST00000555818.1	+	17	4859		c.e17-1		SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site|SIPA1L1_ENST00000554874.1_Splice_Site	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTTTTGTCCAGGCGTCATCA	0.493000													7	16					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325389	152325389	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:152325389C>G	ENST00000388718.5	-	3	4945	c.4873G>C	c.(4873-4875)Gga>Cga	p.G1625R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1625							calcium ion binding|structural molecule activity	p.G1625R(1)		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)			GTGGTATCTCCTATCTGTCCA	0.507000													45	301					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582367	180582367	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:180582367G>C	ENST00000328275.1	+	1	425	c.425G>C	c.(424-426)tGt>tCt	p.C142S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C142S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGGGTCTGTCTCCAGATT	0.522000													10	19					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360458	71360458	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:71360458G>A	ENST00000244230.2	+	2	872	c.520G>A	c.(520-522)Gac>Aac	p.D174N	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D174N	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	174					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTCTGACCTTGACTTTGATAT	0.408000													11	64					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65194383	65194383	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:65194383A>G	ENST00000247226.7	+	2	342	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S12G	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	12	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S12G(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCAGGATGGCAGCCAGGAGCG	0.647000													4	19					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071635	53071635	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:53071635A>T	ENST00000276480.7	-	15	2312	c.1629T>A	c.(1627-1629)aaT>aaA	p.N543K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAGGCAGTCGATTAGGAAATT	0.453000													11	67					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699044	68699044	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:68699044G>T	ENST00000283916.6	-	7	668	c.570C>A	c.(568-570)ggC>ggA	p.G190G	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Silent_p.G73G|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	190	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G190G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAGCCTCAGTGCCTCCAAGGA	0.512000													82	63					1.70349e-48	2.76889e-48	1	1	0
CHTF18	63922	broad.mit.edu	37	16	840253	840253	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:840253A>T	ENST00000317063.6	+	6	1274	c.1274A>T	c.(1273-1275)aAg>aTg	p.K425M	CHTF18_ENST00000262315.9_Missense_Mutation_p.K228M|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Missense_Mutation_p.K256M			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	228					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCCCTGAAGAAGCAGGTCGAC	0.677000													3	8					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2748740	2748740	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:2748740G>A	ENST00000382611.6	-	3	1330	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	IRX2_ENST00000302057.5_Missense_Mutation_p.A361V	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A361V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCCGGTTGAggccggcgcggc	0.736000													11	42					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618340	175618340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:175618340G>T	ENST00000348749.5	-	6	746	c.669C>A	c.(667-669)taC>taA	p.Y223*	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.Y141*|CHRNA1_ENST00000409323.1_Nonsense_Mutation_p.Y223*|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.Y223*|CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.Y248*	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	248					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.Y248*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGACGAAGTGGTAGGTGATGT	0.587000													16	71					1.01871e-10	1.31325e-10	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2694615	2694615	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:2694615G>T	ENST00000320876.6	+	8	1302	c.964G>T	c.(964-966)Gtg>Ttg	p.V322L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V322L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	322					chromosome organization		ATP binding	p.V322L(2)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTTACTGCTGTGGTTATCAC	0.368000													8	15					0.000274275	0.000296217	1	1	0
ALPI	248	broad.mit.edu	37	2	233321897	233321897	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:233321897G>C	ENST00000295463.3	+	5	590	c.513G>C	c.(511-513)caG>caC	p.Q171H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	171					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Q171H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACGGGTGCAGCACGCCTCGC	0.632000													9	44					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110561279	110561279	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:110561279G>T	ENST00000260283.4	-	3	463	c.179C>A	c.(178-180)cCt>cAt	p.P60H	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P34H|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P24H|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P34H|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P24H|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P37H	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	60					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P60H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTGGTAGTAGGCCGTTTTTG	0.373000													4	29					0.000602214	0.000640429	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79117888	79117888	+	Silent	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:79117888C>G	ENST00000442371.1	+	3	1530	c.591C>G	c.(589-591)ctC>ctG	p.L197L	GCNT1_ENST00000444201.2_Silent_p.L197L|GCNT1_ENST00000536223.1_Silent_p.L197L|GCNT1_ENST00000376730.4_Silent_p.L197L	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	197	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.L197L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGGCTGACCTCAACTGCATGA	0.448000													34	30					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603096	26603096	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:26603096C>T	ENST00000252992.4	+	13	2104	c.1973C>T	c.(1972-1974)cCa>cTa	p.P658L	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.P607L	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	658						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CAGGCCCAACCAGGGTCTCCA	0.542000													6	40					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	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)		TGGGAGCAGCTGGGCTTGCAG	0.627000													7	318					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222414	8222414	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:8222414G>A	ENST00000361926.3	+	13	2233	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R708H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	708					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R708L(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTACCTTCCGCCTCTCCCTT	0.607000													7	115					0	0	1	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447864	29447864	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:29447864G>T	ENST00000420504.2	-	2	634	c.477C>A	c.(475-477)ccC>ccA	p.P159P	TMEM200B_ENST00000521452.1_Silent_p.P159P	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	159	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GGCCGTCGGGGGGCCGGAGCG	0.701000													6	1					1.06961e-07	1.28671e-07	1	1	0
NRN1L	123904	broad.mit.edu	37	16	67919707	67919707	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:67919707C>T	ENST00000339176.3	+	2	261	c.162C>T	c.(160-162)atC>atT	p.I54I	NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_RNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	54						anchored to membrane|plasma membrane		p.I54I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AGTGTCTCATCCGCTTGGGGG	0.647000													43	50					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488495	63488495	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:63488495G>C	ENST00000377819.5	+	3	2675	c.2521G>C	c.(2521-2523)Gac>Cac	p.D841H	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D729H|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D822H|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	841					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.D822H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTTCTGACAGACTTCTCAGG	0.383000													13	30					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5364391	5364391	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:5364391G>A	ENST00000225296.3	-	4	917	c.717C>T	c.(715-717)ttC>ttT	p.F239F	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	239	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.F239F(2)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATACTGAGAGAACAGGTCCA	0.512000													23	107					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413665	178413665	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:178413665C>A	ENST00000231188.5	-	8	1768	c.1590G>T	c.(1588-1590)atG>atT	p.M530I	GRM6_ENST00000517717.1_Missense_Mutation_p.M530I|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	530					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGCCCTTCACCATCTTCTTCC	0.682000													17	20					6.94344e-10	8.7878e-10	1	1	0
SPTB	6710	broad.mit.edu	37	14	65239941	65239941	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:65239941C>A	ENST00000389722.3	-	24	5228	c.5175G>T	c.(5173-5175)gtG>gtT	p.V1725V	SPTB_ENST00000556626.1_Silent_p.V1725V|SPTB_ENST00000389721.5_Silent_p.V1725V|SPTB_ENST00000389720.3_Silent_p.V1725V|SPTB_ENST00000542895.1_Silent_p.V1725V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1725					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TACTCACAGTCACGTGGTCAA	0.532000													9	17					3.09899e-07	3.69144e-07	1	1	0
PAM	5066	broad.mit.edu	37	5	102295605	102295605	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:102295605A>T	ENST00000438793.3	+	12	1402	c.932A>T	c.(931-933)aAc>aTc	p.N311I	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.N311I|PAM_ENST00000304400.7_Missense_Mutation_p.N311I|PAM_ENST00000348126.2_Missense_Mutation_p.N311I|PAM_ENST00000274392.9_Missense_Mutation_p.N214I|PAM_ENST00000346918.2_Missense_Mutation_p.N311I	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	311	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GAAATGTGCAACTTATACATT	0.378000													16	25					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924883	55924883	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:55924883C>G	ENST00000244728.5	-	28	2938	c.2541G>C	c.(2539-2541)ttG>ttC	p.L847F	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.L847F|COL21A1_ENST00000370819.1_Missense_Mutation_p.L844F|COL21A1_ENST00000370808.2_Missense_Mutation_p.L213F	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	847	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.L847F(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCTTCCTGGCAAACCAGGTA	0.498000													34	28					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641920	156641920	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:156641920T>A	ENST00000368223.3	-	4	2192	c.2060A>T	c.(2059-2061)gAg>gTg	p.E687V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	687	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCAGTGCCTCCTCATCCCC	0.453000													5	8					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177548806	177548806	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:177548806A>T	ENST00000274605.5	+	5	1798	c.1439A>T	c.(1438-1440)cAg>cTg	p.Q480L		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	480						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCGGGGCCAGGAGCAGGCG	0.677000													4	4					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20392725	20392725	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:20392725C>A	ENST00000202677.6	-	38	5705	c.5563G>T	c.(5563-5565)Gat>Tat	p.D1855Y		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1855					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.D1855Y(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCTGCGAAATCCTCGAATGTC	0.493000													12	73					7.03913e-09	8.77183e-09	1	1	0
TPX2	22974	broad.mit.edu	37	20	30381773	30381773	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:30381773C>G	ENST00000340513.4	+	15	2268	c.1740C>G	c.(1738-1740)gaC>gaG	p.D580E	TPX2_ENST00000300403.6_Missense_Mutation_p.D544E			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	544					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATTCTCGAGACAAAGAACGTC	0.418000													5	46					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092142	1092142	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1092142G>C	ENST00000441003.2	+	30	3988	c.3961G>C	c.(3961-3963)Ggt>Cgt	p.G1321R	MUC2_ENST00000359061.5_Missense_Mutation_p.G1322R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1321						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCGACGACGGTGACCGAGA	0.582000													15	16					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33662024	33662024	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:33662024G>T	ENST00000504830.1	-	6	1372	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T346N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	346	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T346N(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTGTACCTGGTGAGAAGGAC	0.498000										HNSCC(64;0.19)			35	72					1.41504e-22	2.12912e-22	1	1	0
SLC35F1	222553	broad.mit.edu	37	6	118588223	118588223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:118588223C>A	ENST00000360388.4	+	4	744	c.543C>A	c.(541-543)taC>taA	p.Y181*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	181					transport	integral to membrane		p.Y181*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGATCCGGTACAAGGCTGTGC	0.522000													131	113					1.24788e-68	2.06282e-68	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159505764	159505764	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:159505764A>C	ENST00000334857.2	-	1	78	c.34T>G	c.(34-36)Ttc>Gtc	p.F12V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGAAAATGAATTCTGACACT	0.368000													6	50					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805950	169805950	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:169805950T>C	ENST00000274629.4	-	4	776	c.334A>G	c.(334-336)Aat>Gat	p.N112D	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	112					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCTGGTAATTGTCCACGCTG	0.557000													13	32					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46465097	46465097	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:46465097G>C	ENST00000458649.2	-	12	2991	c.2573C>G	c.(2572-2574)aCt>aGt	p.T858S	AMBRA1_ENST00000533727.1_Missense_Mutation_p.T739S|AMBRA1_ENST00000528950.1_Missense_Mutation_p.T829S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.T768S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.T798S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.T829S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.T798S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	858					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCGGTAGGTAGTATTGGCAAT	0.448000													4	25					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232534931	232534931	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:232534931G>T	ENST00000366630.1	-	22	5469	c.5111C>A	c.(5110-5112)aCa>aAa	p.T1704K	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.T760K|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T1704K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1704					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T1704K(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCTGAGCTGTCGCGGTCTG	0.517000													30	22					9.80977e-26	1.52318e-25	1	1	0
HIC2	23119	broad.mit.edu	37	22	21800489	21800489	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:21800489G>T	ENST00000443632.2	+	2	1677	c.1305G>T	c.(1303-1305)gtG>gtT	p.V435V	HIC2_ENST00000407464.2_Silent_p.V435V|HIC2_ENST00000407598.2_Silent_p.V435V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	435					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	p.V435V(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACGAGACGGTGTCCTACGGGG	0.627000													30	140					5.8336e-16	8.36322e-16	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132198072	132198072	+	Splice_Site	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:132198072G>A	ENST00000260818.6	+	25	2959	c.2709_splice	c.e25-1	p.C904_splice		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	904							heat shock protein binding	p.C904Y(1)|p.C287Y(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTCAATAGTGCACAGATAAA	0.308000													17	13					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105797526	105797526	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:105797526C>T	ENST00000393127.2	+	13	2353	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	GRIA4_ENST00000282499.5_Missense_Mutation_p.S636L|GRIA4_ENST00000530497.1_Missense_Mutation_p.S636L|GRIA4_ENST00000525187.1_Missense_Mutation_p.S636L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	636					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S636L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATCATTATATCATCTTATACT	0.408000													15	38					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176239	140176239	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:140176239G>T	ENST00000526136.1	+	1	1690	c.1690G>T	c.(1690-1692)Gca>Tca	p.A564S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A564S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A564S	NM_018905.2	NP_061728.1												p.A564S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGTTGGC	0.697000													18	26					1.22574e-08	1.5158e-08	1	1	0
ROR2	4920	broad.mit.edu	37	9	94493398	94493398	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:94493398C>A	ENST00000375708.3	-	7	1175	c.977G>T	c.(976-978)gGa>gTa	p.G326V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G186V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	326	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.G326V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTTGCCGTTCCTCTGTAATC	0.562000													23	46					1.12875e-08	1.403e-08	1	1	0
ADCY1	107	broad.mit.edu	37	7	45719312	45719312	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:45719312G>T	ENST00000297323.7	+	11	1925	c.1903G>T	c.(1903-1905)Gtg>Ttg	p.V635L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	635					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCCCAGGAGTGTGGTCGTCCT	0.582000													26	27					3.99451e-17	5.81237e-17	1	1	0
SEPT7	989	broad.mit.edu	37	7	35913313	35913313	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:35913313G>T	ENST00000494488.2	+	5	398	c.398G>T	c.(397-399)cGa>cTa	p.R133L	SEPT7_ENST00000469679.2_Missense_Mutation_p.R146L|SEPT7_ENST00000350320.6_Missense_Mutation_p.R146L|SEPT7_ENST00000435235.1_Missense_Mutation_p.R94L|SEPT7_ENST00000399034.2_Missense_Mutation_p.R148L|SEPT7_ENST00000399035.3_Missense_Mutation_p.R146L|SEPT7_ENST00000475109.1_3'UTR			Q16181	SEPT7_HUMAN	septin 7	147					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.R148L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGAATCACGAGTGAACAGA	0.408000													17	11					3.41278e-10	4.35331e-10	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113933860	113933860	+	Silent	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:113933860A>G	ENST00000297405.5	-	10	1873	c.1629T>C	c.(1627-1629)tgT>tgC	p.C543C	CSMD3_ENST00000352409.3_Silent_p.C543C|CSMD3_ENST00000343508.3_Silent_p.C503C|CSMD3_ENST00000455883.2_Silent_p.C439C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	543	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTACCTTTACACACAGGCC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	72					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51192620	51192620	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:51192620G>A	ENST00000382041.3	-	30	6433	c.6243C>T	c.(6241-6243)aaC>aaT	p.N2081N	NIN_ENST00000245441.5_Intron|NIN_ENST00000382043.4_Silent_p.N1368N|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Intron|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991.1	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2081					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.N2087N(1)|p.N2081N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TAAAACTGGAGTTAAAGCTGG	0.373000			T	PDGFRB	MPD								26	106					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112816	59112816	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:59112816G>A	ENST00000395153.3	+	4	1511	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	DACT1_ENST00000556859.1_Missense_Mutation_p.R211K|DACT1_ENST00000395151.3_Missense_Mutation_p.R211K|DACT1_ENST00000541264.2_Missense_Mutation_p.R211K|DACT1_ENST00000335867.4_Missense_Mutation_p.R492K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	492					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R492K(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGTCCTAGCAGAGGCCCTGCC	0.607000													9	68					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238185	3238185	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:3238185C>A	ENST00000217939.6	-	5	5695	c.5541G>T	c.(5539-5541)tgG>tgT	p.W1847C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1847						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCAAGAGACCAGAATTTGG	0.507000													7	10					0.0477658	0.0485652	1	1	0
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525	byFrequency	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:169510502G>T	ENST00000367796.3	-	13	4042	c.3841C>A	c.(3841-3843)Ctt>Att	p.L1281I	F5_ENST00000367797.3_Missense_Mutation_p.L1276I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502000													7	339					1.67942e-08	2.0611e-08	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7049207	7049207	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:7049207G>T	ENST00000389658.3	-	5	731	c.638C>A	c.(637-639)cCc>cAc	p.P213H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	213	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P213H(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACAACTTGGGTGAAAGATC	0.418000													13	75					4.3838e-07	5.17118e-07	1	1	0
TSPAN18	90139	broad.mit.edu	37	11	44941432	44941432	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:44941432C>A	ENST00000340160.3	+	7	736	c.497C>A	c.(496-498)aCc>aAc	p.T166N	TSPAN18_ENST00000520358.2_Missense_Mutation_p.T166N	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	166						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CGACTCCTGACCCTGGATAGT	0.612000													8	103					1.12685e-05	1.28859e-05	1	1	0
TCEA1	6917	broad.mit.edu	37	8	54934621	54934621	+	Splice_Site	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:54934621A>T	ENST00000521604.2	-	1	467		c.e1+1		TCEA1_ENST00000521086.2_Splice_Site|TCEA1_ENST00000522635.1_Splice_Site|TCEA1_ENST00000520534.1_Splice_Site|TCEA1_ENST00000518784.1_Splice_Site|TCEA1_ENST00000396401.3_Splice_Site	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1						positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			cgccgcgcTCACCGCGTTCTT	0.726000			T	PLAG1	salivary adenoma								25	139					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72963077	72963077	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:72963077T>C	ENST00000262209.4	-	15	2048	c.1841A>G	c.(1840-1842)cAt>cGt	p.H614R	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	614						integral to plasma membrane		p.H614R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGGAGAATTATGACTGAAAAT	0.338000													21	50					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895098	89895098	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:89895098T>C	ENST00000435811.1	-	6	1130	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	GABRR1_ENST00000454853.2_Missense_Mutation_p.I243V|GABRR1_ENST00000369451.3_Missense_Mutation_p.I156V	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	243					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.I237V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GAGAGTGAGATCCGTTCATCT	0.493000													14	66					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295179	19295179	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:19295179C>T	ENST00000328405.2	+	2	376	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	37	PAS.					integral to membrane	two-component sensor activity	p.A37V(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCCCAGGTGGCTAAGGGTTTC	0.438000													50	55					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533648	156533648	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:156533648G>T	ENST00000307851.4	-	2	1114	c.384C>A	c.(382-384)gtC>gtA	p.V128V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.V128V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	128						integral to membrane		p.V128V(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTTTGATGACCAACTTCA	0.403000													16	14					1.52009e-12	2.04079e-12	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16895567	16895567	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:16895567C>A	ENST00000430580.2	-	23	3502		c.e23+1		NBPF1_ENST00000420031.2_Splice_Site|NBPF1_ENST00000432949.1_Intron	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGAGTACTCACCGCCTATGTC	0.493000													160	1230					5.82527e-40	9.31277e-40	1	1	0
SUGP1	57794	broad.mit.edu	37	19	19427246	19427246	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:19427246G>A	ENST00000247001.5	-	2	538	c.191C>T	c.(190-192)cCc>cTc	p.P64L	SUGP1_ENST00000334782.5_Missense_Mutation_p.P64L|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	64					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGGATGTGGGGGCTGAGGGCT	0.557000													5	33					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12183496	12183496	+	RNA	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:12183496G>C	ENST00000432424.2	+	0	699							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	p.R107P(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAGGTTGTCCGGTAAGGGTCT	0.498000													15	20					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943470	144943470	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:144943470C>A	ENST00000525985.1	-	2	4023	c.3952G>T	c.(3952-3954)Ggg>Tgg	p.G1318W				P58107	EPIPL_HUMAN	epiplakin 1	1318						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G1318W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGCCTGCCCGAGCTGCTCA	0.647000													26	121					9.04072e-19	1.3355e-18	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683152	50683152	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:50683152G>T	ENST00000008391.3	+	2	591	c.363G>T	c.(361-363)gcG>gcT	p.A121A		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	121							DNA binding|sequence-specific DNA binding transcription factor activity	p.A121A(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATGCGCGGGCGCTCAAGTCGT	0.607000													61	30					7.82978e-24	1.19663e-23	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322518	55322518	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:55322518C>A	ENST00000314644.2	+	1	736	c.736C>A	c.(736-738)Cac>Aac	p.H246N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H246N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CACTGATACTCACATCTTTGG	0.443000										HNSCC(20;0.049)			8	13					5.18039e-06	5.98021e-06	1	1	0
OR10A6	390093	broad.mit.edu	37	11	7949615	7949615	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:7949615C>G	ENST00000309838.2	-	1	594	c.595G>C	c.(595-597)Gca>Cca	p.A199P		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGTGAATGCATAGATTTCA	0.383000													6	28					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33922599	33922599	+	Splice_Site	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:33922599T>A	ENST00000379238.1	-	29	3382		c.e29-2		UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CGAGCCACTCTGAGGAAGAGG	0.602000											OREG0019144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403175	117403175	+	Missense_Mutation	SNP	C	C	G	rs142110596		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:117403175C>G	ENST00000321322.6	-	4	755	c.754G>C	c.(754-756)Gcc>Ccc	p.A252P	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	192	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.A252P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGAGAGGGCGTCCTCCTTC	0.557000													20	41					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368985	158368985	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:158368985T>C	ENST00000334438.1	-	1	271	c.272A>G	c.(271-273)aAg>aGg	p.K91R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGAGATGGTCTTGGTGTCTGA	0.488000													11	28					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412931	105412931	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:105412931C>G	ENST00000333244.5	-	7	8976	c.8857G>C	c.(8857-8859)Gca>Cca	p.A2953P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2953						nucleus		p.A2953P(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)			TCCAGCTTTGCTCTCGGGGCC	0.632000													23	233					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286342	57286342	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:57286342G>C	ENST00000391708.3	-	12	1840	c.1298C>G	c.(1297-1299)gCc>gGc	p.A433G	AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.A433G|ZIM2_ENST00000601070.1_Missense_Mutation_p.A433G|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.A433G|ZIM2_ENST00000593711.1_Missense_Mutation_p.A433G	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.A433G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGCCTCATGGGCTTTGAGATG	0.463000													22	16					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089599	86089599	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:86089599C>G	ENST00000330753.4	+	2	2508	c.1741C>G	c.(1741-1743)Cgg>Ggg	p.R581G	FLRT2_ENST00000554746.1_Missense_Mutation_p.R581G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	581					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAAATACAACCGGGGCCGGCG	0.517000													14	87					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196726445	196726445	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:196726445T>A	ENST00000312428.6	-	42	7832	c.7732A>T	c.(7732-7734)Aga>Tga	p.R2578*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2578	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTACCTTCTTTTCTTTTCT	0.294000													4	4					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290728	5290728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:5290728C>A	ENST00000380237.1	-	4	615	c.271G>T	c.(271-273)Gag>Tag	p.E91*	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Nonsense_Mutation_p.E91*			P02100	HBE_HUMAN	hemoglobin, epsilon 1	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.E91*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGCTCACTCAGCTTA	0.458000													40	80					6.14515e-18	9.05013e-18	1	1	0
STAM2	10254	broad.mit.edu	37	2	153000426	153000426	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:153000426C>T	ENST00000263904.4	-	7	968	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	207	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	p.V207M(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAAGCTCTCACTTTCCGTGCA	0.323000													7	19					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724196	112724196	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:112724196A>T	ENST00000501255.2	-	3	1204	c.581T>A	c.(580-582)aTc>aAc	p.I194N	GPR85_ENST00000297146.2_Missense_Mutation_p.I194N|GPR85_ENST00000449591.1_Missense_Mutation_p.I194N|GPR85_ENST00000424100.1_Missense_Mutation_p.I194N	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	194						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I194N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTAGGAGGATGAGAGCAAG	0.468000													12	15					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109455727	109455727	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:109455727G>C	ENST00000295124.4	+	11	1353	c.1293G>C	c.(1291-1293)tgG>tgC	p.W431C	CCDC138_ENST00000412964.2_Missense_Mutation_p.W431C	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	431										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTATATATTGGTCCCTAAGGC	0.353000													7	29					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647363	33647363	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:33647363G>A	ENST00000558425.1	-	2	236	c.237C>T	c.(235-237)taC>taT	p.Y79Y																								CAGAGTCTGCGTAGTTTGTGT	0.512000													33	176					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230472911	230472911	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:230472911T>A	ENST00000321327.2	-	6	1107	c.1108A>T	c.(1108-1110)Att>Ttt	p.I370F	PGBD5_ENST00000525115.1_Missense_Mutation_p.I271F|PGBD5_ENST00000391860.1_Missense_Mutation_p.I225F			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	271						integral to membrane		p.I370F(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCGTGAAAATGATGTAGTTC	0.597000													39	22					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619701	145619701	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:145619701G>A	ENST00000349769.3	-	32	3731	c.3637C>T	c.(3637-3639)Cac>Tac	p.H1213Y		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1213					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATCATCTGGTGTATGTAGAGC	0.612000													3	17					0	0	1	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083274	107083274	+	RNA	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:107083274G>T	ENST00000455737.1	-	0	369																											AGTAATACACGGCCGTGTCCG	0.592000													35	73					4.84198e-49	7.89665e-49	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115468934	115468934	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:115468934C>A	ENST00000369522.3	+	22	2076	c.1836C>A	c.(1834-1836)aaC>aaA	p.N612K	SYCP1_ENST00000369518.1_Missense_Mutation_p.N612K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	612					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATAAAAACAAGTATATTG	0.269000													6	12					8.12818e-05	8.93732e-05	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112175	248112175	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248112175C>A	ENST00000357191.3	+	1	16	c.16C>A	c.(16-18)Caa>Aaa	p.Q6K	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q6K(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AAATTACAATCAAACATCAAC	0.388000													30	89					2.23313e-29	3.5123e-29	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138594165	138594165	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:138594165G>T	ENST00000298480.5	+	1	135	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	KCNT1_ENST00000487664.1_Missense_Mutation_p.G21C|KCNT1_ENST00000371757.2_Missense_Mutation_p.G21C			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	21						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		gcgcggcgggggcTACACCAA	0.731000													12	10					4.36969e-10	5.55934e-10	1	1	0
SPP2	6694	broad.mit.edu	37	2	234969059	234969059	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:234969059T>G	ENST00000168148.3	+	4	468	c.380T>G	c.(379-381)gTg>gGg	p.V127G	SPP2_ENST00000373368.1_Missense_Mutation_p.V127G	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	127					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCCCAGCAGGTGCAGGGCGTG	0.567000													14	64					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3431341	3431341	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:3431341G>T	ENST00000301365.4	-	11	1612	c.1481C>A	c.(1480-1482)gCc>gAc	p.A494D	TRPV3_ENST00000572519.1_Missense_Mutation_p.A494D|TRPV3_ENST00000576742.1_Missense_Mutation_p.A494D			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	494						integral to membrane	calcium channel activity	p.A494D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGCACATGGCCCAGATGAG	0.632000													22	50					1.75199e-13	2.41208e-13	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11485770	11485770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:11485770G>T	ENST00000423059.3	-	13	3233	c.2982C>A	c.(2980-2982)tgC>tgA	p.C994*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	994	TSP type-1 10.					integral to membrane		p.C994*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATCCTTGTCCGCATTCCTTGA	0.433000										HNSCC(18;0.044)			16	155					1.45105e-14	2.03818e-14	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													6	70					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189091	11189091	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:11189091G>C	ENST00000382435.4	+	1	695	c.476G>C	c.(475-477)tGg>tCg	p.W159S		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	159	DUF6 1.					integral to membrane		p.W159L(1)									GGCTACGAGTGGTGTGGACTG	0.597000													19	112					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927139	23927139	+	Missense_Mutation	SNP	T	T	G	rs1852431		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:23927139T>G	ENST00000402377.3	-	4	1354	c.1213A>C	c.(1213-1215)Aag>Cag	p.K405Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTTGTTAAAAGCT	0.403000													3	37					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160543347	160543347	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:160543347A>G	ENST00000366963.4	+	1	527	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	SLC22A1_ENST00000457470.2_Missense_Mutation_p.Y127C|SLC22A1_ENST00000324965.4_Missense_Mutation_p.Y127C	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	127						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	p.Y127C(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGCTGGGTGTATGACACGCCC	0.567000													27	12					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160972263	160972263	+	Silent	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:160972263G>C	ENST00000274547.2	-	4	424	c.207C>G	c.(205-207)gcC>gcG	p.A69A	GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000517901.1_Silent_p.A6A|GABRB2_ENST00000520240.1_Silent_p.A69A|GABRB2_ENST00000393959.1_Silent_p.A69A|GABRB2_ENST00000353437.6_Silent_p.A69A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	69					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATCGATGCTGGCAATGTCAA	0.453000													6	18					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535812	27535812	+	RNA	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:27535812T>C	ENST00000574842.1	+	0	255																											TTTGTCTCAGTTTGCTTAATA	0.488000													9	35					0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117086345	117086345	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:117086345A>T	ENST00000259396.8	+	3	383	c.305A>T	c.(304-306)gAa>gTa	p.E102V	ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	102					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	p.E102V(1)		endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GTCCAGCGGGAAAATGGGACC	0.542000													49	34					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21183908	21183908	+	Silent	SNP	T	T	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:21183908T>G	ENST00000602326.1	-	23	3760	c.3177A>C	c.(3175-3177)ctA>ctC	p.L1059L	EIF4G3_ENST00000536266.1_Silent_p.L657L|EIF4G3_ENST00000400422.1_Silent_p.L1053L|EIF4G3_ENST00000374935.3_Silent_p.L773L|EIF4G3_ENST00000374937.3_Silent_p.L1059L|EIF4G3_ENST00000264211.8_Silent_p.L1053L|EIF4G3_ENST00000537738.1_Silent_p.L543L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1053					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TAGTGATTTTTAGGAATTTTG	0.438000													20	213					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172712358	172712358	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:172712358C>G	ENST00000422440.2	-	4	348	c.311G>C	c.(310-312)gGa>gCa	p.G104A	SLC25A12_ENST00000392592.4_Intron|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	104	EF-hand 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	p.G104A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGTCACCTCTCCATTTCCACT	0.358000													30	92					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242334	126242334	+	Silent	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:126242334T>C	ENST00000394329.3	+	1	4781	c.4768T>C	c.(4768-4770)Ttg>Ctg	p.L1590L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1590	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1590L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCTTCAGCGTTGGTGCCTTC	0.453000													12	81					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139628257	139628257	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:139628257A>T	ENST00000303045.6	-	55	4357	c.3911T>A	c.(3910-3912)tTa>tAa	p.L1304*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.L1284*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1304	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTCCTGGTAACCCTTCCTG	0.562000										HNSCC(7;0.00092)			4	44					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713781	40713781	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:40713781C>T	ENST00000372766.3	+	1	209	c.116C>T	c.(115-117)aCa>aTa	p.T39I	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	39						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCAGCAAACAAGTTTGGGA	0.398000													39	100					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951280	235951280	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:235951280A>T	ENST00000409212.1	+	4	2374	c.1867A>T	c.(1867-1869)Agg>Tgg	p.R623W	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R623W|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R623W			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	623					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.R623W(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCGGGCAAAGGAGGTTTCT	0.567000													16	27					0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43386379	43386379	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:43386379C>A	ENST00000372851.3	-	4	449	c.383G>T	c.(382-384)gGt>gTt	p.G128V	RIMS4_ENST00000541604.2_Missense_Mutation_p.G129V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	128	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.G128V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CTCCAACTGACCGTTCCGCTC	0.587000													35	65					4.40281e-34	6.9927e-34	1	1	0
DPYS	1807	broad.mit.edu	37	8	105441830	105441830	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:105441830C>A	ENST00000351513.2	-	5	1025	c.893G>T	c.(892-894)gGt>gTt	p.G298V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	298					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGGTGGACCCATGACATG	0.498000													11	75					0.0809354	0.0821181	1	1	0
RBBP8	5932	broad.mit.edu	37	18	20573261	20573261	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:20573261C>G	ENST00000399722.2	+	11	1822	c.1471C>G	c.(1471-1473)Ctg>Gtg	p.L491V	RBBP8_ENST00000399725.2_Missense_Mutation_p.L491V|RBBP8_ENST00000327155.5_Missense_Mutation_p.L491V|RBBP8_ENST00000360790.5_Missense_Mutation_p.L491V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	491	CTBP-binding motif.				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.L491V(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GGATAAACCTCTGGATCTGTC	0.398000								Homologous recombination					14	13					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15627406	15627406	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:15627406G>C	ENST00000341285.3	-	9	1443	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	FBXL5_ENST00000382358.4_Missense_Mutation_p.S314C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S423C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	440					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	p.S440C(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTGCTTGGTGGACTGCATGGT	0.393000													51	48					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407144	28407144	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:28407144G>A	ENST00000394835.3	+	16	3274	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E904K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1028							calcium ion binding	p.E1028K(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTCTTAGAAGAAAACCTACT	0.428000													29	27					0	0	1	0	0
TMEM88	92162	broad.mit.edu	37	17	7758930	7758930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:7758930C>A	ENST00000301599.6	+	2	388	c.378C>A	c.(376-378)taC>taA	p.Y126*	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	126						integral to membrane		p.Y126*(1)		lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				TCGTGCCCTACAGCCGAGCCC	0.687000													15	19					0.000219431	0.000239649	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541071	133541071	+	Silent	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:133541071A>G	ENST00000409261.1	-	14	3686	c.3313T>C	c.(3313-3315)Tta>Cta	p.L1105L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1105L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1105	Ser-rich.						protein binding	p.L1105L(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTACCCCTAAGAAGGAAGGC	0.498000													27	150					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414507	138414507	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:138414507C>A	ENST00000409968.1	+	23	4425	c.4247C>A	c.(4246-4248)cCc>cAc	p.P1416H	THSD7B_ENST00000413152.2_Missense_Mutation_p.P1388H|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P1419H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACAGCTGCCCCCAACAGGTT	0.428000													18	43					9.04412e-07	1.05154e-06	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	30					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18837109	18837109	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:18837109C>T	ENST00000447925.2	-	14	1959	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	PLCZ1_ENST00000539875.1_Missense_Mutation_p.E373K|PLCZ1_ENST00000534932.1_Missense_Mutation_p.E47K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E348K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E566K|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E371K	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	566	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCAAGAAATTCATTTCCTGCT	0.333000													6	19					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801467	44801467	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:44801467G>T	ENST00000309315.4	+	11	1682	c.1559G>T	c.(1558-1560)cGc>cTc	p.R520L	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R494L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R462L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R488L|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R520L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	520					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.R520L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCAGGCCGCAACACCATC	0.677000													5	61					0.00116845	0.00122121	1	1	0
EDAR	10913	broad.mit.edu	37	2	109527371	109527371	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:109527371G>T	ENST00000409271.1	-	8	1130	c.687C>A	c.(685-687)ttC>ttA	p.F229L	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Missense_Mutation_p.F229L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GAGAGTCCAGGAAGCAGGGCA	0.632000													6	24					0.00116845	0.00122121	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42107518	42107518	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:42107518G>A	ENST00000457542.2	+	11	1518	c.1232G>A	c.(1231-1233)tGc>tAc	p.C411Y	MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.C294Y|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.C411Y|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.C417Y	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	417										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TTTATTACCTGCTCCTCAGAC	0.587000													8	33					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90437534	90437534	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:90437534G>T	ENST00000335725.4	+	6	925	c.675G>T	c.(673-675)ctG>ctT	p.L225L	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Silent_p.L225L|TDP1_ENST00000393454.2_Silent_p.L225L|TDP1_ENST00000393452.3_Silent_p.L225L|TDP1_ENST00000555565.1_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	225					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.L225L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGCCAATCCTGCTTGTGCATG	0.507000								Repair of DNA-protein crosslinks					14	37					3.45872e-05	3.89106e-05	1	1	0
PCF11	51585	broad.mit.edu	37	11	82879809	82879809	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:82879809G>C	ENST00000298281.4	+	8	2884	c.2432G>C	c.(2431-2433)gGt>gCt	p.G811A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	811	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGGCCACAAGGTCAGCTAGGA	0.567000													4	15					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105457869	105457869	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:105457869A>C	ENST00000547315.1	+	3	1250	c.611A>C	c.(610-612)cAc>cCc	p.H204P	C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000549240.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	204										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			CAGAGCATACACACCACGTCT	0.498000													13	42					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901321	150901321	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:150901321C>A	ENST00000261800.5	-	18	10845	c.10833G>T	c.(10831-10833)acG>acT	p.T3611T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3611	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGCAGTCGTGGTGAAGG	0.627000													17	19					5.26018e-13	7.20126e-13	1	1	0
ELOVL4	6785	broad.mit.edu	37	6	80634726	80634726	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:80634726C>A	ENST00000369816.4	-	3	612	c.312G>T	c.(310-312)gcG>gcT	p.A104A		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	104					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.A104A(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGCTATATCCCGCATTATATG	0.279000													11	23					1.5842e-08	1.94917e-08	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139890019	139890019	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:139890019C>A	ENST00000303045.6	-	3	1078	c.632G>T	c.(631-633)gGc>gTc	p.G211V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G211V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	211	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G211V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGCAGCTTGCCCCGGATCTT	0.667000										HNSCC(7;0.00092)			9	32					2.17888e-05	2.45692e-05	1	1	0
DLK1	8788	broad.mit.edu	37	14	101198386	101198386	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:101198386G>A	ENST00000341267.4	+	4	512	c.270G>A	c.(268-270)cgG>cgA	p.R90R	DLK1_ENST00000331224.6_Silent_p.R90R	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	90	EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAGATGTTCGGGCCTGCTCCT	0.607000													10	22					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	957013	957013	+	Silent	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:957013G>C	ENST00000273814.3	-	16	1873	c.1800C>G	c.(1798-1800)ctC>ctG	p.L600L	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	600	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.L600L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCGGCCCTTGAGGCCTCCAC	0.627000													12	9					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141776013	141776013	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:141776013C>A	ENST00000475668.2	+	46	5340	c.5286C>A	c.(5284-5286)gcC>gcA	p.A1762A	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACTGTGGCCAAGAAAGTAT	0.418000													12	52					1.36491e-13	1.88451e-13	1	1	0
PLAG1	5324	broad.mit.edu	37	8	57079013	57079013	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:57079013G>T	ENST00000316981.3	-	5	1771	c.1292C>A	c.(1291-1293)cCc>cAc	p.P431H	PLAG1_ENST00000423799.2_Missense_Mutation_p.P349H|PLAG1_ENST00000429357.2_Missense_Mutation_p.P431H	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	431	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P431L(2)|p.P431H(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AGGATTATAGGGAGGACCATT	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								9	71					2.17888e-05	2.45692e-05	1	1	0
EPS15L1	58513	broad.mit.edu	37	19	16548592	16548592	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:16548592G>A	ENST00000597937.1	-	5	302	c.298C>T	c.(298-300)Ccg>Tcg	p.P100S	EPS15L1_ENST00000535753.2_Missense_Mutation_p.P100S|EPS15L1_ENST00000455140.2_Missense_Mutation_p.P100S|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P100S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P100S	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	100	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.P100S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTTAGGCGGTGGCATGCTC	0.438000													8	33					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951632	130951632	+	Silent	SNP	C	C	T	rs150508021		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:130951632C>T	ENST00000312988.7	-	4	883	c.783G>A	c.(781-783)ccG>ccA	p.P261P		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	261					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGCGGGGGTACGGCACGAGGT	0.602000													11	207					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391419	71391419	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:71391419A>G	ENST00000392650.3	-	25	3467	c.3467T>C	c.(3466-3468)gTg>gCg	p.V1156A	SDK2_ENST00000388726.3_Missense_Mutation_p.V1156A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1156	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1156A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCCCGCTCCACACGGTCCTG	0.617000													23	14					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906333	120906333	+	RNA	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:120906333G>T	ENST00000430394.1	+	0	306					NR_027337.1																						AGATCCAGACGGCCGTGCGCC	0.637000													24	38					9.57634e-11	1.23779e-10	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454735	84454735	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:84454735G>T	ENST00000377084.2	-	1	1793	c.908C>A	c.(907-909)tCt>tAt	p.S303Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	303						integral to membrane		p.S303Y(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTTGGAGCAGACCCTGGTGT	0.562000													6	22					0.307466	0.309376	1	1	0
MRPL39	54148	broad.mit.edu	37	21	26973741	26973741	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr21:26973741C>T	ENST00000307301.7	-	4	500	c.459G>A	c.(457-459)gtG>gtA	p.V153V	MRPL39_ENST00000352957.4_Silent_p.V153V	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	153						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CCCTCTCTATCACACAGCCCA	0.333000													9	101					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837486	99837486	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:99837486C>G	ENST00000547776.2	-	11	1539	c.1540G>C	c.(1540-1542)Gcc>Ccc	p.A514P	ANKS1B_ENST00000329257.7_Missense_Mutation_p.A514P|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A94P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	514						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.A514P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTTGAGGGCAGTATCAGGG	0.428000													16	12					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902620	40902620	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:40902620G>C	ENST00000324001.7	-	7	1909	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	547	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E545_P549delEVQLP(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCAGCTGTACCTCTGGA	0.587000													6	178					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188193	7188193	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:7188193C>A	ENST00000542285.1	-	11	1754	c.1605G>T	c.(1603-1605)ctG>ctT	p.L535L				P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.L550L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCATCAAGCCCAGGTCGTAGA	0.572000													12	9					0.00244969	0.00254391	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020314	56020314	+	Silent	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:56020314T>A	ENST00000303059.3	+	1	639	c.639T>A	c.(637-639)ccT>ccA	p.P213P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P213P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATGCCTCCTCTCCTTGCTA	0.398000													35	113					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85459121	85459121	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:85459121C>T	ENST00000393217.2	+	9	2534	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	825								p.L825F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTTTCTATCCCTTCGACGCTG	0.398000													31	28					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27398124	27398124	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:27398124G>A	ENST00000521400.1	+	15	1760	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	EPHX2_ENST00000521780.1_Missense_Mutation_p.E378K|EPHX2_ENST00000518379.1_Missense_Mutation_p.E412K|EPHX2_ENST00000380476.3_Missense_Mutation_p.E391K|EPHX2_ENST00000517536.1_Missense_Mutation_p.E261K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	444	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.E444K(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GATGGTCACTGAGGAGGAAAT	0.502000													11	36					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213787	200213787	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:200213787C>A	ENST00000443023.1	-	6	2098	c.633G>T	c.(631-633)caG>caT	p.Q211H	SATB2_ENST00000417098.1_Missense_Mutation_p.Q270H|SATB2_ENST00000260926.5_Missense_Mutation_p.Q270H|SATB2_ENST00000428695.1_Missense_Mutation_p.Q152H|SATB2_ENST00000457245.1_Missense_Mutation_p.Q270H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	270						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q270H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTGAGGAGACTGTTCGTTGG	0.498000													16	34					1.45105e-14	2.03818e-14	1	1	0
HAO1	54363	broad.mit.edu	37	20	7864303	7864303	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:7864303C>A	ENST00000378789.3	-	8	1101	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	350	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTTTCACATTCTGGCACCCTG	0.343000													24	65					1.17739e-12	1.58948e-12	1	1	0
TRAV26-1	28657	broad.mit.edu	37	14	22591459	22591459	+	RNA	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:22591459C>A	ENST00000390455.3	+	0	184																											AACTCTGGGTCCACAATCCTC	0.448000													7	10					8.12818e-05	8.93732e-05	1	1	0
PPFIA4	8497	broad.mit.edu	37	1	203024683	203024683	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:203024683C>A	ENST00000367240.2	+	15	2417	c.1890C>A	c.(1888-1890)acC>acA	p.T630T	PPFIA4_ENST00000414050.2_Silent_p.T358T|PPFIA4_ENST00000295706.4_Silent_p.T145T|PPFIA4_ENST00000447715.2_Silent_p.T629T|PPFIA4_ENST00000272198.6_Silent_p.T145T|PPFIA4_ENST00000599966.1_Silent_p.T145T			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	145					cell communication	cell surface|cytoplasm	protein binding	p.T776T(1)|p.T145T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCATCCCCACCTCTCTGACGG	0.657000													13	14					7.93312e-07	9.2458e-07	1	1	0
COG6	57511	broad.mit.edu	37	13	40268863	40268863	+	Splice_Site	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:40268863G>T	ENST00000416691.1	+	12	1266		c.e12+1		COG6_ENST00000455146.3_Splice_Site	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6						protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATACAATCAGGTAAGTAGAAT	0.289000													4	16					0.00909568	0.00936547	1	1	0
CXorf48	54967	broad.mit.edu	37	X	134292127	134292127	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:134292127T>A	ENST00000344129.2	-	4	760	c.534A>T	c.(532-534)gaA>gaT	p.E178D	CXorf48_ENST00000276241.6_Missense_Mutation_p.E178D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	178								p.E178D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AAATTACCTCTTCCGTATGAA	0.423000													3	11					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131927661	131927661	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:131927661T>G	ENST00000403834.3	-	13	1516	c.1343A>C	c.(1342-1344)aAg>aCg	p.K448T	MED23_ENST00000368060.3_Missense_Mutation_p.K442T|MED23_ENST00000368068.3_Missense_Mutation_p.K442T|MED23_ENST00000545957.1_Missense_Mutation_p.K83T|MED23_ENST00000354577.4_Missense_Mutation_p.K448T|MED23_ENST00000368058.1_Missense_Mutation_p.K448T|MED23_ENST00000540546.1_Missense_Mutation_p.K448T|MED23_ENST00000539158.1_Missense_Mutation_p.K442T|MED23_ENST00000368053.4_Missense_Mutation_p.K448T			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	442					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.K442T(1)|p.K448T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATCTGTAGCTTGGAGTTGTC	0.363000													14	23					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983860	89983860	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:89983860A>T	ENST00000222511.6	+	3	382	c.316A>T	c.(316-318)Ata>Tta	p.I106L	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	106					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	p.I106L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TGGTAAAATTATAGGTGAGTG	0.338000													6	20					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150817225	150817225	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:150817225T>G	ENST00000397238.2	+	8	1121	c.1121T>G	c.(1120-1122)aTc>aGc	p.I374S	AGAP3_ENST00000335367.3_Missense_Mutation_p.I554S|AGAP3_ENST00000463381.1_Missense_Mutation_p.I146S|AGAP3_ENST00000473312.1_Missense_Mutation_p.I374S|AGAP3_ENST00000479901.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	338	PH.|Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTCCAACATCTTCACGGTA	0.687000													6	58					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725101	158725101	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:158725101C>A	ENST00000368144.2	+	1	592	c.496C>A	c.(496-498)Ccc>Acc	p.P166T		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CATCATGATTCCCAAACTTTG	0.483000													7	88					7.48243e-07	8.78372e-07	1	1	0
MROH7	374977	broad.mit.edu	37	1	55138821	55138821	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:55138821G>A	ENST00000414150.2	+	8	1935	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	MROH7_ENST00000409996.1_Missense_Mutation_p.E121K|MROH7_ENST00000454855.2_Missense_Mutation_p.E71K|MROH7_ENST00000395690.2_Missense_Mutation_p.E553K|MROH7_ENST00000339553.5_Missense_Mutation_p.E553K|MROH7_ENST00000421030.2_Missense_Mutation_p.E553K|MROH7_ENST00000545244.1_Missense_Mutation_p.E121K					maestro heat-like repeat family member 7																		CCTCTTTATCGAGGACCCCAC	0.592000													10	27					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49399713	49399713	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:49399713C>T	ENST00000221399.3	-	4	329	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	62					visual perception	cytoplasm|extracellular region		p.R62Q(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCGCTCCTCCCGCAGACAAGA	0.637000													15	27					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343764	36343764	+	Missense_Mutation	SNP	C	C	G	rs150949834	byFrequency	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:36343764C>G	ENST00000339796.5	-	3	1036	c.191G>C	c.(190-192)cGc>cCc	p.R64P	ETV7_ENST00000340181.4_Missense_Mutation_p.R64P|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.R64P	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	64	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTCTGCCCAGCGCAGCCAGTG	0.647000													4	29					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564456	176564456	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:176564456C>A	ENST00000367662.3	+	3	2880	c.1716C>A	c.(1714-1716)gtC>gtA	p.V572V	PAPPA2_ENST00000367661.3_Silent_p.V572V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	572	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V572V(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCACCAGGTCCACAATTCCA	0.572000													70	51					6.01781e-45	9.68428e-45	1	1	0
EML5	161436	broad.mit.edu	37	14	89154817	89154817	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:89154817C>A	ENST00000554922.1	-	18	2788	c.2539_splice	c.e18-1	p.G847_splice	EML5_ENST00000352093.5_Intron|EML5_ENST00000380664.5_Splice_Site_p.G847_splice	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	847						cytoplasm|microtubule		p.G847V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAATCCTCCCCCTAGTTCACA	0.358000													32	78					2.42023e-17	3.53223e-17	1	1	0
OR52N5	390075	broad.mit.edu	37	11	5799626	5799626	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:5799626A>T	ENST00000317093.2	-	1	271	c.239T>A	c.(238-240)cTc>cAc	p.L80H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L80H(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCAGGTAAGGAGGTCAATGAG	0.433000													13	54					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1605902G>T	ENST00000382171.2	-	1	611	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S193Y(2)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCCTTGGATCCCCCACA	0.672000													9	66					0.000442599	0.000474842	1	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067094	18067094	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:18067094C>A	ENST00000506618.2	-	1	392	c.312G>T	c.(310-312)cgG>cgT	p.R104R		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	104					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGATTGGGGACCGGCTCTTAT	0.468000													10	116					7.48243e-07	8.78372e-07	1	1	0
NFKBID	84807	broad.mit.edu	37	19	36387822	36387822	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:36387822C>G	ENST00000396901.1	-	5	718	c.145G>C	c.(145-147)Ggg>Cgg	p.G49R	NFKBID_ENST00000606253.1_Missense_Mutation_p.G49R|NFKBID_ENST00000352614.2_Missense_Mutation_p.G201R	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	49					inflammatory response	nucleus		p.G49R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CACGTGTCCCCCTCCTCATCC	0.632000													63	34					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55970202	55970202	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:55970202T>C	ENST00000389286.4	-	8	1221	c.1174A>G	c.(1174-1176)Att>Gtt	p.I392V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	392	Ig-like 4.				multicellular organismal development	integral to membrane		p.I392V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACTGATAAATAGCATCATCT	0.338000													7	7					0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	18028280	18028280	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:18028280G>A	ENST00000265965.5	-	3	361	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SERGEF_ENST00000528200.1_Silent_p.L70L|SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	70					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	p.L70L(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CACAAACAAAGAGGTCTCCTC	0.433000													21	99					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103316347	103316347	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:103316347C>T	ENST00000520539.1	-	22	3484	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	UBR5_ENST00000220959.4_Missense_Mutation_p.E960K|UBR5_ENST00000521922.1_Missense_Mutation_p.E954K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	960					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E960K(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCAATGGCCTCAACAGCAGAA	0.373000													20	29					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369522	56369522	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:56369522C>A	ENST00000301295.6	+	3	1185	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	NLRP4_ENST00000587891.1_Silent_p.R180R|NLRP4_ENST00000346986.5_Silent_p.R255R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	255	NACHT.						ATP binding	p.R255R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGGAGAAACGGCCGGTGCA	0.577000													36	34					7.43668e-06	8.54427e-06	1	1	0
SLC15A1	6564	broad.mit.edu	37	13	99337143	99337143	+	Silent	SNP	C	C	T	rs143994270	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:99337143C>T	ENST00000376503.5	-	23	2017	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	654					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCAGAAGCAACGCGGCAAATA	0.418000													5	9					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610126	10610126	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:10610126C>A	ENST00000171111.5	-	2	1131	c.584G>T	c.(583-585)gGc>gTc	p.G195V	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.G195V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	195	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTCCACACAGCCAATCTGCTC	0.602000													10	8					0.000673444	0.000713058	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125033871	125033871	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:125033871C>G	ENST00000522917.1	+	17	2301	c.2095C>G	c.(2095-2097)Caa>Gaa	p.Q699E	FER1L6_ENST00000399018.1_Missense_Mutation_p.Q699E|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	699						integral to membrane		p.Q699E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCACGAAGCCCAAAACTTTGT	0.418000													25	51					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030169	10030169	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:10030169G>T	ENST00000378380.3	+	6	1281	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.A318S|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.A318S(1)									CAGGCCAGGAGCCAAAAATCC	0.527000													14	34					9.05144e-12	1.19864e-11	1	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651151	1651151	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1651151C>T	ENST00000399676.2	+	1	119	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	27						keratin filament		p.G27G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gtggctccggctgtggaggct	0.711000													12	77					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828639	59828639	+	Silent	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:59828639C>T	ENST00000278865.3	+	2	79	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Silent_p.A2A|MS4A3_ENST00000358152.2_Silent_p.A2A|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	2						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.A2A(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCCCAATGGCCTCCCACGAAG	0.488000													11	31					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540518	55540518	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:55540518C>G	ENST00000220676.1	+	4	4224	c.4076C>G	c.(4075-4077)aCt>aGt	p.T1359S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1359					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGGATTCAACTGAAGAGTTA	0.338000													5	49					0	0	1	0	0
C3orf79	152118	broad.mit.edu	37	3	153203805	153203805	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:153203805C>A	ENST00000446603.2	+	2	196	c.132_splice	c.e2-1	p.T45_splice	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	45										endometrium(1)|large_intestine(3)	4						CTTTGACAGACTTCCGGTTGT	0.348000													6	4					8.12818e-05	8.93732e-05	1	1	0
OTOF	9381	broad.mit.edu	37	2	26712142	26712142	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:26712142G>T	ENST00000272371.2	-	11	1108	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	OTOF_ENST00000403946.3_Missense_Mutation_p.L328M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	328	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTGCGCAGCAGGTTCTTG	0.617000													8	11					0.010729	0.0110239	1	1	0
FBXL5	26234	broad.mit.edu	37	4	15627285	15627285	+	Missense_Mutation	SNP	C	C	A	rs149921734		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:15627285C>A	ENST00000341285.3	-	9	1564	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	FBXL5_ENST00000382358.4_Missense_Mutation_p.W354C|FBXL5_ENST00000412094.2_Missense_Mutation_p.W463C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	480					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	p.W480C(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATCTAACATCCACACATAAG	0.378000													34	21					1.60099e-16	2.30884e-16	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953365	140953365	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:140953365C>A	ENST00000298296.1	+	2	232	c.232C>A	c.(232-234)Ctt>Att	p.L78I		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	78								p.L78I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGATAGTCTTGTCCTCTG	0.507000													13	30					1.61879e-10	2.07035e-10	1	1	0
SESTD1	91404	broad.mit.edu	37	2	180014089	180014089	+	Silent	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:180014089T>C	ENST00000428443.3	-	7	832	c.516A>G	c.(514-516)tcA>tcG	p.S172S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	172					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.S172S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATCTAATAATGATGTAGATT	0.308000													13	14					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575152	12575152	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:12575152C>A	ENST00000397732.3	-	4	1755	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G	ZNF709_ENST00000428311.1_Silent_p.G528G|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G528G(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGGGTTTCTCCCCAGTGTGAG	0.423000													24	40					1.1804e-14	1.67252e-14	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8890429	8890429	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:8890429C>T	ENST00000256707.3	-	24	3408	c.3227G>A	c.(3226-3228)gGa>gAa	p.G1076E	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1076E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1076E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G1034E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1076					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1076E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTACGCCAGTCCTCCAATACT	0.542000													5	22					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797177	109797177	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:109797177T>C	ENST00000297459.3	-	2	329	c.151A>G	c.(151-153)Aga>Gga	p.R51G	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	51					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.R51G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCGGTTGCTCTTGGGGTGGAT	0.547000													19	78					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74759024	74759024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:74759024C>A	ENST00000356924.4	-	11	1227	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Nonsense_Mutation_p.E258*|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	362						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E362*(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CCCAGGATCTCGCAGTCCTGT	0.582000													37	51					4.06502e-11	5.33946e-11	1	1	0
URB2	9816	broad.mit.edu	37	1	229773858	229773858	+	Silent	SNP	A	A	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:229773858A>C	ENST00000258243.2	+	4	3634	c.3498A>C	c.(3496-3498)ccA>ccC	p.P1166P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1166						nucleolus		p.P1166P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGAGTTGCCAGCTCTCGCGG	0.527000													23	21					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453979	138453979	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:138453979G>A	ENST00000310018.2	-	4	417	c.135C>T	c.(133-135)aaC>aaT	p.N45N	ATP6V0A4_ENST00000393054.1_Silent_p.N45N|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.N45N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	45					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTGAAAGCTGTTCACATTCA	0.318000													6	44					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65161533	65161533	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:65161533G>A	ENST00000317568.5	+	5	540	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	FRMD8_ENST00000355991.5_Missense_Mutation_p.R70Q|FRMD8_ENST00000416776.2_Missense_Mutation_p.R92Q	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	126	FERM.					cytoskeleton	binding	p.R126Q(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGCAGTTCCGAAGGAACGTG	0.672000													7	15					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59536340	59536340	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:59536340C>A	ENST00000038176.3	-	7	597		c.e7-1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATTTTGCCCTAACAAAAAG	0.388000													4	41					0.00909568	0.00936547	1	1	0
SSPO	23145	broad.mit.edu	37	7	149525007	149525007	+	RNA	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:149525007G>T	ENST00000378016.2	+	0	14918							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)			GGGCACTTCCGCAGCCAGGCA	0.657000													14	25					7.07596e-05	7.88742e-05	1	1	0
RBM15B	29890	broad.mit.edu	37	3	51429993	51429993	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:51429993A>T	ENST00000323686.4	+	1	1263	c.1163A>T	c.(1162-1164)gAc>gTc	p.D388V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	388	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.D388V(1)		endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGAACCTGGACATGGCCCAT	0.587000													11	5					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578393	7578393	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:7578393A>T	ENST00000420246.2	-	5	669	c.537T>A	c.(535-537)caT>caA	p.H179Q	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179Q|TP53_ENST00000413465.2_Missense_Mutation_p.H179Q|TP53_ENST00000455263.2_Missense_Mutation_p.H179Q|TP53_ENST00000269305.4_Missense_Mutation_p.H179Q|TP53_ENST00000445888.2_Missense_Mutation_p.H179Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Q(23)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86Q(2)|p.H47Q(2)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCAGCGCTCATGGTGGGGGC	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	31					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89997947	89997947	+	Silent	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:89997947G>A	ENST00000428670.3	-	16	3075	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	ATP2B1_ENST00000393164.2_Silent_p.G616G|ATP2B1_ENST00000261173.2_Silent_p.G873G|ATP2B1_ENST00000348959.3_Silent_p.G873G|ATP2B1_ENST00000359142.3_Silent_p.G873G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	873					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATGCAGGCGCCCGTAAAAG	0.328000													8	29					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	887569	887569	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:887569C>A	ENST00000323510.4	-	3	275	c.276G>T	c.(274-276)atG>atT	p.M92I	BRD9_ENST00000435709.2_Missense_Mutation_p.M92I|BRD9_ENST00000388890.4_Missense_Mutation_p.M92I|BRD9_ENST00000483173.1_Missense_Mutation_p.M155I|BRD9_ENST00000467963.1_Missense_Mutation_p.M208I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	208	Lys-rich.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CATTATCACACATCAGCTTGA	0.408000													8	355					0.000274275	0.000296217	1	1	0
H2BFWT	158983	broad.mit.edu	37	X	103268001	103268001	+	Missense_Mutation	SNP	C	C	A	rs150940915	byFrequency	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:103268001C>A	ENST00000217926.5	-	1	258	c.232G>T	c.(232-234)Ggg>Tgg	p.G78W		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	78					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.G78R(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AAGCTGTCCCCGCGGCAGTTG	0.632000													6	13					6.5536e-12	8.72616e-12	1	1	0
TACR1	6869	broad.mit.edu	37	2	75278382	75278382	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:75278382C>T	ENST00000305249.4	-	4	1693	c.928G>A	c.(928-930)Gac>Aac	p.D310N	TACR1_ENST00000409848.3_Missense_Mutation_p.D310N	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	310					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	p.D310N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CCTCACCTGTCATTGAGGCAG	0.532000													31	108					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105263934	105263934	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:105263934G>T	ENST00000507740.1	+	22	3614	c.3378G>T	c.(3376-3378)tgG>tgT	p.W1126C	RIMS2_ENST00000262231.10_Missense_Mutation_p.W1151C|RIMS2_ENST00000436393.2_Missense_Mutation_p.W1330C|RIMS2_ENST00000339750.2_Missense_Mutation_p.W248C|RIMS2_ENST00000406091.3_Missense_Mutation_p.W1312C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1374					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.W1126C(2)|p.W1330C(1)|p.W1312C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATCGGATGGTTCAAACTTT	0.463000										HNSCC(12;0.0054)			28	122					2.48779e-11	3.27661e-11	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70239082	70239082	+	Silent	SNP	G	G	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:70239082G>T	ENST00000342771.4	+	12	2220	c.1899G>T	c.(1897-1899)ccG>ccT	p.P633P	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	633										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAAAGGACCCGAGGGTACGTG	0.532000													14	30					6.81908e-15	9.71869e-15	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24583167	24583167	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:24583167C>T	ENST00000319715.4	+	18	5212	c.4780C>T	c.(4780-4782)Cca>Tca	p.P1594S	RBBP6_ENST00000381039.3_Missense_Mutation_p.P754S|RBBP6_ENST00000348022.2_Missense_Mutation_p.P1560S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1594					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1594S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACTTAACCCACCAGAGACACA	0.378000													6	31					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112776	248112776	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248112776T>C	ENST00000357191.3	+	1	617	c.617T>C	c.(616-618)cTc>cCc	p.L206P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCATCTTTCTCGTGTTTCCC	0.468000													6	192					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427407	6427407	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:6427407C>A	ENST00000321510.6	-	5	798	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	244					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GGCAGGTAGCCGCGGTAAAGG	0.652000													4	14					0.00909568	0.00936547	1	1	0
RREB1	6239	broad.mit.edu	37	6	7230298	7230298	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:7230298G>C	ENST00000379938.2	+	10	2503	c.1966G>C	c.(1966-1968)Ggg>Cgg	p.G656R	RREB1_ENST00000349384.6_Missense_Mutation_p.G656R|RREB1_ENST00000379933.3_Missense_Mutation_p.G656R|RREB1_ENST00000334984.6_Missense_Mutation_p.G656R	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	656					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.G656R(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGCCTTCTCGGGGGTCTTGCG	0.647000													9	35					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641921	156641921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:156641921C>A	ENST00000368223.3	-	4	2191	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	687	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGTGCCTCCTCATCCCCT	0.448000													5	8					0.014758	0.0150364	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73676241	73676241	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:73676241C>G	ENST00000264448.6	+	8	2695	c.2584C>G	c.(2584-2586)Ctt>Gtt	p.L862V	ALMS1_ENST00000409009.1_Missense_Mutation_p.L820V|ALMS1_ENST00000377715.1_Missense_Mutation_p.L862V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	862	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.L862V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTCCTCTTCACTTGGAGAAAA	0.483000													16	18					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453004	58453004	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:58453004C>A	ENST00000282308.3	-	3	1368	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	391					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S391I(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GAGGTGACAGCTCTGGCTAAA	0.408000													11	15					0.000978159	0.0010312	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141336110	141336110	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:141336110C>T	ENST00000231484.3	-	1	2517	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	436	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding	p.G436E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGGAGTCCTTGGTCTTG	0.468000													32	52					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17949553	17949553	+	Missense_Mutation	SNP	C	C	T	rs140695246	byFrequency	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:17949553C>T	ENST00000331429.2	+	28	4020	c.3917C>T	c.(3916-3918)aCg>aTg	p.T1306M															p.T1306M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCAGGGACGTGGCTGTGG	0.378000													8	9					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100402407	100402407	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:100402407T>A	ENST00000262233.6	+	18	2090	c.1951T>A	c.(1951-1953)Tat>Aat	p.Y651N	EML1_ENST00000327921.9_Missense_Mutation_p.Y639N|EML1_ENST00000334192.4_Missense_Mutation_p.Y670N	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	651						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.Y670N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAACTGCATCTATATATATGG	0.428000													18	42					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128839	89128839	+	Missense_Mutation	SNP	C	C	T	rs146269135		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:89128839C>T	ENST00000286614.6	-	6	1261	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	327					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R327Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGTTGGAGGCCGAGGAGGTTT	0.527000													28	146					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068699	22068699	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:22068699T>C	ENST00000261200.4	-	5	718	c.719A>G	c.(718-720)aAa>aGa	p.K240R	ABCC9_ENST00000345162.2_Missense_Mutation_p.K240R|ABCC9_ENST00000261201.4_Missense_Mutation_p.K240R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	240					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.K240R(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATAGGCTTTTTGTGAGCAGA	0.383000													20	26					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320844	52320844	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:52320844G>A	ENST00000356297.4	-	17	3440	c.3340C>T	c.(3340-3342)Ccc>Tcc	p.P1114S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P1114S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1114					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P1114S(1)|p.P313S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGTAGGAGGGTGCCCGCCAT	0.567000													17	89					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294223	128294223	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:128294223C>G	ENST00000368227.3	-	30	4630	c.4264G>C	c.(4264-4266)Gtt>Ctt	p.V1422L	PTPRK_ENST00000368215.3_Missense_Mutation_p.V1404L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V1427L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V1411L|PTPRK_ENST00000368207.3_Missense_Mutation_p.V1437L|PTPRK_ENST00000368226.4_Missense_Mutation_p.V1405L|PTPRK_ENST00000368210.3_Missense_Mutation_p.V1423L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1404	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1405L(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCATGGAAAACATCGACAACA	0.453000													52	53					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27445164	27445164	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:27445164T>A	ENST00000527372.1	-	10	2117	c.1937A>T	c.(1936-1938)cAg>cTg	p.Q646L	MYO18A_ENST00000354329.4_Missense_Mutation_p.Q646L|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q646L|MYO18A_ENST00000531253.1_Missense_Mutation_p.Q646L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	646	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATGGCCGCCTGCAGCTTACT	0.592000													3	6					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854675	50854675	+	Silent	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:50854675C>A	ENST00000395562.2	+	9	1459	c.990C>A	c.(988-990)ggC>ggA	p.G330G	CHAT_ENST00000339797.1_Silent_p.G294G|CHAT_ENST00000351556.3_Silent_p.G294G|CHAT_ENST00000395559.2_Silent_p.G294G|CHAT_ENST00000337653.2_Silent_p.G412G|CHAT_ENST00000455728.2_Silent_p.G294G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	412					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACGGCGGAGGCTACAGCAAGA	0.632000													12	21					9.05144e-12	1.19864e-11	1	1	0
HAVCR2	84868	broad.mit.edu	37	5	156522332	156522332	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:156522332C>A	ENST00000307851.4	-	5	1391	c.661G>T	c.(661-663)Gct>Tct	p.A221S	HAVCR2_ENST00000522593.1_Missense_Mutation_p.A193S	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	221						integral to membrane		p.A221S(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAATTAAAGCGCCGAAGATA	0.428000													17	27					1.45105e-14	2.03818e-14	1	1	0
HTR7	3363	broad.mit.edu	37	10	92508872	92508872	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:92508872C>A	ENST00000371721.3	-	2	1261	c.1019G>T	c.(1018-1020)tGg>tTg	p.W340L	HTR7_ENST00000336152.3_Missense_Mutation_p.W340L|HTR7_ENST00000371719.2_Missense_Mutation_p.W340L|HTR7_ENST00000277874.6_Missense_Mutation_p.W340L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	340					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.W340L(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AAATGGCAGCCAGCACACGGT	0.542000													12	7					7.03913e-09	8.77183e-09	1	1	0
MRPL50	54534	broad.mit.edu	37	9	104152941	104152941	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:104152941C>A	ENST00000374865.4	-	2	305	c.284G>T	c.(283-285)cGt>cTt	p.R95L	MRPL50_ENST00000539624.1_Missense_Mutation_p.R95L	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	95						mitochondrion|ribosome		p.R95L(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GAACTTTAGACGACTATCTTC	0.433000													25	14					1.42536e-11	1.8824e-11	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23815782	23815782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:23815782T>A	ENST00000264867.2	-	8	1443	c.1324A>T	c.(1324-1326)Aag>Tag	p.K442*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	442					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.K442*(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGACCTGCTTGCTTGCCTCC	0.483000													9	11					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													12	263	---	---	---	---					
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)del	p.K396del	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													10	230	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													7	194	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													7	163	---	---	---	---					
PTPRC	5788	broad.mit.edu	37	1	198687238	198687238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:198687238delG	ENST00000367376.2	+	14	1631	c.1460delG	c.(1459-1461)tgfs	p.W487fs	PTPRC_ENST00000594404.1_Frame_Shift_Del_p.W326fs|PTPRC_ENST00000352140.3_Frame_Shift_Del_p.W439fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.W489fs|PTPRC_ENST00000348564.6_Frame_Shift_Del_p.W328fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	487	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCCAGGTCTGGAACATGACT	0.373													28	26	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240371883	240371883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:240371883delA	ENST00000319653.9	+	5	4001	c.3771delA	c.(3769-3771)ccfs	p.P1257fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1257	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCAACCCCACAGGTGTGTG	0.552													15	24	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													7	325	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85623548	85623548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:85623548delA	ENST00000322366.6	-	55	8910	c.8503delT	c.(8503-8505)atfs	p.Y2835fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.Y2852fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2852	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTGGTAAATAAAAGAACTCT	0.428													21	17	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													2	4	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													7	148	---	---	---	---					
FLT4	2324	broad.mit.edu	37	5	180056752	180056752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:180056752delC	ENST00000261937.6	-	6	838	c.760delG	c.(760-762)tgfs	p.V254fs	FLT4_ENST00000502649.1_Frame_Shift_Del_p.V254fs|FLT4_ENST00000393347.3_Frame_Shift_Del_p.V254fs|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	254	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAGCCCACACGGTGCAGTTC	0.592													9	11	---	---	---	---					
FOXC1	2296	broad.mit.edu	37	6	1611463	1611465	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:1611463_1611465delCAG	ENST00000380874.2	+	1	783_785	c.783_785delCAG	c.(781-786)gac>ga	p.DS261del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	261					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGAGCCCCGACAGCAGCAGCAGC	0.793													2	4	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													38	107	---	---	---	---					
SNTG1	54212	broad.mit.edu	37	8	51571223	51571223	+	Splice_Site	DEL	G	G	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:51571223delG	ENST00000522124.1	+	15	1699	c.1038_splice	c.e15+1	p.K346_splice	SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice|SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAA	0.373													17	79	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125113407	125113407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:125113407delC	ENST00000522917.1	+	38	5159	c.4953delC	c.(4951-4953)ggfs	p.G1651fs	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1651fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1651	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGGAGAGGGCAACTTCAACT	0.433													11	64	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339950	55339950	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:55339950delC	ENST00000314634.3	+	1	347	c.347delC	c.(346-348)agfs	p.T116fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T116M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCATCCTCACGGCTGTTGAC	0.512													26	107	---	---	---	---					
CCDC67	159989	broad.mit.edu	37	11	93141580	93141580	+	Frame_Shift_Del	DEL	C	C	-	rs2259633	by1000genomes	TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:93141580delC	ENST00000298050.3	+	12	1610	c.1510delC	c.(1510-1512)aafs	p.Q504fs	CCDC67_ENST00000525646.1_Frame_Shift_Del_p.Q246fs	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	504			Q -> K (in dbSNP:rs2259633).							endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAAAGTGGAACAAAATGAAGA	0.294													2	4	---	---	---	---					
ABCD2	225	broad.mit.edu	37	12	40012626	40012628	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:40012626_40012628delCAC	ENST00000308666.3	-	1	925_927	c.790_792delGTG	c.(790-792)del	p.V264del		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	264	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTGGCATACACCACAAGTCCT	0.463													7	53	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													7	117	---	---	---	---					
CLEC14A	161198	broad.mit.edu	37	14	38723908	38723908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:38723908delC	ENST00000342213.2	-	1	1666	c.1320delG	c.(1318-1320)ccfs	p.P441fs		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	441						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGGCCCGGCGGGCCCATAG	0.562													9	18	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													6	8	---	---	---	---					
HS3ST4	9951	broad.mit.edu	37	16	26147121	26147121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:26147121delT	ENST00000331351.5	+	2	1315	c.923delT	c.(922-924)acfs	p.I308fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAACCCGAGATCCCCACCTTT	0.542													12	108	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788212	7788214	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:7788212_7788214delGAG	ENST00000380358.4	+	1	89_91	c.88_90delGAG	c.(88-90)del	p.E35del	LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	450					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agagggcgacgaggaggaggagg	0.685													2	4	---	---	---	---					
SEC1P	653677	broad.mit.edu	37	19	49184219	49184219	+	RNA	DEL	T	T	-			TCGA-50-5066-02A-11D-2107-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ca69fb-9884-4179-9d11-092fdc9e7668	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:49184219delT	ENST00000430145.2	+	0	1306					NR_004401.2																						CCTTTCAACGTGGTCTTTAGG	0.642													2	4	---	---	---	---